structural maintenance of chromosomes 1A (SMC1A) - coding DNA reference sequence

(used for variant description)

(last modified November 8, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_006306.2 in the SMC1A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_006988.1, covering SMC1A transcript NM_006306.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5009
                                                    cgcgcgggc       c.-61

 .         .         .         .         .         .                g.5069
 tacctcagttctcgggcgtacggcgcggcctgtcctactgccgccggcgccgcggccgtc       c.-1

          .         .         .         .         .         .       g.5129
 ATGGGGTTCCTGAAACTGATTGAGATTGAGAACTTTAAGTCGTACAAGGGTCGACAGATT       c.60
 M  G  F  L  K  L  I  E  I  E  N  F  K  S  Y  K  G  R  Q  I         p.20

          .         .         .         .          | 02        .    g.12511
 ATCGGACCATTTCAGAGGTTCACCGCCATCATTGGACCCAATGGCTCTG | GTAAGTCAAAT    c.120
 I  G  P  F  Q  R  F  T  A  I  I  G  P  N  G  S  G |   K  S  N      p.40

          .         .         .         .         .         .       g.12571
 CTCATGGATGCCATCAGCTTTGTGCTAGGTGAAAAAACCAGCAACCTGCGGGTAAAGACC       c.180
 L  M  D  A  I  S  F  V  L  G  E  K  T  S  N  L  R  V  K  T         p.60

          .         .         .         .         .         .       g.12631
 CTGCGGGACCTGATCCATGGAGCTCCTGTGGGCAAGCCAGCTGCCAACCGGGCCTTTGTC       c.240
 L  R  D  L  I  H  G  A  P  V  G  K  P  A  A  N  R  A  F  V         p.80

          .         .         .         .         .         | 03    g.12801
 AGCATGGTCTACTCTGAGGAGGGTGCTGAGGACCGTACCTTTGCCCGTGTCATTGTAG | GA    c.300
 S  M  V  Y  S  E  E  G  A  E  D  R  T  F  A  R  V  I  V  G |       p.100

          .         .         .         .         .         .       g.12861
 GGTTCTTCTGAGTACAAGATCAACAACAAAGTGGTCCAACTACATGAGTACAGTGAGGAA       c.360
 G  S  S  E  Y  K  I  N  N  K  V  V  Q  L  H  E  Y  S  E  E         p.120

          .         .         .         .         .  | 04      .    g.14242
 TTAGAGAAGTTGGGCATTCTCATCAAAGCTCGTAACTTCCTCGTTTTCCAG | GGTGCTGTG    c.420
 L  E  K  L  G  I  L  I  K  A  R  N  F  L  V  F  Q   | G  A  V      p.140

          .         .         .         .         .         .       g.14302
 GAATCTATTGCCATGAAGAACCCCAAAGAGAGGACAGCTCTATTTGAAGAGATTAGTCGT       c.480
 E  S  I  A  M  K  N  P  K  E  R  T  A  L  F  E  E  I  S  R         p.160

          .         .         .         .         .         .       g.14362
 TCTGGGGAGCTGGCGCAGGAGTATGACAAGCGAAAGAAGGAAATGGTGAAGGCTGAAGAG       c.540
 S  G  E  L  A  Q  E  Y  D  K  R  K  K  E  M  V  K  A  E  E         p.180

          .         .         .         .         .         .       g.14422
 GACACACAGTTTAATTACCATCGCAAGAAAAATATTGCGGCTGAACGCAAGGAAGCAAAG       c.600
 D  T  Q  F  N  Y  H  R  K  K  N  I  A  A  E  R  K  E  A  K         p.200

          .      | 05  .         .         .         .         .    g.14575
 CAGGAGAAAGAAGAG | GCTGACCGGTACCAGCGCCTGAAGGATGAGGTAGTACGGGCTCAG    c.660
 Q  E  K  E  E   | A  D  R  Y  Q  R  L  K  D  E  V  V  R  A  Q      p.220

          .         .         .         .         .         .       g.14635
 GTACAGCTGCAGCTCTTTAAGCTTTACCATAATGAAGTGGAAATTGAGAAGCTCAACAAG       c.720
 V  Q  L  Q  L  F  K  L  Y  H  N  E  V  E  I  E  K  L  N  K         p.240

          .         .         .         .         .         .       g.14695
 GAACTGGCCTCAAAGAACAAGGAGATCGAGAAGGACAAGAAGCGTATGGACAAGGTGGAG       c.780
 E  L  A  S  K  N  K  E  I  E  K  D  K  K  R  M  D  K  V  E         p.260

          .         .         .         .         .         .       g.14755
 GATGAACTGAAGGAGAAGAAGAAGGAGCTGGGCAAAATGATGCGGGAGCAGCAGCAGATT       c.840
 D  E  L  K  E  K  K  K  E  L  G  K  M  M  R  E  Q  Q  Q  I         p.280

          .     | 06   .         .         .         .         .    g.15461
 GAGAAGGAGATCAA | GGAGAAGGACTCAGAATTGAACCAGAAGCGGCCTCAGTACATCAAA    c.900
 E  K  E  I  K  |  E  K  D  S  E  L  N  Q  K  R  P  Q  Y  I  K      p.300

          .         .         .         .         .         .       g.15521
 GCCAAGGAGAACACCTCCCACAAAATCAAGAAGCTGGAAGCAGCCAAGAAGTCTCTGCAG       c.960
 A  K  E  N  T  S  H  K  I  K  K  L  E  A  A  K  K  S  L  Q         p.320

          .         .         .         .         .         .       g.15581
 AATGCTCAGAAGCACTACAAGAAGCGTAAAGGTGACATGGATGAGCTGGAGAAGGAGATG       c.1020
 N  A  Q  K  H  Y  K  K  R  K  G  D  M  D  E  L  E  K  E  M         p.340

          .         .         .         .         .         .       g.15641
 CTGTCAGTGGAGAAGGCTCGGCAGGAGTTTGAAGAACGGATGGAAGAAGAGAGTCAGAGT       c.1080
 L  S  V  E  K  A  R  Q  E  F  E  E  R  M  E  E  E  S  Q  S         p.360

          .         .         .    | 07    .         .         .    g.15794
 CAGGGCAGAGATTTGACGTTGGAGGAGAATCAG | GTGAAGAAATACCACCGGTTGAAAGAA    c.1140
 Q  G  R  D  L  T  L  E  E  N  Q   | V  K  K  Y  H  R  L  K  E      p.380

          .         .         .         .         .         .       g.15854
 GAAGCCAGCAAGAGAGCAGCTACCCTGGCCCAGGAGCTGGAGAAATTCAATCGAGACCAG       c.1200
 E  A  S  K  R  A  A  T  L  A  Q  E  L  E  K  F  N  R  D  Q         p.400

          .         .         .         .         .     | 08   .    g.18190
 AAAGCTGACCAGGACCGTCTGGATCTGGAAGAACGGAAGAAAGTAGAGACAGAG | GCCAAG    c.1260
 K  A  D  Q  D  R  L  D  L  E  E  R  K  K  V  E  T  E   | A  K      p.420

          .         .         .         .         .         .       g.18250
 ATCAAGCAAAAGCTGCGGGAAATTGAAGAGAATCAGAAGCGGATTGAGAAACTGGAGGAA       c.1320
 I  K  Q  K  L  R  E  I  E  E  N  Q  K  R  I  E  K  L  E  E         p.440

          .        | 09.         .         .         .         .    g.18461
 TACATCACCACTAGCAA | GCAGTCCCTAGAAGAGCAGAAGAAGCTAGAGGGGGAGCTGACA    c.1380
 Y  I  T  T  S  K  |  Q  S  L  E  E  Q  K  K  L  E  G  E  L  T      p.460

          .         .         .         .         .         .       g.18521
 GAGGAGGTGGAGATGGCCAAGCGGCGTATTGATGAAATCAATAAGGAGCTGAACCAGGTG       c.1440
 E  E  V  E  M  A  K  R  R  I  D  E  I  N  K  E  L  N  Q  V         p.480

          .         .         .         .         .         .       g.18581
 ATGGAGCAGCTAGGGGATGCCCGCATCGACCGCCAGGAGAGCAGCCGCCAGCAGCGAAAG       c.1500
 M  E  Q  L  G  D  A  R  I  D  R  Q  E  S  S  R  Q  Q  R  K         p.500

          .         .         .         .      | 10  .         .    g.21745
 GCAGAGATAATGGAAAGCATCAAGCGCCTTTACCCTGGCTCTGTG | TACGGCCGCCTCATT    c.1560
 A  E  I  M  E  S  I  K  R  L  Y  P  G  S  V   | Y  G  R  L  I      p.520

          .         .         .         .         .         .       g.21805
 GACCTATGCCAGCCCACACAAAAGAAGTATCAGATTGCTGTAACCAAGGTTTTGGGCAAG       c.1620
 D  L  C  Q  P  T  Q  K  K  Y  Q  I  A  V  T  K  V  L  G  K         p.540

          .         .         .         .         .         .       g.21865
 AACATGGATGCCATTATTGTGGACTCGGAGAAGACAGGCCGGGACTGTATTCAGTATATC       c.1680
 N  M  D  A  I  I  V  D  S  E  K  T  G  R  D  C  I  Q  Y  I         p.560

          .         .         .         .         .  | 11      .    g.22023
 AAGGAGCAGCGTGGGGAGCCTGAGACCTTCTTGCCTCTTGACTACCTGGAG | GTGAAGCCT    c.1740
 K  E  Q  R  G  E  P  E  T  F  L  P  L  D  Y  L  E   | V  K  P      p.580

          .         .         .         .         .         .       g.22083
 ACAGATGAGAAACTCCGGGAGCTGAAGGGGGCCAAGCTAGTGATTGATGTGATTCGCTAT       c.1800
 T  D  E  K  L  R  E  L  K  G  A  K  L  V  I  D  V  I  R  Y         p.600

          .         .         .         .         .         .       g.22143
 GAGCCACCTCATATCAAAAAGGCCCTGCAGTATGCTTGTGGCAATGCCCTTGTCTGTGAC       c.1860
 E  P  P  H  I  K  K  A  L  Q  Y  A  C  G  N  A  L  V  C  D         p.620

          .         .         .         .         .  | 12      .    g.22304
 AACGTGGAAGATGCCCGCCGCATTGCCTTTGGAGGCCACCAGCGCCACAAG | ACAGTGGCA    c.1920
 N  V  E  D  A  R  R  I  A  F  G  G  H  Q  R  H  K   | T  V  A      p.640

          .         .         .         .         .         .       g.22364
 CTGGATGGAACCCTATTCCAGAAGTCAGGAGTGATCTCTGGTGGGGCCAGTGACCTGAAG       c.1980
 L  D  G  T  L  F  Q  K  S  G  V  I  S  G  G  A  S  D  L  K         p.660

          .         .         .         .         .         .       g.22424
 GCCAAGGCACGGCGCTGGGATGAGAAAGCAGTAGACAAGTTGAAAGAGAAGAAGGAGCGC       c.2040
 A  K  A  R  R  W  D  E  K  A  V  D  K  L  K  E  K  K  E  R         p.680

          .         | 13         .         .         .         .    g.22579
 TTGACAGAGGAGCTGAAA | GAGCAGATGAAGGCAAAACGGAAAGAGGCAGAGCTGCGTCAG    c.2100
 L  T  E  E  L  K   | E  Q  M  K  A  K  R  K  E  A  E  L  R  Q      p.700

          .         .         .         .         .         .       g.22639
 GTGCAGTCTCAGGCCCATGGACTGCAGATGCGGCTCAAGTACTCCCAGAGTGACCTAGAA       c.2160
 V  Q  S  Q  A  H  G  L  Q  M  R  L  K  Y  S  Q  S  D  L  E         p.720

          .         .         .       | 14 .         .         .    g.23817
 CAGACCAAGACACGACATCTAGCCCTGAATCTGCAG | GAAAAATCCAAGCTGGAGAGTGAG    c.2220
 Q  T  K  T  R  H  L  A  L  N  L  Q   | E  K  S  K  L  E  S  E      p.740

          .         .         .         .         .         .       g.23877
 CTAGCCAACTTTGGGCCTCGCATTAATGATATCAAGAGGATCATTCAGAGCCGAGAGAGG       c.2280
 L  A  N  F  G  P  R  I  N  D  I  K  R  I  I  Q  S  R  E  R         p.760

          .         .         .    | 15    .         .         .    g.24041
 GAAATGAAAGACTTGAAGGAGAAGATGAACCAG | GTAGAGGATGAGGTGTTTGAAGAGTTT    c.2340
 E  M  K  D  L  K  E  K  M  N  Q   | V  E  D  E  V  F  E  E  F      p.780

          .         .         .         .         .         .       g.24101
 TGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAACGGCAG       c.2400
 C  R  E  I  G  V  R  N  I  R  E  F  E  E  E  K  V  K  R  Q         p.800

          .         . | 16       .         .         .         .    g.28006
 AATGAAATCGCCAAGAAGCG | TTTGGAGTTTGAGAATCAGAAGACTCGCTTGGGCATTCAG    c.2460
 N  E  I  A  K  K  R  |  L  E  F  E  N  Q  K  T  R  L  G  I  Q      p.820

          .         .         .         .         .         .       g.28066
 TTGGATTTTGAAAAGAACCAACTGAAGGAGGACCAAGATAAAGTACACATGTGGGAGCAG       c.2520
 L  D  F  E  K  N  Q  L  K  E  D  Q  D  K  V  H  M  W  E  Q         p.840

          .         .         .         .   | 17     .         .    g.31099
 ACAGTGAAAAAAGATGAAAATGAGATAGAAAAGCTCAAAAAG | GAGGAACAAAGACACATG    c.2580
 T  V  K  K  D  E  N  E  I  E  K  L  K  K   | E  E  Q  R  H  M      p.860

          .         .         .         .         .         .       g.31159
 AAGATCATAGATGAGACCATGGCTCAGCTACAAGACCTGAAGAATCAGCATCTGGCCAAG       c.2640
 K  I  I  D  E  T  M  A  Q  L  Q  D  L  K  N  Q  H  L  A  K         p.880

          .         .         .         .         .         .       g.31219
 AAGTCGGAAGTGAATGACAAGAATCATGAGATGGAGGAGATTCGTAAGAAACTCGGGGGC       c.2700
 K  S  E  V  N  D  K  N  H  E  M  E  E  I  R  K  K  L  G  G         p.900

          | 18         .         .         .         .         .    g.31370
 GCCAACAA | GGAAATGACCCATTTACAGAAGGAGGTGACAGCCATTGAGACCAAGCTTGAA    c.2760
 A  N  K  |  E  M  T  H  L  Q  K  E  V  T  A  I  E  T  K  L  E      p.920

          .         .         .         .         .         .       g.31430
 CAGAAGCGCAGTGACCGTCACAACTTGCTACAGGCCTGTAAGATGCAGGACATTAAGTTG       c.2820
 Q  K  R  S  D  R  H  N  L  L  Q  A  C  K  M  Q  D  I  K  L         p.940

          .         .         .         .   | 19     .         .    g.32828
 CCACTGTCAAAAGGCACCATGGATGATATTAGTCAGGAAGAG | GGTAGCTCCCAGGGGGAG    c.2880
 P  L  S  K  G  T  M  D  D  I  S  Q  E  E   | G  S  S  Q  G  E      p.960

          .         .         .         .         .         .       g.32888
 GACTCAGTGAGTGGTTCACAGAGAATTTCCAGTATCTATGCACGAGAGGCCCTCATTGAG       c.2940
 D  S  V  S  G  S  Q  R  I  S  S  I  Y  A  R  E  A  L  I  E         p.980

          .         .         .    | 20    .         .         .    g.44471
 ATTGACTACGGTGATCTGTGTGAGGATCTGAAG | GATGCCCAGGCTGAGGAAGAGATCAAG    c.3000
 I  D  Y  G  D  L  C  E  D  L  K   | D  A  Q  A  E  E  E  I  K      p.1000

          .         .         .         .         .         .       g.44531
 CAAGAGATGAACACACTGCAGCAGAAGCTGAATGAGCAGCAGAGTGTGCTTCAGCGTATT       c.3060
 Q  E  M  N  T  L  Q  Q  K  L  N  E  Q  Q  S  V  L  Q  R  I         p.1020

          .         .         .         .         .         .       g.44591
 GCCGCCCCCAACATGAAGGCCATGGAAAAGCTGGAAAGTGTCCGAGACAAGTTCCAGGAG       c.3120
 A  A  P  N  M  K  A  M  E  K  L  E  S  V  R  D  K  F  Q  E         p.1040

          . | 21       .         .         .         .         .    g.45087
 ACCTCAGATG | AGTTTGAAGCAGCCCGAAAGCGAGCAAAGAAGGCCAAGCAGGCATTCGAA    c.3180
 T  S  D  E |   F  E  A  A  R  K  R  A  K  K  A  K  Q  A  F  E      p.1060

          .         .         .         .         .         .       g.45147
 CAGATCAAGAAGGAGCGCTTTGACCGCTTCAATGCTTGTTTTGAATCTGTGGCTACCAAC       c.3240
 Q  I  K  K  E  R  F  D  R  F  N  A  C  F  E  S  V  A  T  N         p.1080

          .         .         .         .      | 22  .         .    g.45329
 ATTGATGAGATCTATAAGGCCCTGTCCCGCAATAGCAGTGCCCAG | GCATTCCTGGGCCCT    c.3300
 I  D  E  I  Y  K  A  L  S  R  N  S  S  A  Q   | A  F  L  G  P      p.1100

          .         .         .         .         .         .       g.45389
 GAGAACCCTGAAGAGCCCTACTTGGATGGCATCAACTACAACTGTGTGGCTCCTGGGAAA       c.3360
 E  N  P  E  E  P  Y  L  D  G  I  N  Y  N  C  V  A  P  G  K         p.1120

          .         .         .         .         .         .       g.45449
 CGCTTCCGGCCTATGGACAACTTGTCAGGCGGGGAGAAGACAGTGGCAGCTCTGGCCCTG       c.3420
 R  F  R  P  M  D  N  L  S  G  G  E  K  T  V  A  A  L  A  L         p.1140

          .        | 23.         .         .         .         .    g.46653
 CTCTTTGCCATCCACAG | CTACAAGCCAGCCCCCTTCTTCGTCCTGGATGAGATTGATGCT    c.3480
 L  F  A  I  H  S  |  Y  K  P  A  P  F  F  V  L  D  E  I  D  A      p.1160

          .         .        | 24.         .         .         .    g.47000
 GCCTTGGATAACACCAACATTGGCAAG | GTGGCAAATTACATCAAGGAGCAGTCGACTTGC    c.3540
 A  L  D  N  T  N  I  G  K   | V  A  N  Y  I  K  E  Q  S  T  C      p.1180

          .         .         .         .         .         .       g.47060
 AACTTCCAGGCCATCGTCATCTCTCTCAAGGAGGAGTTCTACACCAAGGCCGAGAGCCTC       c.3600
 N  F  Q  A  I  V  I  S  L  K  E  E  F  Y  T  K  A  E  S  L         p.1200

          .         | 25         .         .         .         .    g.47553
 ATTGGAGTCTATCCTGAG | CAAGGGGACTGTGTGATCAGCAAAGTCCTGACCTTCGACCTC    c.3660
 I  G  V  Y  P  E   | Q  G  D  C  V  I  S  K  V  L  T  F  D  L      p.1220

          .         .         .         .                           g.47595
 ACCAAGTACCCAGATGCCAACCCCAACCCCAATGAGCAGTAG                         c.3702
 T  K  Y  P  D  A  N  P  N  P  N  E  Q  X                           p.1233

          .         .         .         .         .         .       g.47655
 cagtatttttgccctcccgccctgtctggatccctaagctgtccctctcccaatctctgg       c.*60

          .         .         .         .         .         .       g.47715
 atatttgactcccaaccttccccctacctcctggccctttttggtgtagtcatgggattt       c.*120

          .         .         .         .         .         .       g.47775
 aggcactgctaatcaagcatgaagaggaacagaggtgatgttaggtctggagcaaaaatt       c.*180

          .         .         .         .         .         .       g.47835
 cctgaacgacagggagtattctggcctctgaaaggaggtgctgagctgaacagggccatc       c.*240

          .         .         .         .         .         .       g.47895
 tgttcatcacacacacccccttcctccccctcatcacccataatcgtgggccccttgggc       c.*300

          .         .         .         .         .         .       g.47955
 ctcttgcccactgtgtgtgtgggtatgtatgtgtgtatgtatgtatccgcatgtgtgcat       c.*360

          .         .         .         .         .         .       g.48015
 gtgagtatgtttgcaaaataataaaggatattggagacctgttttagaaggagcctaggc       c.*420

          .         .         .         .         .         .       g.48075
 tgaatttgattccaagagagcttaggatgacagcacccctgagctgggcaaaggtactca       c.*480

          .         .         .         .         .         .       g.48135
 ggacctcataggagtcttaggcagttacctgaaactgccttcattcactcatttgtgtat       c.*540

          .         .         .         .         .         .       g.48195
 tcattcatttatgtattcatcagacacataccgaacaccctctatttgtcaggctctgtg       c.*600

          .         .         .         .         .         .       g.48255
 cttggaatacagagttgaatcagacatgatctctaccctcctagtaaggagatacagtgg       c.*660

          .         .         .         .         .         .       g.48315
 gttcatgaatgactatagttagctgaatgtcatatgtactttgaatttgagaagtgggtg       c.*720

          .         .         .         .         .         .       g.48375
 atcccctctaggcttcctggaggtcacatttaagctagaccttgacaaattggtaggatt       c.*780

          .         .         .         .         .         .       g.48435
 tggtcaggcactaggagtggagcatgagctctggggacagacagttatgggttctggtcc       c.*840

          .         .         .         .         .         .       g.48495
 cactttttatcacttactagttgtttgaccttgggcaagtcatttgaccttctgtgcctc       c.*900

          .         .         .         .         .         .       g.48555
 agtttcctcatctgtaaaatggggctaacaatattacctacctcataggatttaatgatg       c.*960

          .         .         .         .         .         .       g.48615
 tcaagctcctcactggaggccttatcccttcgtggagcccactaggtgccgacccctcag       c.*1020

          .         .         .         .         .         .       g.48675
 aatataaccctcatgcctggacccctgagagcttctgatcccagctattagggacagaag       c.*1080

          .         .         .         .         .         .       g.48735
 aagcctccaaatctggaaggtgctgaatgccctgctgactgggaaagtttcagggcactg       c.*1140

          .         .         .         .         .         .       g.48795
 atggggtctacctggtaagcggagggcctgaggaaacctgtagcttcaatcatgtctggt       c.*1200

          .         .         .         .         .         .       g.48855
 aaccgggtgcctgagccccaatctgggttgtgaggaaataggggagaggtatcctgggcc       c.*1260

          .         .         .         .         .         .       g.48915
 acatcccagcctaacacctgtgaggttcattttaggaactaacctcattagctataagga       c.*1320

          .         .         .         .         .         .       g.48975
 tcatgcagaggcagcaaagccgggtgcgatgagctcagcctttactcattcacatacacc       c.*1380

          .         .         .         .         .         .       g.49035
 atcacactttaattccaatctgtatattgctttttaaaagttaagtccattctaattacc       c.*1440

          .         .         .         .         .         .       g.49095
 caaatatgcatgaattcattctccttttgagaagttagattgttaaagatagtctcattc       c.*1500

          .         .         .         .         .         .       g.49155
 agctaccaaccactccttgatccttcccttcttagtggctgttgtttgttgtacttccgt       c.*1560

          .         .         .         .         .         .       g.49215
 ttagactttgttttaatgcttgtacgtacatatgtgaactcattggaaatattgtgtgtt       c.*1620

          .         .         .         .         .         .       g.49275
 taatgcaaatgatatattgaattgtttagcaatttgttttctttgcttaacgatgttttt       c.*1680

          .         .         .         .         .         .       g.49335
 gagatctgtgcatgttacttaatgtagctcaatccatcttctgtaattgctgtatagatt       c.*1740

          .         .         .         .         .         .       g.49395
 gtcatcatatgattaccacattttacttacgcatttcttttgtgatggacattaagactg       c.*1800

          .         .         .         .         .         .       g.49455
 tttttaggttttgctattacaaaatactacacaggagcatcactatgcctgtgtgaaagt       c.*1860

          .         .         .         .         .         .       g.49515
 atatgtatgaaagtttacctagggttgattcctagaagtggaattgcaaagtcataggat       c.*1920

          .         .         .         .         .         .       g.49575
 atttatatattggtttttaataatacttccaaattgccctcctgtactatttactcagta       c.*1980

          .         .         .         .         .         .       g.49635
 tttttcttgaggttgatctgaggtctaacattgttatcctatatcattttcatcccaagt       c.*2040

          .         .         .         .         .         .       g.49695
 agtgatatctgtgaaatcacaggtttgatgtgtgctaattatgtattcttctaatacata       c.*2100

          .         .         .         .         .         .       g.49755
 ttaaaagacataactatcaaaacaaaataaatttgtctgttttcaaccaaagaagtcacg       c.*2160

          .         .         .         .         .         .       g.49815
 taccactggtggtactgtgtgccataatttggcaaatgctggcctttatggacgagcaca       c.*2220

          .         .         .         .         .         .       g.49875
 attcgggggtcagacctggttcaaattctagctgtagaaacttgtgcaagttacttcacc       c.*2280

          .         .         .         .         .         .       g.49935
 tctgagcctaagtttccacatctgtaaaaggagataataaacacctaccttgcagtagtg       c.*2340

          .         .         .         .         .         .       g.49995
 aagcaaagagaaaattaaatatatatgaagcaatttggctggcatctagatcattcacag       c.*2400

          .         .         .         .         .         .       g.50055
 ccctttaaaggtcacctttgctgttctccccactttacagataaggaaactgaggcccaa       c.*2460

          .         .         .         .         .         .       g.50115
 aaaggtttgaacccaggtcttccaagtcattcaagtgctttctccactgtacaggtggtt       c.*2520

          .         .         .         .         .         .       g.50175
 atcaaccttggctgcgcatcagaatcgtttgtaaagctttttctttttcctttttaaaaa       c.*2580

          .         .         .         .         .         .       g.50235
 gtaaagcaatatatacacaggtaaaaaaataaaatagtacagaagggcttataatgagaa       c.*2640

          .         .         .         .         .         .       g.50295
 gcagcagttccctgcttgcacccccacatccaaaggatgtggagctctttaaaaataaat       c.*2700

          .         .         .         .         .         .       g.50355
 tgctctggtcccacctctggaaatctgattcagccagcatggataataacccagataact       c.*2760

          .         .         .         .         .         .       g.50415
 aacccctacctcacaggataaaaaggattacatgagatgccttaggctaaggccctggca       c.*2820

          .         .         .         .         .         .       g.50475
 cacaggaacacatgtgctacaaaggagctttggggacttaagtcctgaggatccaggagg       c.*2880

          .         .         .         .         .         .       g.50535
 tgaggtgacttgtccaagattccactggtttagtggcagagcctagacttccactcggat       c.*2940

          .         .         .         .         .         .       g.50595
 ctatttagtgcttgccccctgctctctcctgtcgtgccccaccacctcctggcatcacag       c.*3000

          .         .         .         .         .         .       g.50655
 ggcaaccgttgtcaaggctatgctcacgggaggctgggcaccacagtgtttccaagagca       c.*3060

          .         .         .         .         .         .       g.50715
 agctggatccgagtagattccctagggcttgttggaggaactagtttgactcccttatac       c.*3120

          .         .         .         .         .         .       g.50775
 tgtggacgcagtagccttgctgtagggagttgaagagtactccacaacagtatcttaagt       c.*3180

          .         .         .         .         .         .       g.50835
 ttaactgggcacttccctctggaaatcacagtgttgtgcaccaggaacacaaagatgagt       c.*3240

          .         .         .         .         .         .       g.50895
 caaatctttatcctgcctttgaggagctcactgtttagttggggaaaccatttgtaaaac       c.*3300

          .         .         .         .         .         .       g.50955
 agccattaaccatacagtgtgatcaacactgacaggagcacaggaaaaacatctagctta       c.*3360

          .         .         .         .         .         .       g.51015
 tgtgaagattcagagaaggcatcctgtagtctaggtggtgatacctgaactgagtcttga       c.*3420

          .         .         .         .         .         .       g.51075
 gggacgggtaggaattagccagttgaggaagtagaaggaatttccagatattggaaacag       c.*3480

          .         .         .         .         .         .       g.51135
 tatgcatgaagacatgaaggcaagaaacagcaaaacaaatactgaagcatgaagattcct       c.*3540

          .         .         .         .         .         .       g.51195
 ggggtggggggaaagcagcaagaaaaggtagagaggaaccagattggaagagggtcgtaa       c.*3600

          .         .         .         .         .         .       g.51255
 atgcatggctacagaattcagatttgttttgtaggacagtgtggttcccaaactggctgt       c.*3660

          .         .         .         .         .         .       g.51315
 ataccacaaacaggtacggcattctgggccccggcccctaaaacattcattaagtctggg       c.*3720

          .         .         .         .         .         .       g.51375
 gtgaagatttggaatcttgaatgcttataaaggttaccacatgactagggtacagccaga       c.*3780

          .         .         .         .         .         .       g.51435
 tttggaaaccatagcttgaaggcagtgagggagccatgaaatggtttttaatagggggac       c.*3840

          .         .         .         .         .         .       g.51495
 tccagatcagatgtgaacttaacctgtttctggctggctagccaaccagcatggaaaaca       c.*3900

          .         .         .         .         .         .       g.51555
 gattaggttagatgttcatgctgtatgtgcccgtgcctgtagcttccctgttaatcagct       c.*3960

          .         .         .         .         .         .       g.51615
 tcttacactactatatttgcttattttgtctctgaataagctttaggcaccacaagggtg       c.*4020

          .         .         .         .         .         .       g.51675
 ggcctggggatattttgcttaccagtatagcccctgcaaaaaagcacagtgcctgacaca       c.*4080

          .         .         .         .         .         .       g.51735
 aaacaggcacccagtaaagtttttgaatgaatgaatgcatgagtgaatccatttgtgaga       c.*4140

          .         .         .         .         .         .       g.51795
 gagcgaatggagatgacaagattagctaggagactggaaaaagaccaggaggcctgcact       c.*4200

          .         .         .         .         .         .       g.51855
 agggcaaaggccagtaggaatagattggaggtgttaaggtgtgaactgttaaggtaagat       c.*4260

          .         .         .         .         .         .       g.51915
 gataacttaatgactgattattggatgtggagggtgactgagaggatagaatgagtaccc       c.*4320

          .         .         .         .         .         .       g.51975
 atgaatagccatgattcctaccctgtcccagtcatctctttccttatccatctctgaaac       c.*4380

          .         .         .         .         .         .       g.52035
 aatctgcttacatcctcctcagcaactggaattcctcaagttagttagacattctgtgtg       c.*4440

          .         .         .         .         .         .       g.52095
 ctgtgtggtctctcactgcccccccactccccacccctccacaagccattgattcattca       c.*4500

          .         .         .         .         .         .       g.52155
 tccagttcaataaatcttggctaagcacctccagtgtgcagtaaggctcttccaagccag       c.*4560

          .         .         .         .         .         .       g.52215
 gactctgactccctctttcctacctcaagagatgtttttgagggctttcccaggtaagag       c.*4620

          .         .         .         .         .         .       g.52275
 tcacatctcttatacaataacttatagtgagatacccagaatgtcagacttgtaagggaa       c.*4680

          .         .         .         .         .         .       g.52335
 gactgcccaaaccccttctgaggtcctcagaggggaattaacttcctaaggtccgactgc       c.*4740

          .         .         .         .         .         .       g.52395
 taggaagtgttggagccagaaatggaacctaggtttcctttctatgtcatctctggagtc       c.*4800

          .         .         .         .         .         .       g.52455
 ttgatcttgatctatcccattgtagatcaggacaggcagaggtggtcagggagaaggtgg       c.*4860

          .         .         .         .         .         .       g.52515
 gacttaggttgaaccttgaaggtcaatgtattggacaggtcaaacaagatggttgccaat       c.*4920

          .         .         .         .         .         .       g.52575
 tacactgcccccttctggaaacccttagcaaacctgccatgcttgcagtcccttctaagg       c.*4980

          .         .         .         .         .         .       g.52635
 ggtttccttagcataagttgccatgctctgtaccatgtgacctcacaatcctggccacag       c.*5040

          .         .         .         .         .         .       g.52695
 atagctagatgtggatagtgtctggttcaagggcaaccaatctctaggctggccagtggc       c.*5100

          .         .         .         .         .         .       g.52755
 ctgttagctggactggcataaggacttcaccttacaggggtggcatgtatcaaatggcaa       c.*5160

          .         .         .         .         .         .       g.52815
 atgtatgaaacaaccagatctttcagggaggcagaatgtgagctattcagaagaagtgaa       c.*5220

          .         .         .         .         .         .       g.52875
 cgttaattagaatttaatgaggcattagtggtggtggatgaggggtggccagaaactaaa       c.*5280

          .         .         .         .         .         .       g.52935
 cagcaaaagcaaagagaaagctgcagaaaccataagtaagcagaggtcatgagacatttg       c.*5340

          .         .         .         .         .         .       g.52995
 tataatgagatcacggagccacagggtggcagaagccatgaagcagcaaggcaacaatgg       c.*5400

          .         .         .         .         .         .       g.53055
 gctagaagccatgaagcaataggagccacgaggaacagaaaccgtgagacaaaactgact       c.*5460

          .         .         .         .         .         .       g.53115
 atgagatccacaaagcagcagaaggcttgaatagataagatcatgagacagtagaagcga       c.*5520

          .         .         .         .         .         .       g.53175
 tgagactgcaagaaccacaaggtagccagaaccatgtggcaacatggcaacaggaatgga       c.*5580

          .         .         .         .         .         .       g.53235
 agaggcagcaggagctacaatgcagaaaagccatggattaataggaactgaagcgccggg       c.*5640

          .         .         .         .         .         .       g.53295
 agccatgaagctgcaggacccatgaggcagaaaaagccatgggctagcatcgaggggggc       c.*5700

          .         .         .         .         .         .       g.53355
 agaaagaagttagtcagtagcagtaggaggagtataaatacagccagaaaggagttgagt       c.*5760

          .         .         .         .         .         .       g.53415
 caccaatttgggaagcactagagaagggagcaacagatgcctgcagctgagggggtgaca       c.*5820

          .         .         .         .         .         .       g.53475
 agataagccaggctctagagctgctttggatcatgaaccattttcaagtttctgttcttc       c.*5880

          .         .         .         .         .         .       g.53535
 catgaggctgcctgtgtagctgttcttgtcttccttatttccctgtgaatgctttaataa       c.*5940

          .                                                         g.53549
 atccccatcactaa                                                     c.*5954

 (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 Structural maintenance of chromosomes 1A 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.

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