ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1) - coding DNA reference sequence

(used for variant description)

(last modified November 11, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_005502.3 in the ABCA1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007981.1, covering ABCA1 transcript NM_005502.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5044
                 ggaggagggagagcacaggctttgaccgatagtaacctctgcgc       c.-361

 .         .         .         .         .         .                g.5104
 tcggtgcagccgaatctataaaaggaactagtcccggcaaaaaccccgtaattgcgagcg       c.-301

 .         .         .         .         .         .                g.5164
 agagtgagtggggccgggacccgcagagccgagccgacccttctctcccgggctgcggca       c.-241

 .         .         .         .         .         .                g.5224
 gggcagggcggggagctccgcgcaccaacagagccggttctcagggcgctttgctccttg       c.-181

 .         .         .         .         .         .                g.5284
 ttttttccccggttctgttttctccccttctccggaaggcttgtcaaggggtaggagaaa       c.-121

 .         .         .        | 02.         .         .             g.29507
 gagacgcaaacacaaaagtggaaaacag | ttaatgaccagccacggcgtccctgctgtgag    c.-61

 .         .         .         .         .         .                g.29567
 ctctggccgctgccttccagggctcccgagccacacgctgggggtgctggctgagggaac       c.-1

          .         .         .         .         .         .       g.29627
 ATGGCTTGTTGGCCTCAGCTGAGGTTGCTGCTGTGGAAGAACCTCACTTTCAGAAGAAGA       c.60
 M  A  C  W  P  Q  L  R  L  L  L  W  K  N  L  T  F  R  R  R         p.20

        | 03 .         .         .         .         .         .    g.44105
 CAAACA | TGTCAGCTGCTGCTGGAAGTGGCCTGGCCTCTATTTATCTTCCTGATCCTGATC    c.120
 Q  T   | C  Q  L  L  L  E  V  A  W  P  L  F  I  F  L  I  L  I      p.40

          .         .         .         . | 04       .         .    g.48698
 TCTGTTCGGCTGAGCTACCCACCCTATGAACAACATGAAT | GCCATTTTCCAAATAAAGCC    c.180
 S  V  R  L  S  Y  P  P  Y  E  Q  H  E  C |   H  F  P  N  K  A      p.60

          .         .         .         .         .         .       g.48758
 ATGCCCTCTGCAGGAACACTTCCTTGGGTTCAGGGGATTATCTGTAATGCCAACAACCCC       c.240
 M  P  S  A  G  T  L  P  W  V  Q  G  I  I  C  N  A  N  N  P         p.80

          .         .         .         .         .         .       g.48818
 TGTTTCCGTTACCCGACTCCTGGGGAGGCTCCCGGAGTTGTTGGAAACTTTAACAAATCC       c.300
 C  F  R  Y  P  T  P  G  E  A  P  G  V  V  G  N  F  N  K  S         p.100

    | 05     .         .         .         .         .         .    g.50147
 AT | TGTGGCTCGCCTGTTCTCAGATGCTCGGAGGCTTCTTTTATACAGCCAGAAAGACACC    c.360
 I  |  V  A  R  L  F  S  D  A  R  R  L  L  L  Y  S  Q  K  D  T      p.120

          .         .         .         .         .         .       g.50207
 AGCATGAAGGACATGCGCAAAGTTCTGAGAACATTACAGCAGATCAAGAAATCCAGCTCA       c.420
 S  M  K  D  M  R  K  V  L  R  T  L  Q  Q  I  K  K  S  S  S         p.140

   | 06      .         .         .         .         .         .    g.71505
 A | ACTTGAAGCTTCAAGATTTCCTGGTGGACAATGAAACCTTCTCTGGGTTCCTGTATCAC    c.480
 N |   L  K  L  Q  D  F  L  V  D  N  E  T  F  S  G  F  L  Y  H      p.160

          .         .         .         .         .         .       g.71565
 AACCTCTCTCTCCCAAAGTCTACTGTGGACAAGATGCTGAGGGCTGATGTCATTCTCCAC       c.540
 N  L  S  L  P  K  S  T  V  D  K  M  L  R  A  D  V  I  L  H         p.180

     | 07    .         .         .         .         .         .    g.74605
 AAG | GTATTTTTGCAAGGCTACCAGTTACATTTGACAAGTCTGTGCAATGGATCAAAATCA    c.600
 K   | V  F  L  Q  G  Y  Q  L  H  L  T  S  L  C  N  G  S  K  S      p.200

          .         .         .         .         .         .       g.74665
 GAAGAGATGATTCAACTTGGTGACCAAGAAGTTTCTGAGCTTTGTGGCCTACCAAGGGAG       c.660
 E  E  M  I  Q  L  G  D  Q  E  V  S  E  L  C  G  L  P  R  E         p.220

          .         .         .         .         .         .       g.74725
 AAACTGGCTGCAGCAGAGCGAGTACTTCGTTCCAACATGGACATCCTGAAGCCAATCCTG       c.720
 K  L  A  A  A  E  R  V  L  R  S  N  M  D  I  L  K  P  I  L         p.240

  | 08       .         .         .         .         .         .    g.87737
  | AGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACA    c.780
  | R  T  L  N  S  T  S  P  F  P  S  K  E  L  A  E  A  T  K  T      p.260

          .         .         .    | 09    .         .         .    g.92754
 TTGCTGCATAGTCTTGGGACTCTGGCCCAGGAG | CTGTTCAGCATGAGAAGCTGGAGTGAC    c.840
 L  L  H  S  L  G  T  L  A  Q  E   | L  F  S  M  R  S  W  S  D      p.280

          .         .         .         .         .         .       g.92814
 ATGCGACAGGAGGTGATGTTTCTGACCAATGTGAACAGCTCCAGCTCCTCCACCCAAATC       c.900
 M  R  Q  E  V  M  F  L  T  N  V  N  S  S  S  S  S  T  Q  I         p.300

          .         .         .         .         .         .       g.92874
 TACCAGGCTGTGTCTCGTATTGTCTGCGGGCATCCCGAGGGAGGGGGGCTGAAGATCAAG       c.960
 Y  Q  A  V  S  R  I  V  C  G  H  P  E  G  G  G  L  K  I  K         p.320

          .         .         .         .         .         .       g.92934
 TCTCTCAACTGGTATGAGGACAACAACTACAAAGCCCTCTTTGGAGGCAATGGCACTGAG       c.1020
 S  L  N  W  Y  E  D  N  N  Y  K  A  L  F  G  G  N  G  T  E         p.340

          .         .         .     | 10   .         .         .    g.95705
 GAAGATGCTGAAACCTTCTATGACAACTCTACAA | CTCCTTACTGCAATGATTTGATGAAG    c.1080
 E  D  A  E  T  F  Y  D  N  S  T  T |   P  Y  C  N  D  L  M  K      p.360

          .         .         .         .         .         .       g.95765
 AATTTGGAGTCTAGTCCTCTTTCCCGCATTATCTGGAAAGCTCTGAAGCCGCTGCTCGTT       c.1140
 N  L  E  S  S  P  L  S  R  I  I  W  K  A  L  K  P  L  L  V         p.380

          .         .         .         .         .     | 11   .    g.96156
 GGGAAGATCCTGTATACACCTGACACTCCAGCCACAAGGCAGGTCATGGCTGAG | GTGAAC    c.1200
 G  K  I  L  Y  T  P  D  T  P  A  T  R  Q  V  M  A  E   | V  N      p.400

          .         .         .         .         .         .       g.96216
 AAGACCTTCCAGGAACTGGCTGTGTTCCATGATCTGGAAGGCATGTGGGAGGAACTCAGC       c.1260
 K  T  F  Q  E  L  A  V  F  H  D  L  E  G  M  W  E  E  L  S         p.420

          .         .         .         .         .  | 12      .    g.100484
 CCCAAGATCTGGACCTTCATGGAGAACAGCCAAGAAATGGACCTTGTCCGG | ATGCTGTTG    c.1320
 P  K  I  W  T  F  M  E  N  S  Q  E  M  D  L  V  R   | M  L  L      p.440

          .         .         .         .         .         .       g.100544
 GACAGCAGGGACAATGACCACTTTTGGGAACAGCAGTTGGATGGCTTAGATTGGACAGCC       c.1380
 D  S  R  D  N  D  H  F  W  E  Q  Q  L  D  G  L  D  W  T  A         p.460

          .         .         .         .         .         .       g.100604
 CAAGACATCGTGGCGTTTTTGGCCAAGCACCCAGAGGATGTCCAGTCCAGTAATGGTTCT       c.1440
 Q  D  I  V  A  F  L  A  K  H  P  E  D  V  Q  S  S  N  G  S         p.480

          .         .         .         .         .         .       g.100664
 GTGTACACCTGGAGAGAAGCTTTCAACGAGACTAACCAGGCAATCCGGACCATATCTCGC       c.1500
 V  Y  T  W  R  E  A  F  N  E  T  N  Q  A  I  R  T  I  S  R         p.500

           | 13        .         .         .         .         .    g.101470
 TTCATGGAG | TGTGTCAACCTGAACAAGCTAGAACCCATAGCAACAGAAGTCTGGCTCATC    c.1560
 F  M  E   | C  V  N  L  N  K  L  E  P  I  A  T  E  V  W  L  I      p.520

          .         .         .         .         .         .       g.101530
 AACAAGTCCATGGAGCTGCTGGATGAGAGGAAGTTCTGGGCTGGTATTGTGTTCACTGGA       c.1620
 N  K  S  M  E  L  L  D  E  R  K  F  W  A  G  I  V  F  T  G         p.540

          .         .         .         .         .         .       g.101590
 ATTACTCCAGGCAGCATTGAGCTGCCCCATCATGTCAAGTACAAGATCCGAATGGACATT       c.1680
 I  T  P  G  S  I  E  L  P  H  H  V  K  Y  K  I  R  M  D  I         p.560

          .         .         .      | 14  .         .         .    g.102170
 GACAATGTGGAGAGGACAAATAAAATCAAGGATGG | GTACTGGGACCCTGGTCCTCGAGCT    c.1740
 D  N  V  E  R  T  N  K  I  K  D  G  |  Y  W  D  P  G  P  R  A      p.580

          .         .         .         .         .         .       g.102230
 GACCCCTTTGAGGACATGCGGTACGTCTGGGGGGGCTTCGCCTACTTGCAGGATGTGGTG       c.1800
 D  P  F  E  D  M  R  Y  V  W  G  G  F  A  Y  L  Q  D  V  V         p.600

          .         .         .         .         .         .       g.102290
 GAGCAGGCAATCATCAGGGTGCTGACGGGCACCGAGAAGAAAACTGGTGTCTATATGCAA       c.1860
 E  Q  A  I  I  R  V  L  T  G  T  E  K  K  T  G  V  Y  M  Q         p.620

          .         .         .   | 15     .         .         .    g.104136
 CAGATGCCCTATCCCTGTTACGTTGATGACAT | CTTTCTGCGGGTGATGAGCCGGTCAATG    c.1920
 Q  M  P  Y  P  C  Y  V  D  D  I  |  F  L  R  V  M  S  R  S  M      p.640

          .         .         .         .         .         .       g.104196
 CCCCTCTTCATGACGCTGGCCTGGATTTACTCAGTGGCTGTGATCATCAAGGGCATCGTG       c.1980
 P  L  F  M  T  L  A  W  I  Y  S  V  A  V  I  I  K  G  I  V         p.660

          .         .         .         .         .         .       g.104256
 TATGAGAAGGAGGCACGGCTGAAAGAGACCATGCGGATCATGGGCCTGGACAACAGCATC       c.2040
 Y  E  K  E  A  R  L  K  E  T  M  R  I  M  G  L  D  N  S  I         p.680

          .         .         .         .         .         .       g.104316
 CTCTGGTTTAGCTGGTTCATTAGTAGCCTCATTCCTCTTCTTGTGAGCGCTGGCCTGCTA       c.2100
 L  W  F  S  W  F  I  S  S  L  I  P  L  L  V  S  A  G  L  L         p.700

          .      | 16  .         .         .         .         .    g.106122
 GTGGTCATCCTGAAG | TTAGGAAACCTGCTGCCCTACAGTGATCCCAGCGTGGTGTTTGTC    c.2160
 V  V  I  L  K   | L  G  N  L  L  P  Y  S  D  P  S  V  V  F  V      p.720

          .         .         .         .         .         .       g.106182
 TTCCTGTCCGTGTTTGCTGTGGTGACAATCCTGCAGTGCTTCCTGATTAGCACACTCTTC       c.2220
 F  L  S  V  F  A  V  V  T  I  L  Q  C  F  L  I  S  T  L  F         p.740

          .         .         .         .         .         .       g.106242
 TCCAGAGCCAACCTGGCAGCAGCCTGTGGGGGCATCATCTACTTCACGCTGTACCTGCCC       c.2280
 S  R  A  N  L  A  A  A  C  G  G  I  I  Y  F  T  L  Y  L  P         p.760

          .         .         .         .         .        | 17.    g.107362
 TACGTCCTGTGTGTGGCATGGCAGGACTACGTGGGCTTCACACTCAAGATCTTCGCT | AGC    c.2340
 Y  V  L  C  V  A  W  Q  D  Y  V  G  F  T  L  K  I  F  A   | S      p.780

          .         .         .         .         .         .       g.107422
 CTGCTGTCTCCTGTGGCTTTTGGGTTTGGCTGTGAGTACTTTGCCCTTTTTGAGGAGCAG       c.2400
 L  L  S  P  V  A  F  G  F  G  C  E  Y  F  A  L  F  E  E  Q         p.800

          .         .         .         .         .         .       g.107482
 GGCATTGGAGTGCAGTGGGACAACCTGTTTGAGAGTCCTGTGGAGGAAGATGGCTTCAAT       c.2460
 G  I  G  V  Q  W  D  N  L  F  E  S  P  V  E  E  D  G  F  N         p.820

          .         .         .         .         .         .       g.107542
 CTCACCACTTCGGTCTCCATGATGCTGTTTGACACCTTCCTCTATGGGGTGATGACCTGG       c.2520
 L  T  T  S  V  S  M  M  L  F  D  T  F  L  Y  G  V  M  T  W         p.840

          .         .   | 18     .         .         .         .    g.108706
 TACATTGAGGCTGTCTTTCCAG | GCCAGTACGGAATTCCCAGGCCCTGGTATTTTCCTTGC    c.2580
 Y  I  E  A  V  F  P  G |   Q  Y  G  I  P  R  P  W  Y  F  P  C      p.860

          .         .         .         .         .         .       g.108766
 ACCAAGTCCTACTGGTTTGGCGAGGAAAGTGATGAGAAGAGCCACCCTGGTTCCAACCAG       c.2640
 T  K  S  Y  W  F  G  E  E  S  D  E  K  S  H  P  G  S  N  Q         p.880

          .       | 19 .         .         .         .         .    g.110623
 AAGAGAATATCAGAAA | TCTGCATGGAGGAGGAACCCACCCACTTGAAGCTGGGCGTGTCC    c.2700
 K  R  I  S  E  I |   C  M  E  E  E  P  T  H  L  K  L  G  V  S      p.900

          .         .         .         .         .         .       g.110683
 ATTCAGAACCTGGTAAAAGTCTACCGAGATGGGATGAAGGTGGCTGTCGATGGCCTGGCA       c.2760
 I  Q  N  L  V  K  V  Y  R  D  G  M  K  V  A  V  D  G  L  A         p.920

          .         .         .         .         .         .       g.110743
 CTGAATTTTTATGAGGGCCAGATCACCTCCTTCCTGGGCCACAATGGAGCGGGGAAGACG       c.2820
 L  N  F  Y  E  G  Q  I  T  S  F  L  G  H  N  G  A  G  K  T         p.940

          | 20         .         .         .         .         .    g.111792
 ACCACCAT | GTCAATCCTGACCGGGTTGTTCCCCCCGACCTCGGGCACCGCCTACATCCTG    c.2880
 T  T  M  |  S  I  L  T  G  L  F  P  P  T  S  G  T  A  Y  I  L      p.960

          .         .         .         .         .         .       g.111852
 GGAAAAGACATTCGCTCTGAGATGAGCACCATCCGGCAGAACCTGGGGGTCTGTCCCCAG       c.2940
 G  K  D  I  R  S  E  M  S  T  I  R  Q  N  L  G  V  C  P  Q         p.980

          .         . | 21       .         .         .         .    g.113217
 CATAACGTGCTGTTTGACAT | GCTGACTGTCGAAGAACACATCTGGTTCTATGCCCGCTTG    c.3000
 H  N  V  L  F  D  M  |  L  T  V  E  E  H  I  W  F  Y  A  R  L      p.1000

          .         .         .         .         .         .       g.113277
 AAAGGGCTCTCTGAGAAGCACGTGAAGGCGGAGATGGAGCAGATGGCCCTGGATGTTGGT       c.3060
 K  G  L  S  E  K  H  V  K  A  E  M  E  Q  M  A  L  D  V  G         p.1020

          .         .         .         .    | 22    .         .    g.113540
 TTGCCATCAAGCAAGCTGAAAAGCAAAACAAGCCAGCTGTCAG | GTGGAATGCAGAGAAAG    c.3120
 L  P  S  S  K  L  K  S  K  T  S  Q  L  S  G |   G  M  Q  R  K      p.1040

          .         .         .         .         .         .       g.113600
 CTATCTGTGGCCTTGGCCTTTGTCGGGGGATCTAAGGTTGTCATTCTGGATGAACCCACA       c.3180
 L  S  V  A  L  A  F  V  G  G  S  K  V  V  I  L  D  E  P  T         p.1060

          .         .         .         .         .         .       g.113660
 GCTGGTGTGGACCCTTACTCCCGCAGGGGAATATGGGAGCTGCTGCTGAAATACCGACAA       c.3240
 A  G  V  D  P  Y  S  R  R  G  I  W  E  L  L  L  K  Y  R  Q         p.1080

   | 23      .         .         .         .         .         .    g.114422
 G | GCCGCACCATTATTCTCTCTACACACCACATGGATGAAGCGGACGTCCTGGGGGACAGG    c.3300
 G |   R  T  I  I  L  S  T  H  H  M  D  E  A  D  V  L  G  D  R      p.1100

          .         .         .         .         .         .       g.114482
 ATTGCCATCATCTCCCATGGGAAGCTGTGCTGTGTGGGCTCCTCCCTGTTTCTGAAGAAC       c.3360
 I  A  I  I  S  H  G  K  L  C  C  V  G  S  S  L  F  L  K  N         p.1120

          .         .         .         .         .         .       g.114542
 CAGCTGGGAACAGGCTACTACCTGACCTTGGTCAAGAAAGATGTGGAATCCTCCCTCAGT       c.3420
 Q  L  G  T  G  Y  Y  L  T  L  V  K  K  D  V  E  S  S  L  S         p.1140

          .         .         .         .   | 24     .         .    g.115860
 TCCTGCAGAAACAGTAGTAGCACTGTGTCATACCTGAAAAAG | GAGGACAGTGTTTCTCAG    c.3480
 S  C  R  N  S  S  S  T  V  S  Y  L  K  K   | E  D  S  V  S  Q      p.1160

          .         .         .         .         .      | 25  .    g.116906
 AGCAGTTCTGATGCTGGCCTGGGCAGCGACCATGAGAGTGACACGCTGACCATCG | ATGTC    c.3540
 S  S  S  D  A  G  L  G  S  D  H  E  S  D  T  L  T  I  D |   V      p.1180

          .         .         .         .         .         .       g.116966
 TCTGCTATCTCCAACCTCATCAGGAAGCATGTGTCTGAAGCCCGGCTGGTGGAAGACATA       c.3600
 S  A  I  S  N  L  I  R  K  H  V  S  E  A  R  L  V  E  D  I         p.1200

          .         .         .         .         .         .       g.117026
 GGGCATGAGCTGACCTATGTGCTGCCATATGAAGCTGCTAAGGAGGGAGCCTTTGTGGAA       c.3660
 G  H  E  L  T  Y  V  L  P  Y  E  A  A  K  E  G  A  F  V  E         p.1220

          .         .         .         .         .         .       g.117086
 CTCTTTCATGAGATTGATGACCGGCTCTCAGACCTGGGCATTTCTAGTTATGGCATCTCA       c.3720
 L  F  H  E  I  D  D  R  L  S  D  L  G  I  S  S  Y  G  I  S         p.1240

          .         | 26         .         .         .         .    g.118813
 GAGACGACCCTGGAAGAA | ATATTCCTCAAGGTGGCCGAAGAGAGTGGGGTGGATGCTGAG    c.3780
 E  T  T  L  E  E   | I  F  L  K  V  A  E  E  S  G  V  D  A  E      p.1260

         | 27.         .         .         .         .         .    g.119068
 ACCTCAG | ATGGTACCTTGCCAGCAAGACGAAACAGGCGGGCCTTCGGGGACAAGCAGAGC    c.3840
 T  S  D |   G  T  L  P  A  R  R  N  R  R  A  F  G  D  K  Q  S      p.1280

          .         .         .         .         .         .       g.119128
 TGTCTTCGCCCGTTCACTGAAGATGATGCTGCTGATCCAAATGATTCTGACATAGACCCA       c.3900
 C  L  R  P  F  T  E  D  D  A  A  D  P  N  D  S  D  I  D  P         p.1300

   | 28      .         .         .         .         .         .    g.120583
 G | AATCCAGAGAGACAGACTTGCTCAGTGGGATGGATGGCAAAGGGTCCTACCAGGTGAAA    c.3960
 E |   S  R  E  T  D  L  L  S  G  M  D  G  K  G  S  Y  Q  V  K      p.1320

          .         .         .         .         .         .       g.120643
 GGCTGGAAACTTACACAGCAACAGTTTGTGGCCCTTTTGTGGAAGAGACTGCTAATTGCC       c.4020
 G  W  K  L  T  Q  Q  Q  F  V  A  L  L  W  K  R  L  L  I  A         p.1340

          .         .         . | 29       .         .         .    g.122352
 AGACGGAGTCGGAAAGGATTTTTTGCTCAG | ATTGTCTTGCCAGCTGTGTTTGTCTGCATT    c.4080
 R  R  S  R  K  G  F  F  A  Q   | I  V  L  P  A  V  F  V  C  I      p.1360

          .         .         .         .         .         .       g.122412
 GCCCTTGTGTTCAGCCTGATCGTGCCACCCTTTGGCAAGTACCCCAGCCTGGAACTTCAG       c.4140
 A  L  V  F  S  L  I  V  P  P  F  G  K  Y  P  S  L  E  L  Q         p.1380

          .         .         .      | 30  .         .         .    g.123707
 CCCTGGATGTACAACGAACAGTACACATTTGTCAG | CAATGATGCTCCTGAGGACACGGGA    c.4200
 P  W  M  Y  N  E  Q  Y  T  F  V  S  |  N  D  A  P  E  D  T  G      p.1400

          .         .         .         .         .         .       g.123767
 ACCCTGGAACTCTTAAACGCCCTCACCAAAGACCCTGGCTTCGGGACCCGCTGTATGGAA       c.4260
 T  L  E  L  L  N  A  L  T  K  D  P  G  F  G  T  R  C  M  E         p.1420

          .     | 31   .         .         .         .         .    g.126862
 GGAAACCCAATCCC | AGACACGCCCTGCCAGGCAGGGGAGGAAGAGTGGACCACTGCCCCA    c.4320
 G  N  P  I  P  |  D  T  P  C  Q  A  G  E  E  E  W  T  T  A  P      p.1440

          .         .         .         .         .         .       g.126922
 GTTCCCCAGACCATCATGGACCTCTTCCAGAATGGGAACTGGACAATGCAGAACCCTTCA       c.4380
 V  P  Q  T  I  M  D  L  F  Q  N  G  N  W  T  M  Q  N  P  S         p.1460

          .         .         .         .         .         .       g.126982
 CCTGCATGCCAGTGTAGCAGCGACAAAATCAAGAAGATGCTGCCTGTGTGTCCCCCAGGG       c.4440
 P  A  C  Q  C  S  S  D  K  I  K  K  M  L  P  V  C  P  P  G         p.1480

          .         .     | 32   .         .         .         .    g.128562
 GCAGGGGGGCTGCCTCCTCCACAA | AGAAAACAAAACACTGCAGATATCCTTCAGGACCTG    c.4500
 A  G  G  L  P  P  P  Q   | R  K  Q  N  T  A  D  I  L  Q  D  L      p.1500

          .         .         .         .         .          | 33    g.129931
 ACAGGAAGAAACATTTCGGATTATCTGGTGAAGACGTATGTGCAGATCATAGCCAAAAG | C    c.4560
 T  G  R  N  I  S  D  Y  L  V  K  T  Y  V  Q  I  I  A  K  S  |      p.1520

          .         .         .   | 34     .         .         .    g.131115
 TTAAAGAACAAGATCTGGGTGAATGAGTTTAG | GTATGGCGGCTTTTCCCTGGGTGTCAGT    c.4620
 L  K  N  K  I  W  V  N  E  F  R  |  Y  G  G  F  S  L  G  V  S      p.1540

          .         .         .         .         .         .       g.131175
 AATACTCAAGCACTTCCTCCGAGTCAAGAAGTTAATGATGCCATCAAACAAATGAAGAAA       c.4680
 N  T  Q  A  L  P  P  S  Q  E  V  N  D  A  I  K  Q  M  K  K         p.1560

          .         | 35         .         .         .         .    g.132704
 CACCTAAAGCTGGCCAAG | GACAGTTCTGCAGATCGATTTCTCAACAGCTTGGGAAGATTT    c.4740
 H  L  K  L  A  K   | D  S  S  A  D  R  F  L  N  S  L  G  R  F      p.1580

          .         .         .    | 36    .         .         .    g.133285
 ATGACAGGACTGGACACCAAAAATAATGTCAAG | GTGTGGTTCAATAACAAGGGCTGGCAT    c.4800
 M  T  G  L  D  T  K  N  N  V  K   | V  W  F  N  N  K  G  W  H      p.1600

          .         .         .         .         .         .       g.133345
 GCAATCAGCTCTTTCCTGAATGTCATCAACAATGCCATTCTCCGGGCCAACCTGCAAAAG       c.4860
 A  I  S  S  F  L  N  V  I  N  N  A  I  L  R  A  N  L  Q  K         p.1620

          .         .         .         .         .         .       g.133405
 GGAGAGAACCCTAGCCATTATGGAATTACTGCTTTCAATCATCCCCTGAATCTCACCAAG       c.4920
 G  E  N  P  S  H  Y  G  I  T  A  F  N  H  P  L  N  L  T  K         p.1640

          .         .    | 37    .         .         .         .    g.134685
 CAGCAGCTCTCAGAGGTGGCTCT | GATGACCACATCAGTGGATGTCCTTGTGTCCATCTGT    c.4980
 Q  Q  L  S  E  V  A  L  |  M  T  T  S  V  D  V  L  V  S  I  C      p.1660

          .         .         .         .         .         .       g.134745
 GTCATCTTTGCAATGTCCTTCGTCCCAGCCAGCTTTGTCGTATTCCTGATCCAGGAGCGG       c.5040
 V  I  F  A  M  S  F  V  P  A  S  F  V  V  F  L  I  Q  E  R         p.1680

          .         .         .         .         .         .       g.134805
 GTCAGCAAAGCAAAACACCTGCAGTTCATCAGTGGAGTGAAGCCTGTCATCTACTGGCTC       c.5100
 V  S  K  A  K  H  L  Q  F  I  S  G  V  K  P  V  I  Y  W  L         p.1700

          .         .  | 38      .         .         .         .    g.136861
 TCTAATTTTGTCTGGGATATG | TGCAATTACGTTGTCCCTGCCACACTGGTCATTATCATC    c.5160
 S  N  F  V  W  D  M   | C  N  Y  V  V  P  A  T  L  V  I  I  I      p.1720

          .         .         .         .         .         .       g.136921
 TTCATCTGCTTCCAGCAGAAGTCCTATGTGTCCTCCACCAATCTGCCTGTGCTAGCCCTT       c.5220
 F  I  C  F  Q  Q  K  S  Y  V  S  S  T  N  L  P  V  L  A  L         p.1740

          .        | 39.         .         .         .         .    g.137092
 CTACTTTTGCTGTATGG | GTGGTCAATCACACCTCTCATGTACCCAGCCTCCTTTGTGTTC    c.5280
 L  L  L  L  Y  G  |  W  S  I  T  P  L  M  Y  P  A  S  F  V  F      p.1760

          .         .         .         .         .         .       g.137152
 AAGATCCCCAGCACAGCCTATGTGGTGCTCACCAGCGTGAACCTCTTCATTGGCATTAAT       c.5340
 K  I  P  S  T  A  Y  V  V  L  T  S  V  N  L  F  I  G  I  N         p.1780

          .         .         .         .   | 40     .         .    g.138754
 GGCAGCGTGGCCACCTTTGTGCTGGAGCTGTTCACCGACAAT | AAGCTGAATAATATCAAT    c.5400
 G  S  V  A  T  F  V  L  E  L  F  T  D  N   | K  L  N  N  I  N      p.1800

          .         .         .         .         .         .       g.138814
 GATATCCTGAAGTCCGTGTTCTTGATCTTCCCACATTTTTGCCTGGGACGAGGGCTCATC       c.5460
 D  I  L  K  S  V  F  L  I  F  P  H  F  C  L  G  R  G  L  I         p.1820

          .         .         .         .       | 41 .         .    g.139960
 GACATGGTGAAAAACCAGGCAATGGCTGATGCCCTGGAAAGGTTTG | GGGAGAATCGCTTT    c.5520
 D  M  V  K  N  Q  A  M  A  D  A  L  E  R  F  G |   E  N  R  F      p.1840

          .         .         .         .         .         .       g.140020
 GTGTCACCATTATCTTGGGACTTGGTGGGACGAAACCTCTTCGCCATGGCCGTGGAAGGG       c.5580
 V  S  P  L  S  W  D  L  V  G  R  N  L  F  A  M  A  V  E  G         p.1860

          .         .         .         .         .       | 42 .    g.140344
 GTGGTGTTCTTCCTCATTACTGTTCTGATCCAGTACAGATTCTTCATCAGGCCCAG | ACCT    c.5640
 V  V  F  F  L  I  T  V  L  I  Q  Y  R  F  F  I  R  P  R  |  P      p.1880

          .         .         .         .         .         .       g.140404
 GTAAATGCAAAGCTATCTCCTCTGAATGATGAAGATGAAGATGTGAGGCGGGAAAGACAG       c.5700
 V  N  A  K  L  S  P  L  N  D  E  D  E  D  V  R  R  E  R  Q         p.1900

          .         .         .         .         .        | 43.    g.141251
 AGAATTCTTGATGGTGGAGGCCAGAATGACATCTTAGAAATCAAGGAGTTGACGAAG | ATA    c.5760
 R  I  L  D  G  G  G  Q  N  D  I  L  E  I  K  E  L  T  K   | I      p.1920

          .         .         .         .         .         .       g.141311
 TATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAG       c.5820
 Y  R  R  K  R  K  P  A  V  D  R  I  C  V  G  I  P  P  G  E         p.1940

  | 44       .         .         .         .         .         .    g.142278
  | TGCTTTGGGCTCCTGGGAGTTAATGGGGCTGGAAAATCATCAACTTTCAAGATGTTAACA    c.5880
  | C  F  G  L  L  G  V  N  G  A  G  K  S  S  T  F  K  M  L  T      p.1960

          .         .         .         .        | 45.         .    g.144692
 GGAGATACCACTGTTACCAGAGGAGATGCTTTCCTTAACAAAAATAG | TATCTTATCAAAC    c.5940
 G  D  T  T  V  T  R  G  D  A  F  L  N  K  N  S  |  I  L  S  N      p.1980

          .         .         .         .         .         .       g.144752
 ATCCATGAAGTACATCAGAACATGGGCTACTGCCCTCAGTTTGATGCCATCACAGAGCTG       c.6000
 I  H  E  V  H  Q  N  M  G  Y  C  P  Q  F  D  A  I  T  E  L         p.2000

          .         .         .         .         .         .       g.144812
 TTGACTGGGAGAGAACACGTGGAGTTCTTTGCCCTTTTGAGAGGAGTCCCAGAGAAAGAA       c.6060
 L  T  G  R  E  H  V  E  F  F  A  L  L  R  G  V  P  E  K  E         p.2020

           | 46        .         .         .         .         .    g.145243
 GTTGGCAAG | GTTGGTGAGTGGGCGATTCGGAAACTGGGCCTCGTGAAGTATGGAGAAAAA    c.6120
 V  G  K   | V  G  E  W  A  I  R  K  L  G  L  V  K  Y  G  E  K      p.2040

          .         .         .         .         .         .       g.145303
 TATGCTGGTAACTATAGTGGAGGCAACAAACGCAAGCTCTCTACAGCCATGGCTTTGATC       c.6180
 Y  A  G  N  Y  S  G  G  N  K  R  K  L  S  T  A  M  A  L  I         p.2060

          .         .     | 47   .         .         .         .    g.146306
 GGCGGGCCTCCTGTGGTGTTTCTG | GATGAACCCACCACAGGCATGGATCCCAAAGCCCGG    c.6240
 G  G  P  P  V  V  F  L   | D  E  P  T  T  G  M  D  P  K  A  R      p.2080

          .         .         .         .         .         .       g.146366
 CGGTTCTTGTGGAATTGTGCCCTAAGTGTTGTCAAGGAGGGGAGATCAGTAGTGCTTACA       c.6300
 R  F  L  W  N  C  A  L  S  V  V  K  E  G  R  S  V  V  L  T         p.2100

          | 48         .         .         .         .         .    g.146908
 TCTCATAG | TATGGAAGAATGTGAAGCTCTTTGCACTAGGATGGCAATCATGGTCAATGGA    c.6360
 S  H  S  |  M  E  E  C  E  A  L  C  T  R  M  A  I  M  V  N  G      p.2120

          .         .         .         .  | 49      .         .    g.147626
 AGGTTCAGGTGCCTTGGCAGTGTCCAGCATCTAAAAAATAG | GTTTGGAGATGGTTATACA    c.6420
 R  F  R  C  L  G  S  V  Q  H  L  K  N  R  |  F  G  D  G  Y  T      p.2140

          .         .         .         .         .         .       g.147686
 ATAGTTGTACGAATAGCAGGGTCCAACCCGGACCTGAAGCCTGTCCAGGATTTCTTTGGA       c.6480
 I  V  V  R  I  A  G  S  N  P  D  L  K  P  V  Q  D  F  F  G         p.2160

          .         .         .         .         .         .       g.147746
 CTTGCATTTCCTGGAAGTGTTCTAAAAGAGAAACACCGGAACATGCTACAATACCAGCTT       c.6540
 L  A  F  P  G  S  V  L  K  E  K  H  R  N  M  L  Q  Y  Q  L         p.2180

          .         .         .         .         .         .       g.147806
 CCATCTTCATTATCTTCTCTGGCCAGGATATTCAGCATCCTCTCCCAGAGCAAAAAGCGA       c.6600
 P  S  S  L  S  S  L  A  R  I  F  S  I  L  S  Q  S  K  K  R         p.2200

          .         .         .         .      | 50  .         .    g.148806
 CTCCACATAGAAGACTACTCTGTTTCTCAGACAACACTTGACCAA | GTATTTGTGAACTTT    c.6660
 L  H  I  E  D  Y  S  V  S  Q  T  T  L  D  Q   | V  F  V  N  F      p.2220

          .         .         .         .         .         .       g.148866
 GCCAAGGACCAAAGTGATGATGACCACTTAAAAGACCTCTCATTACACAAAAACCAGACA       c.6720
 A  K  D  Q  S  D  D  D  H  L  K  D  L  S  L  H  K  N  Q  T         p.2240

          .         .         .         .         .         .       g.148926
 GTAGTGGACGTTGCAGTTCTCACATCTTTTCTACAGGATGAGAAAGTGAAAGAAAGCTAT       c.6780
 V  V  D  V  A  V  L  T  S  F  L  Q  D  E  K  V  K  E  S  Y         p.2260

                                                                    g.148932
 GTATGA                                                             c.6786
 V  X                                                               p.2261

          .         .         .         .         .         .       g.148992
 agaatcctgttcatacggggtggctgaaagtaaagaggaactagactttcctttgcacca       c.*60

          .         .         .         .         .         .       g.149052
 tgtgaagtgttgtggagaaaagagccagaagttgatgtgggaagaagtaaactggatact       c.*120

          .         .         .         .         .         .       g.149112
 gtactgatactattcaatgcaatgcaattcaatgcaatgaaaacaaaattccattacagg       c.*180

          .         .         .         .         .         .       g.149172
 ggcagtgcctttgtagcctatgtcttgtatggctctcaagtgaaagacttgaatttagtt       c.*240

          .         .         .         .         .         .       g.149232
 ttttacctatacctatgtgaaactctattatggaacccaatggacatatgggtttgaact       c.*300

          .         .         .         .         .         .       g.149292
 cacacttttttttttttttttgttcctgtgtattctcattggggttgcaacaataattca       c.*360

          .         .         .         .         .         .       g.149352
 tcaagtaatcatggccagcgattattgatcaaaatcaaaaggtaatgcacatcctcattc       c.*420

          .         .         .         .         .         .       g.149412
 actaagccatgccatgcccaggagactggtttcccggtgacacatccattgctggcaatg       c.*480

          .         .         .         .         .         .       g.149472
 agtgtgccagagttattagtgccaagtttttcagaaagtttgaagcaccatggtgtgtca       c.*540

          .         .         .         .         .         .       g.149532
 tgctcacttttgtgaaagctgctctgctcagagtctatcaacattgaatatcagttgaca       c.*600

          .         .         .         .         .         .       g.149592
 gaatggtgccatgcgtggctaacatcctgctttgattccctctgataagctgttctggtg       c.*660

          .         .         .         .         .         .       g.149652
 gcagtaacatgcaacaaaaatgtgggtgtctccaggcacgggaaacttggttccattgtt       c.*720

          .         .         .         .         .         .       g.149712
 atattgtcctatgcttcgagccatgggtctacagggtcatccttatgagactcttaaata       c.*780

          .         .         .         .         .         .       g.149772
 tacttagatcctggtaagaggcaaagaatcaacagccaaactgctggggctgcaagctgc       c.*840

          .         .         .         .         .         .       g.149832
 tgaagccagggcatgggattaaagagattgtgcgttcaaacctagggaagcctgtgccca       c.*900

          .         .         .         .         .         .       g.149892
 tttgtcctgactgtctgctaacatggtacactgcatctcaagatgtttatctgacacaag       c.*960

          .         .         .         .         .         .       g.149952
 tgtattatttctggctttttgaattaatctagaaaatgaaaagatggagttgtattttga       c.*1020

          .         .         .         .         .         .       g.150012
 caaaaatgtttgtactttttaatgttatttggaattttaagttctatcagtgacttctga       c.*1080

          .         .         .         .         .         .       g.150072
 atccttagaatggcctctttgtagaaccctgtggtatagaggagtatggccactgcccca       c.*1140

          .         .         .         .         .         .       g.150132
 ctatttttattttcttatgtaagtttgcatatcagtcatgactagtgcctagaaagcaat       c.*1200

          .         .         .         .         .         .       g.150192
 gtgatggtcaggatctcatgacattatatttgagtttctttcagatcatttaggatactc       c.*1260

          .         .         .         .         .         .       g.150252
 ttaatctcacttcatcaatcaaatattttttgagtgtatgctgtagctgaaagagtatgt       c.*1320

          .         .         .         .         .         .       g.150312
 acgtacgtataagactagagagatattaagtctcagtacacttcctgtgccatgttattc       c.*1380

          .         .         .         .         .         .       g.150372
 agctcactggtttacaaatataggttgtcttgtggttgtaggagcccactgtaacaatac       c.*1440

          .         .         .         .         .         .       g.150432
 tgggcagcctttttttttttttttttaattgcaacaatgcaaaagccaagaaagtataag       c.*1500

          .         .         .         .         .         .       g.150492
 ggtcacaagtctaaacaatgaattcttcaacagggaaaacagctagcttgaaaacttgct       c.*1560

          .         .         .         .         .         .       g.150552
 gaaaaacacaacttgtgtttatggcatttagtaccttcaaataattggctttgcagatat       c.*1620

          .         .         .         .         .         .       g.150612
 tggataccccattaaatctgacagtctcaaatttttcatctcttcaatcactagtcaaga       c.*1680

          .         .         .         .         .         .       g.150672
 aaaatataaaaacaacaaatacttccatatggagcatttttcagagttttctaacccagt       c.*1740

          .         .         .         .         .         .       g.150732
 cttatttttctagtcagtaaacatttgtaaaaatactgtttcactaatacttactgttaa       c.*1800

          .         .         .         .         .         .       g.150792
 ctgtcttgagagaaaagaaaaatatgagagaactattgtttggggaagttcaagtgatct       c.*1860

          .         .         .         .         .         .       g.150852
 ttcaatatcattactaacttcttccactttttccagaatttgaatattaacgctaaaggt       c.*1920

          .         .         .         .         .         .       g.150912
 gtaagacttcagatttcaaattaatctttctatattttttaaatttacagaatattatat       c.*1980

          .         .         .         .         .         .       g.150972
 aacccactgctgaaaaagaaaaaaatgattgttttagaagttaaagtcaatattgatttt       c.*2040

          .         .         .         .         .         .       g.151032
 aaatataagtaatgaaggcatatttccaataactagtgatatggcatcgttgcattttac       c.*2100

          .         .         .         .         .         .       g.151092
 agtatcttcaaaaatacagaatttatagaataatttctcctcatttaatatttttcaaaa       c.*2160

          .         .         .         .         .         .       g.151152
 tcaaagttatggtttcctcattttactaaaatcgtattctaattcttcattatagtaaat       c.*2220

          .         .         .         .         .         .       g.151212
 ctatgagcaactccttacttcggttcctctgatttcaaggccatattttaaaaaatcaaa       c.*2280

          .         .         .         .         .         .       g.151272
 aggcactgtgaactattttgaagaaaacacaacattttaatacagattgaaaggacctct       c.*2340

          .         .         .         .         .         .       g.151332
 tctgaagctagaaacaatctatagttatacatcttcattaatactgtgttaccttttaaa       c.*2400

          .         .         .         .         .         .       g.151392
 atagtaattttttacattttcctgtgtaaacctaattgtggtagaaatttttaccaactc       c.*2460

          .         .         .         .         .         .       g.151452
 tatactcaatcaagcaaaatttctgtatattccctgtggaatgtacctatgtgagtttca       c.*2520

          .         .         .         .         .         .       g.151512
 gaaattctcaaaatacgtgttcaaaaatttctgcttttgcatctttgggacacctcagaa       c.*2580

          .         .         .         .         .         .       g.151572
 aacttattaacaactgtgaatatgagaaatacagaagaaaataataagccctctatacat       c.*2640

          .         .         .         .         .         .       g.151632
 aaatgcccagcacaattcattgttaaaaaacaaccaaacctcacactactgtatttcatt       c.*2700

          .         .         .         .         .         .       g.151692
 atctgtactgaaagcaaatgctttgtgactattaaatgttgcacatcattcattcactgt       c.*2760

          .         .         .         .         .         .       g.151752
 atagtaatcattgactaaagccatttgtctgtgttttcttcttgtggttgtatatatcag       c.*2820

          .         .         .         .         .         .       g.151812
 gtaaaatattttccaaagagccatgtgtcatgtaatactgaaccactttgatattgagac       c.*2880

          .         .         .         .         .         .       g.151872
 attaatttgtacccttgttattatctactagtaataatgtaatactgtagaaatattgct       c.*2940

          .         .         .         .         .         .       g.151932
 ctaattcttttcaaaattgttgcatcccccttagaatgtttctatttccataaggattta       c.*3000

          .         .         .         .         .         .       g.151992
 ggtatgctattatcccttcttataccctaagatgaagctgtttttgtgctctttgttcat       c.*3060

          .         .         .         .         .         .       g.152052
 cattggccctcattccaagcactttacgctgtctgtaatgggatctatttttgcactgga       c.*3120

          .         .         .         .         .         .       g.152112
 atatctgagaattgcaaaactagacaaaagtttcacaacagatttctaagttaaatcatt       c.*3180

          .         .         .         .         .         .       g.152172
 ttcattaaaaggaaaaaagaaaaaaaattttgtatgtcaataactttatatgaagtatta       c.*3240

          .         .         .         .         .         .       g.152232
 aaatgcatatttctatgttgtaatataatgagtcacaaaataaagctgtgacagttctgt       c.*3300

          .                                                         g.152245
 tggtctacagaaa                                                      c.*3313

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The ATP-binding cassette, sub-family A (ABC1), member 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.3.0 Build 25b
©2004-2020 Leiden University Medical Center