calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A) - coding DNA reference sequence

(used for variant description)

(last modified May 31, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_023035.2 in the CACNA1A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011569.1, covering CACNA1A transcript NM_023035.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5056
     gatgtcccgagctgctatccccggctcggcccgggcagccgccttctgagcccccg       c.-181

 .         .         .         .         .         .                g.5116
 acccgaggcgccgagccgccgccgcccgatgggctgggccgtggagcgtctccgcagtcg       c.-121

 .         .         .         .         .         .                g.5176
 tagctccagccgccgcgctcccagccccggcagcctcagcatcagcggcggcggcggcgg       c.-61

 .         .         .         .         .         .                g.5236
 cggcggcgtcttccgcatcgttcgccgcagcgtaacccggagccctttgctctttgcaga       c.-1

          .         .         .         .         .         .       g.5296
 ATGGCCCGCTTCGGAGACGAGATGCCGGCCCGCTACGGGGGAGGAGGCTCCGGGGCAGCC       c.60
 M  A  R  F  G  D  E  M  P  A  R  Y  G  G  G  G  S  G  A  A         p.20

          .         .         .         .         .         .       g.5356
 GCCGGGGTGGTCGTGGGCAGCGGAGGCGGGCGAGGAGCCGGGGGCAGCCGGCAGGGCGGG       c.120
 A  G  V  V  V  G  S  G  G  G  R  G  A  G  G  S  R  Q  G  G         p.40

          .         .         .         .         .         .       g.5416
 CAGCCCGGGGCGCAAAGGATGTACAAGCAGTCAATGGCGCAGAGAGCGCGGACCATGGCA       c.180
 Q  P  G  A  Q  R  M  Y  K  Q  S  M  A  Q  R  A  R  T  M  A         p.60

          .         .         .         .         .         .       g.5476
 CTCTACAACCCCATCCCCGTCCGACAGAACTGCCTCACGGTTAACCGGTCTCTCTTCCTC       c.240
 L  Y  N  P  I  P  V  R  Q  N  C  L  T  V  N  R  S  L  F  L         p.80

          .         .         .         .         .    | 02    .    g.56255
 TTCAGCGAAGACAACGTGGTGAGAAAATACGCCAAAAAGATCACCGAATGGCC | TCCCTTT    c.300
 F  S  E  D  N  V  V  R  K  Y  A  K  K  I  T  E  W  P  |  P  F      p.100

          .         .         .         .         .         .       g.56315
 GAATATATGATTTTAGCCACCATCATAGCGAATTGCATCGTCCTCGCACTGGAGCAGCAT       c.360
 E  Y  M  I  L  A  T  I  I  A  N  C  I  V  L  A  L  E  Q  H         p.120

          .         .         .          | 03        .         .    g.58466
 CTGCCTGATGATGACAAGACCCCGATGTCTGAACGGCTG | GATGACACAGAACCATACTTC    c.420
 L  P  D  D  D  K  T  P  M  S  E  R  L   | D  D  T  E  P  Y  F      p.140

          .         .         .         .         .         .       g.58526
 ATTGGAATTTTTTGTTTCGAGGCTGGAATTAAAATCATTGCCCTTGGGTTTGCCTTCCAC       c.480
 I  G  I  F  C  F  E  A  G  I  K  I  I  A  L  G  F  A  F  H         p.160

          .         .         .         .         .          | 04    g.139682
 AAAGGCTCCTACTTGAGGAATGGCTGGAATGTCATGGACTTTGTGGTGGTGCTAACGGG | C    c.540
 K  G  S  Y  L  R  N  G  W  N  V  M  D  F  V  V  V  L  T  G  |      p.180

          .         .         .         .         .         .       g.139742
 ATCTTGGCGACAGTTGGGACGGAGTTTGACCTACGGACGCTGAGGGCAGTTCGAGTGCTG       c.600
 I  L  A  T  V  G  T  E  F  D  L  R  T  L  R  A  V  R  V  L         p.200

          .         .         .  | 05      .         .         .    g.146020
 CGGCCGCTCAAGCTGGTGTCTGGAATCCCAA | GTTTACAAGTCGTCCTGAAGTCGATCATG    c.660
 R  P  L  K  L  V  S  G  I  P  S |   L  Q  V  V  L  K  S  I  M      p.220

          .         .         .         .         .         .       g.146080
 AAGGCGATGATCCCTTTGCTGCAGATCGGCCTCCTCCTATTTTTTGCAATCCTTATTTTT       c.720
 K  A  M  I  P  L  L  Q  I  G  L  L  L  F  F  A  I  L  I  F         p.240

          .         .         .         .         .         .       g.146140
 GCAATCATAGGGTTAGAATTTTATATGGGAAAATTTCATACCACCTGCTTTGAAGAGGGG       c.780
 A  I  I  G  L  E  F  Y  M  G  K  F  H  T  T  C  F  E  E  G         p.260

      | 06   .         .         .         .         .         .    g.151717
 ACAG | ATGACATTCAGGGTGAGTCTCCGGCTCCATGTGGGACAGAAGAGCCCGCCCGCACC    c.840
 T  D |   D  I  Q  G  E  S  P  A  P  C  G  T  E  E  P  A  R  T      p.280

          .         .         .         .         .         .       g.151777
 TGCCCCAATGGGACCAAATGTCAGCCCTACTGGGAAGGGCCCAACAACGGGATCACTCAG       c.900
 C  P  N  G  T  K  C  Q  P  Y  W  E  G  P  N  N  G  I  T  Q         p.300

          .         .         .         .         .         .       g.151837
 TTCGACAACATCCTGTTTGCAGTGCTGACTGTTTTCCAGTGCATAACCATGGAAGGGTGG       c.960
 F  D  N  I  L  F  A  V  L  T  V  F  Q  C  I  T  M  E  G  W         p.320

          .         | 07         .         .         .         .    g.175593
 ACTGATCTCCTCTACAAT | AGCAACGATGCCTCAGGGAACACTTGGAACTGGTTGTACTTC    c.1020
 T  D  L  L  Y  N   | S  N  D  A  S  G  N  T  W  N  W  L  Y  F      p.340

          .         .         .         .         .         .       g.175653
 ATCCCCCTCATCATCATCGGCTCCTTTTTTATGCTGAACCTTGTGCTGGGTGTGCTGTCA       c.1080
 I  P  L  I  I  I  G  S  F  F  M  L  N  L  V  L  G  V  L  S         p.360

    | 08     .         .         .         .         .         .    g.177025
 GG | GGAGTTTGCCAAAGAAAGGGAACGGGTGGAGAACCGGCGGGCTTTTCTGAAGCTGAGG    c.1140
 G  |  E  F  A  K  E  R  E  R  V  E  N  R  R  A  F  L  K  L  R      p.380

          .         .         .         .         .         | 09    g.178537
 CGGCAACAACAGATTGAACGTGAGCTCAATGGGTACATGGAGTGGATCTCAAAAGCAG | AA    c.1200
 R  Q  Q  Q  I  E  R  E  L  N  G  Y  M  E  W  I  S  K  A  E |       p.400

          .         .         .         .         .      | 10  .    g.181129
 GAGGTGATCCTCGCCGAGGATGAAACTGACGGGGAGCAGAGGCATCCCTTTGATG | GAGCT    c.1260
 E  V  I  L  A  E  D  E  T  D  G  E  Q  R  H  P  F  D  G |   A      p.420

          .         .         .         .         .         .       g.181189
 CTGCGGAGAACCACCATAAAGAAAAGCAAGACAGATTTGCTCAACCCCGAAGAGGCTGAG       c.1320
 L  R  R  T  T  I  K  K  S  K  T  D  L  L  N  P  E  E  A  E         p.440

          .         .         | 11         .         .         .    g.194171
 GATCAGCTGGCTGATATAGCCTCTGTGG | GTTCTCCCTTCGCCCGAGCCAGCATTAAAAGT    c.1380
 D  Q  L  A  D  I  A  S  V  G |   S  P  F  A  R  A  S  I  K  S      p.460

          .         .         .         .         .         .       g.194231
 GCCAAGCTGGAGAACTCGACCTTTTTTCACAAAAAGGAGAGGAGGATGCGTTTCTACATC       c.1440
 A  K  L  E  N  S  T  F  F  H  K  K  E  R  R  M  R  F  Y  I         p.480

          .         .         .         .         .         .       g.194291
 CGCCGCATGGTCAAAACTCAGGCCTTCTACTGGACTGTACTCAGTTTGGTAGCTCTCAAC       c.1500
 R  R  M  V  K  T  Q  A  F  Y  W  T  V  L  S  L  V  A  L  N         p.500

          .         .         .         .         .         | 12    g.198681
 ACGCTGTGTGTTGCTATTGTTCACTACAACCAGCCCGAGTGGCTCTCCGACTTCCTTT | AC    c.1560
 T  L  C  V  A  I  V  H  Y  N  Q  P  E  W  L  S  D  F  L  Y |       p.520

          .         .         .         .         .         .       g.198741
 TATGCAGAATTCATTTTCTTAGGACTCTTTATGTCCGAAATGTTTATAAAAATGTACGGG       c.1620
 Y  A  E  F  I  F  L  G  L  F  M  S  E  M  F  I  K  M  Y  G         p.540

          .         .         .         .         .  | 13      .    g.202941
 CTTGGGACGCGGCCTTACTTCCACTCTTCCTTCAACTGCTTTGACTGTGGG | GTTATCATT    c.1680
 L  G  T  R  P  Y  F  H  S  S  F  N  C  F  D  C  G   | V  I  I      p.560

          .         .         .         .         .         .       g.203001
 GGGAGCATCTTCGAGGTCATCTGGGCTGTCATAAAACCTGGCACATCCTTTGGAATCAGC       c.1740
 G  S  I  F  E  V  I  W  A  V  I  K  P  G  T  S  F  G  I  S         p.580

          .         .         .         .     | 14   .         .    g.203225
 GTGTTACGAGCCCTCAGGTTATTGCGTATTTTCAAAGTCACAAA | GTACTGGGCATCTCTC    c.1800
 V  L  R  A  L  R  L  L  R  I  F  K  V  T  K  |  Y  W  A  S  L      p.600

          .         .         .         .         .         .       g.203285
 AGAAACCTGGTCGTCTCTCTCCTCAACTCCATGAAGTCCATCATCAGCCTGTTGTTTCTC       c.1860
 R  N  L  V  V  S  L  L  N  S  M  K  S  I  I  S  L  L  F  L         p.620

          .         .         .         .         .       | 15 .    g.203610
 CTTTTCCTGTTCATTGTCGTCTTCGCCCTTTTGGGAATGCAACTCTTCGGCGGCCA | GTTT    c.1920
 L  F  L  F  I  V  V  F  A  L  L  G  M  Q  L  F  G  G  Q  |  F      p.640

          .         .         .         .         .         .       g.203670
 AATTTCGATGAAGGGACTCCTCCCACCAACTTCGATACTTTTCCAGCAGCAATAATGACG       c.1980
 N  F  D  E  G  T  P  P  T  N  F  D  T  F  P  A  A  I  M  T         p.660

           | 16        .         .         .         .         .    g.207627
 GTGTTTCAG | ATCCTGACGGGCGAAGACTGGAACGAGGTCATGTACGACGGGATCAAGTCT    c.2040
 V  F  Q   | I  L  T  G  E  D  W  N  E  V  M  Y  D  G  I  K  S      p.680

          .         .         .         .         .         .       g.207687
 CAGGGGGGCGTGCAGGGCGGCATGGTGTTCTCCATCTATTTCATTGTACTGACGCTCTTT       c.2100
 Q  G  G  V  Q  G  G  M  V  F  S  I  Y  F  I  V  L  T  L  F         p.700

         | 17.         .         .         .         .         .    g.207900
 GGGAACT | ACACCCTCCTGAATGTGTTCTTGGCCATCGCTGTGGACAATCTGGCCAACGCC    c.2160
 G  N  Y |   T  L  L  N  V  F  L  A  I  A  V  D  N  L  A  N  A      p.720

          .         .     | 18   .         .         .         .    g.210840
 CAGGAGCTCACCAAGGTGGAGGCG | GACGAGCAAGAGGAAGAAGAAGCAGCGAACCAGAAA    c.2220
 Q  E  L  T  K  V  E  A   | D  E  Q  E  E  E  E  A  A  N  Q  K      p.740

          .         .         .         .         .         .       g.210900
 CTTGCCCTACAGAAAGCCAAGGAGGTGGCAGAAGTGAGTCCTCTGTCCGCGGCCAACATG       c.2280
 L  A  L  Q  K  A  K  E  V  A  E  V  S  P  L  S  A  A  N  M         p.760

          .  | 19      .         .         .         .         .    g.212156
 TCTATAGCTGT | GAAAGAGCAACAGAAGAATCAAAAGCCAGCCAAGTCCGTGTGGGAGCAG    c.2340
 S  I  A  V  |  K  E  Q  Q  K  N  Q  K  P  A  K  S  V  W  E  Q      p.780

          .         .         .         .         .         .       g.212216
 CGGACCAGTGAGATGCGAAAGCAGAACTTGCTGGCCAGCCGGGAGGCCCTGTATAACGAA       c.2400
 R  T  S  E  M  R  K  Q  N  L  L  A  S  R  E  A  L  Y  N  E         p.800

          .         .         .         .         .         .       g.212276
 ATGGACCCGGACGAGCGCTGGAAGGCTGCCTACACGCGGCACCTGCGGCCAGACATGAAG       c.2460
 M  D  P  D  E  R  W  K  A  A  Y  T  R  H  L  R  P  D  M  K         p.820

          .         .         .         .         .         .       g.212336
 ACGCACTTGGACCGGCCGCTGGTGGTGGACCCGCAGGAGAACCGCAACAACAACACCAAC       c.2520
 T  H  L  D  R  P  L  V  V  D  P  Q  E  N  R  N  N  N  T  N         p.840

          .         .         .         .         .         .       g.212396
 AAGAGCCGGGCGGCCGAGCCCACCGTGGACCAGCGCCTCGGCCAGCAGCGCGCCGAGGAC       c.2580
 K  S  R  A  A  E  P  T  V  D  Q  R  L  G  Q  Q  R  A  E  D         p.860

          .         .         .         .         .         .       g.212456
 TTCCTCAGGAAACAGGCCCGCTACCACGATCGGGCCCGGGACCCCAGCGGCTCGGCGGGC       c.2640
 F  L  R  K  Q  A  R  Y  H  D  R  A  R  D  P  S  G  S  A  G         p.880

          .         .         .         .         .         .       g.212516
 CTGGACGCACGGAGGCCCTGGGCGGGAAGCCAGGAGGCCGAGCTGAGCCGGGAGGGACCC       c.2700
 L  D  A  R  R  P  W  A  G  S  Q  E  A  E  L  S  R  E  G  P         p.900

          .         .         .         .         .         .       g.212576
 TACGGCCGCGAGTCGGACCACCACGCCCGGGAGGGCAGCCTGGAGCAACCCGGGTTCTGG       c.2760
 Y  G  R  E  S  D  H  H  A  R  E  G  S  L  E  Q  P  G  F  W         p.920

          .         .         .         .         .         .       g.212636
 GAGGGCGAGGCCGAGCGAGGCAAGGCCGGGGACCCCCACCGGAGGCACGTGCACCGGCAG       c.2820
 E  G  E  A  E  R  G  K  A  G  D  P  H  R  R  H  V  H  R  Q         p.940

          .         .         .         .         .         .       g.212696
 GGGGGCAGCAGGGAGAGCCGCAGCGGGTCCCCGCGCACGGGCGCGGACGGGGAGCATCGA       c.2880
 G  G  S  R  E  S  R  S  G  S  P  R  T  G  A  D  G  E  H  R         p.960

          .         .         .         .         .         .       g.212756
 CGTCATCGCGCGCACCGCAGGCCCGGGGAGGAGGGTCCGGAGGACAAGGCGGAGCGGAGG       c.2940
 R  H  R  A  H  R  R  P  G  E  E  G  P  E  D  K  A  E  R  R         p.980

          .         .         .         .         .         .       g.212816
 GCGCGGCACCGCGAGGGCAGCCGGCCGGCCCGGGGCGGCGAGGGCGAGGGCGAGGGCCCC       c.3000
 A  R  H  R  E  G  S  R  P  A  R  G  G  E  G  E  G  E  G  P         p.1000

          .         .         .         .         .         .       g.212876
 GACGGGGGCGAGCGCAGGAGAAGGCACCGGCATGGCGCTCCAGCCACGTACGAGGGGGAC       c.3060
 D  G  G  E  R  R  R  R  H  R  H  G  A  P  A  T  Y  E  G  D         p.1020

          .         .         .         .  | 20      .         .    g.224513
 GCGCGGAGGGAGGACAAGGAGCGGAGGCATCGGAGGAGGAA | AGAGAACCAGGGCTCCGGG    c.3120
 A  R  R  E  D  K  E  R  R  H  R  R  R  K  |  E  N  Q  G  S  G      p.1040

          .         .         .         .         .         .       g.224573
 GTCCCTGTGTCGGGCCCCAACCTGTCAACCACCCGGCCAATCCAGCAGGACCTGGGCCGC       c.3180
 V  P  V  S  G  P  N  L  S  T  T  R  P  I  Q  Q  D  L  G  R         p.1060

          .         .         .         .         .         .       g.224633
 CAAGACCCACCCCTGGCAGAGGATATTGACAACATGAAGAACAACAAGCTGGCCACCGCG       c.3240
 Q  D  P  P  L  A  E  D  I  D  N  M  K  N  N  K  L  A  T  A         p.1080

          .         .         .         .         .         .       g.224693
 GAGTCGGCCGCTCCCCACGGCAGCCTTGGCCACGCCGGCCTGCCCCAGAGCCCAGCCAAG       c.3300
 E  S  A  A  P  H  G  S  L  G  H  A  G  L  P  Q  S  P  A  K         p.1100

          .         .         .         .         .         .       g.224753
 ATGGGAAACAGCACCGACCCCGGCCCCATGCTGGCCATCCCTGCCATGGCCACCAACCCC       c.3360
 M  G  N  S  T  D  P  G  P  M  L  A  I  P  A  M  A  T  N  P         p.1120

          .         .         .         .         .         .       g.224813
 CAGAACGCCGCCAGCCGCCGGACGCCCAACAACCCGGGGAACCCATCCAATCCCGGCCCC       c.3420
 Q  N  A  A  S  R  R  T  P  N  N  P  G  N  P  S  N  P  G  P         p.1140

          .         .         .         .         .         .       g.224873
 CCCAAGACCCCCGAGAATAGCCTTATCGTCACCAACCCCAGCGGCACCCAGACCAATTCA       c.3480
 P  K  T  P  E  N  S  L  I  V  T  N  P  S  G  T  Q  T  N  S         p.1160

          .         .         .         .         .         .       g.224933
 GCTAAGACTGCCAGGAAACCCGACCACACCACAGTGGACATCCCCCCAGCCTGCCCACCC       c.3540
 A  K  T  A  R  K  P  D  H  T  T  V  D  I  P  P  A  C  P  P         p.1180

          .         .      | 21  .         .         .         .    g.226289
 CCCCTCAACCACACCGTCGTACAAG | TGAACAAAAACGCCAACCCAGACCCACTGCCAAAA    c.3600
 P  L  N  H  T  V  V  Q  V |   N  K  N  A  N  P  D  P  L  P  K      p.1200

          .         .         .         .         .         .       g.226349
 AAAGAGGAAGAGAAGAAGGAGGAGGAGGAAGACGACCGTGGGGAAGACGGCCCTAAGCCA       c.3660
 K  E  E  E  K  K  E  E  E  E  D  D  R  G  E  D  G  P  K  P         p.1220

          .         .         .         .     | 22   .         .    g.228080
 ATGCCTCCCTATAGCTCCATGTTCATCCTGTCCACGACCAACCC | CCTTCGCCGCCTGTGC    c.3720
 M  P  P  Y  S  S  M  F  I  L  S  T  T  N  P  |  L  R  R  L  C      p.1240

          .         .         .         .         .         .       g.228140
 CATTACATCCTGAACCTGCGCTACTTTGAGATGTGCATCCTCATGGTCATTGCCATGAGC       c.3780
 H  Y  I  L  N  L  R  Y  F  E  M  C  I  L  M  V  I  A  M  S         p.1260

          .         .         .         .         .     | 23   .    g.234338
 AGCATCGCCCTGGCCGCCGAGGACCCTGTGCAGCCCAACGCACCTCGGAACAAC | GTGCTG    c.3840
 S  I  A  L  A  A  E  D  P  V  Q  P  N  A  P  R  N  N   | V  L      p.1280

          .         .         .         .         .     | 24   .    g.235510
 CGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAG | ATGATT    c.3900
 R  Y  F  D  Y  V  F  T  G  V  F  T  F  E  M  V  I  K   | M  I      p.1300

          .         .         .         .         .         .       g.235570
 GACCTGGGGCTCGTCCTGCATCAGGGTGCCTACTTCCGTGACCTCTGGAATATTCTCGAC       c.3960
 D  L  G  L  V  L  H  Q  G  A  Y  F  R  D  L  W  N  I  L  D         p.1320

          .         .         .         .  | 25      .         .    g.248646
 TTCATAGTGGTCAGTGGGGCCCTGGTAGCCTTTGCCTTCAC | TGGCAATAGCAAAGGAAAA    c.4020
 F  I  V  V  S  G  A  L  V  A  F  A  F  T  |  G  N  S  K  G  K      p.1340

          .         .         .         .         .         .       g.248706
 GACATCAACACGATTAAATCCCTCCGAGTCCTCCGGGTGCTACGACCTCTTAAAACCATC       c.4080
 D  I  N  T  I  K  S  L  R  V  L  R  V  L  R  P  L  K  T  I         p.1360

          .         .  | 26      .         .         .         .    g.249889
 AAGCGGCTGCCAAAGCTCAAG | GCTGTGTTTGACTGTGTGGTGAACTCACTTAAAAACGTC    c.4140
 K  R  L  P  K  L  K   | A  V  F  D  C  V  V  N  S  L  K  N  V      p.1380

          .         .         .         .         .         .       g.249949
 TTCAACATCCTCATCGTCTACATGCTATTCATGTTCATCTTCGCCGTGGTGGCTGTGCAG       c.4200
 F  N  I  L  I  V  Y  M  L  F  M  F  I  F  A  V  V  A  V  Q         p.1400

          .         .         .         .         .         .       g.250009
 CTCTTCAAGGGGAAATTCTTCCACTGCACTGACGAGTCCAAAGAGTTTGAGAAAGATTGT       c.4260
 L  F  K  G  K  F  F  H  C  T  D  E  S  K  E  F  E  K  D  C         p.1420

    | 27     .         .         .         .         .         .    g.251817
 CG | AGGCAAATACCTCCTCTACGAGAAGAATGAGGTGAAGGCGCGAGACCGGGAGTGGAAG    c.4320
 R  |  G  K  Y  L  L  Y  E  K  N  E  V  K  A  R  D  R  E  W  K      p.1440

          .         .         .         .         .         .       g.251877
 AAGTATGAATTCCATTACGACAATGTGCTGTGGGCTCTGCTGACCCTCTTCACCGTGTCC       c.4380
 K  Y  E  F  H  Y  D  N  V  L  W  A  L  L  T  L  F  T  V  S         p.1460

          .         . | 28       .         .         .         .    g.253949
 ACGGGAGAAGGCTGGCCACA | GGTCCTCAAGCATTCGGTGGACGCCACCTTTGAGAACCAG    c.4440
 T  G  E  G  W  P  Q  |  V  L  K  H  S  V  D  A  T  F  E  N  Q      p.1480

          .         .         .         .         .         .       g.254009
 GGCCCCAGCCCCGGGTACCGCATGGAGATGTCCATTTTCTACGTCGTCTACTTTGTGGTG       c.4500
 G  P  S  P  G  Y  R  M  E  M  S  I  F  Y  V  V  Y  F  V  V         p.1500

          .         .         .         .         .         .       g.254069
 TTCCCCTTCTTCTTTGTCAATATCTTTGTGGCCTTGATCATCATCACCTTCCAGGAGCAA       c.4560
 F  P  F  F  F  V  N  I  F  V  A  L  I  I  I  T  F  Q  E  Q         p.1520

          .         .         .         .   | 29     .         .    g.256219
 GGGGACAAGATGATGGAGGAATACAGCCTGGAGAAAAATGAG | AGGGCCTGCATTGATTTC    c.4620
 G  D  K  M  M  E  E  Y  S  L  E  K  N  E   | R  A  C  I  D  F      p.1540

          .         .         .         .         .         .       g.256279
 GCCATCAGCGCCAAGCCGCTGACCCGACACATGCCGCAGAACAAGCAGAGCTTCCAGTAC       c.4680
 A  I  S  A  K  P  L  T  R  H  M  P  Q  N  K  Q  S  F  Q  Y         p.1560

          .         .         .         .         .         .       g.256339
 CGCATGTGGCAGTTCGTGGTGTCTCCGCCTTTCGAGTACACGATCATGGCCATGATCGCC       c.4740
 R  M  W  Q  F  V  V  S  P  P  F  E  Y  T  I  M  A  M  I  A         p.1580

          .         .        | 30.         .         .         .    g.258392
 CTCAACACCATCGTGCTTATGATGAAG | TTCTATGGGGCTTCTGTTGCTTATGAAAATGCC    c.4800
 L  N  T  I  V  L  M  M  K   | F  Y  G  A  S  V  A  Y  E  N  A      p.1600

          .         .         .         .         .         .       g.258452
 CTGCGGGTGTTCAACATCGTCTTCACCTCCCTCTTCTCTCTGGAATGTGTGCTGAAAGTC       c.4860
 L  R  V  F  N  I  V  F  T  S  L  F  S  L  E  C  V  L  K  V         p.1620

          .         | 31         .         .         .         .    g.266237
 ATGGCTTTTGGGATTCTG | AATTATTTCCGCGATGCCTGGAACATCTTCGACTTTGTGACT    c.4920
 M  A  F  G  I  L   | N  Y  F  R  D  A  W  N  I  F  D  F  V  T      p.1640

          .         .         .         .   | 32     | 33         . g.275742
 GTTCTGGGCAGCATCACCGATATCCTCGTGACTGAGTTTGGG | AATCCG | AATAACTTCATC c.4980
 V  L  G  S  I  T  D  I  L  V  T  E  F  G   | N  P   | N  N  F  I   p.1660

          .         .         .         .         .         .       g.275802
 AACCTGAGCTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACTTCTCCGTCAGGGT       c.5040
 N  L  S  F  L  R  L  F  R  A  A  R  L  I  K  L  L  R  Q  G         p.1680

          .         .         .         .      | 34  .         .    g.276201
 TACACCATCCGCATTCTTCTCTGGACCTTTGTGCAGTCCTTCAAG | GCCCTGCCTTATGTC    c.5100
 Y  T  I  R  I  L  L  W  T  F  V  Q  S  F  K   | A  L  P  Y  V      p.1700

          .         .         .         .         .  | 35      .    g.276433
 TGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAG | GTGTTTGGT    c.5160
 C  L  L  I  A  M  L  F  F  I  Y  A  I  I  G  M  Q   | V  F  G      p.1720

          .         .         .         .         .         .       g.276493
 AACATTGGCATCGACGTGGAGGACGAGGACAGTGATGAAGATGAGTTCCAAATCACTGAG       c.5220
 N  I  G  I  D  V  E  D  E  D  S  D  E  D  E  F  Q  I  T  E         p.1740

          .         .         .         .        | 36.         .    g.279613
 CACAATAACTTCCGGACCTTCTTCCAGGCCCTCATGCTTCTCTTCCG | GAGTGCCACCGGG    c.5280
 H  N  N  F  R  T  F  F  Q  A  L  M  L  L  F  R  |  S  A  T  G      p.1760

          .         .         .         .         .         .       g.279673
 GAAGCTTGGCACAACATCATGCTTTCCTGCCTCAGCGGGAAACCGTGTGATAAGAACTCT       c.5340
 E  A  W  H  N  I  M  L  S  C  L  S  G  K  P  C  D  K  N  S         p.1780

          .         .         .         .         .         .       g.279733
 GGCATCCTGACTCGAGAGTGTGGCAATGAATTTGCTTATTTTTACTTTGTTTCCTTCATC       c.5400
 G  I  L  T  R  E  C  G  N  E  F  A  Y  F  Y  F  V  S  F  I         p.1800

          .         | 37         .         .         .         .    g.281293
 TTCCTCTGCTCGTTTCTG | ATGCTGAATCTCTTTGTCGCCGTCATCATGGACAACTTTGAG    c.5460
 F  L  C  S  F  L   | M  L  N  L  F  V  A  V  I  M  D  N  F  E      p.1820

          .         .         .         .         .         .       g.281353
 TACCTCACCCGAGACTCCTCCATCCTGGGCCCCCACCACCTGGATGAGTACGTGCGTGTC       c.5520
 Y  L  T  R  D  S  S  I  L  G  P  H  H  L  D  E  Y  V  R  V         p.1840

          .         .       | 38 .         .         .         .    g.283967
 TGGGCCGAGTATGACCCCGCAGCTTG | GGGCCGCATGCCTTACCTGGACATGTATCAGATG    c.5580
 W  A  E  Y  D  P  A  A  W  |  G  R  M  P  Y  L  D  M  Y  Q  M      p.1860

          .         .         .         .         .         .       g.284027
 CTGAGACACATGTCTCCGCCCCTGGGTCTGGGGAAGAAGTGTCCGGCCAGAGTGGCTTAC       c.5640
 L  R  H  M  S  P  P  L  G  L  G  K  K  C  P  A  R  V  A  Y         p.1880

     | 39    .         .         .         .         .         .    g.286745
 AAG | CGGCTTCTGCGGATGGACCTGCCCGTCGCAGATGACAACACCGTCCACTTCAATTCC    c.5700
 K   | R  L  L  R  M  D  L  P  V  A  D  D  N  T  V  H  F  N  S      p.1900

          .         .         .         .          | 40        .    g.296863
 ACCCTCATGGCTCTGATCCGCACAGCCCTGGACATCAAGATTGCCAAGG | GAGGAGCCGAC    c.5760
 T  L  M  A  L  I  R  T  A  L  D  I  K  I  A  K  G |   G  A  D      p.1920

          .         .         .         .         .         .       g.296923
 AAACAGCAGATGGACGCTGAGCTGCGGAAGGAGATGATGGCGATTTGGCCCAATCTGTCC       c.5820
 K  Q  Q  M  D  A  E  L  R  K  E  M  M  A  I  W  P  N  L  S         p.1940

          .         .         .        | 41.         .         .    g.297150
 CAGAAGACGCTAGACCTGCTGGTCACACCTCACAAGT | CCACGGACCTCACCGTGGGGAAG    c.5880
 Q  K  T  L  D  L  L  V  T  P  H  K  S |   T  D  L  T  V  G  K      p.1960

          .         .         .         .         .         .       g.297210
 ATCTACGCAGCCATGATGATCATGGAGTACTACCGGCAGAGCAAGGCCAAGAAGCTGCAG       c.5940
 I  Y  A  A  M  M  I  M  E  Y  Y  R  Q  S  K  A  K  K  L  Q         p.1980

          .         | 42         .         .         .         .    g.298762
 GCCATGCGCGAGGAGCAG | GACCGGACACCCCTCATGTTCCAGCGCATGGAGCCCCCGTCC    c.6000
 A  M  R  E  E  Q   | D  R  T  P  L  M  F  Q  R  M  E  P  P  S      p.2000

          .         .         .         .         .         .       g.298822
 CCAACGCAGGAAGGGGGACCTGGCCAGAACGCCCTCCCCTCCACCCAGCTGGACCCAGGA       c.6060
 P  T  Q  E  G  G  P  G  Q  N  A  L  P  S  T  Q  L  D  P  G         p.2020

          | 43         .         .         .         .         .    g.298990
 GGAGCCCT | GATGGCTCACGAAAGCGGCCTCAAGGAGAGCCCGTCCTGGGTGACCCAGCGT    c.6120
 G  A  L  |  M  A  H  E  S  G  L  K  E  S  P  S  W  V  T  Q  R      p.2040

          .         .         .         .         .         .       g.299050
 GCCCAGGAGATGTTCCAGAAGACGGGCACATGGAGTCCGGAACAAGGCCCCCCTACCGAC       c.6180
 A  Q  E  M  F  Q  K  T  G  T  W  S  P  E  Q  G  P  P  T  D         p.2060

          .         .        | 44.         .         .         .    g.299277
 ATGCCCAACAGCCAGCCTAACTCTCAG | TCCGTGGAGATGCGAGAGATGGGCAGAGATGGC    c.6240
 M  P  N  S  Q  P  N  S  Q   | S  V  E  M  R  E  M  G  R  D  G      p.2080

          .         .         .         .         .         .       g.299337
 TACTCCGACAGCGAGCACTACCTCCCCATGGAAGGCCAGGGCCGGGCTGCCTCCATGCCC       c.6300
 Y  S  D  S  E  H  Y  L  P  M  E  G  Q  G  R  A  A  S  M  P         p.2100

          .         .  | 45      .         .         .        | 46. g.301965
 CGCCTCCCTGCAGAGAACCAG | AGGAGAAGGGGCCGGCCACGTGGGAATAACCTCAGT | ACC c.6360
 R  L  P  A  E  N  Q   | R  R  R  G  R  P  R  G  N  N  L  S   | T   p.2120

          .         .         .         .         .         .       g.302025
 ATCTCAGACACCAGCCCCATGAAGCGTTCAGCCTCCGTGCTGGGCCCCAAGGCCCGACGC       c.6420
 I  S  D  T  S  P  M  K  R  S  A  S  V  L  G  P  K  A  R  R         p.2140

          .         .         .         .         .         .       g.302085
 CTGGACGATTACTCGCTGGAGCGGGTCCCGCCCGAGGAGAACCAGCGGCACCACCAGCGG       c.6480
 L  D  D  Y  S  L  E  R  V  P  P  E  E  N  Q  R  H  H  Q  R         p.2160

          .         .         .         .         .         .       g.302145
 CGCCGCGACCGCAGCCACCGCGCCTCTGAGCGCTCCCTGGGCCGCTACACCGATGTGGAC       c.6540
 R  R  D  R  S  H  R  A  S  E  R  S  L  G  R  Y  T  D  V  D         p.2180

      | 47   .         .         .         .         .         .    g.302507
 ACAG | GCTTGGGGACAGACCTGAGCATGACCACCCAATCCGGGGACCTGCCGTCGAAGGAG    c.6600
 T  G |   L  G  T  D  L  S  M  T  T  Q  S  G  D  L  P  S  K  E      p.2200

          .         .         .         .         .         .       g.302567
 CGGGACCAGGAGCGGGGCCGGCCCAAGGATCGGAAGCATCGACAGCACCACCACCACCAC       c.6660
 R  D  Q  E  R  G  R  P  K  D  R  K  H  R  Q  H  H  H  H  H         p.2220

          .         .         .         .         .         .       g.302627
 CACCACCACCACCATCCCCCGCCCCCCGACAAGGACCGCTATGCCCAGGAACGGCCGGAC       c.6720
 H  H  H  H  H  P  P  P  P  D  K  D  R  Y  A  Q  E  R  P  D         p.2240

          .         .         .         .         .         .       g.302687
 CACGGCCGGGCACGGGCTCGGGACCAGCGCTGGTCCCGCTCGCCCAGCGAGGGCCGAGAG       c.6780
 H  G  R  A  R  A  R  D  Q  R  W  S  R  S  P  S  E  G  R  E         p.2260

          .         | 48         .         .         .         .    g.303449
 CACATGGCGCACCGGCAG | GGCAGTAGTTCCGTAAGTGGAAGCCCAGCCCCCTCAACATCT    c.6840
 H  M  A  H  R  Q   | G  S  S  S  V  S  G  S  P  A  P  S  T  S      p.2280

          .         .         .         .         .         .       g.303509
 GGTACCAGCACTCCGCGGCGGGGCCGCCGCCAGCTCCCCCAGACCCCCTCCACCCCCCGG       c.6900
 G  T  S  T  P  R  R  G  R  R  Q  L  P  Q  T  P  S  T  P  R         p.2300

          .         .         .         .         .         .       g.303569
 CCACACGTGTCCTATTCCCCTGTGATCCGTAAGGCCGGCGGCTCGGGGCCCCCGCAGCAG       c.6960
 P  H  V  S  Y  S  P  V  I  R  K  A  G  G  S  G  P  P  Q  Q         p.2320

          .         .         .         .         .         .       g.303629
 CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGCGGTGGCCAGGCCGGGCCGGGCGGCC       c.7020
 Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  A  V  A  R  P  G  R  A  A         p.2340

          .         .         .         .         .         .       g.303689
 ACCAGCGGCCCTCGGAGGTACCCAGGCCCCACGGCCGAGCCTCTGGCCGGAGATCGGCCG       c.7080
 T  S  G  P  R  R  Y  P  G  P  T  A  E  P  L  A  G  D  R  P         p.2360

          .         .         .         .         .         .       g.303749
 CCCACGGGGGGCCACAGCAGCGGCCGCTCGCCCAGGATGGAGAGGCGGGTCCCAGGCCCG       c.7140
 P  T  G  G  H  S  S  G  R  S  P  R  M  E  R  R  V  P  G  P         p.2380

          .         .         .         .         .         .       g.303809
 GCCCGGAGCGAGTCCCCCAGGGCCTGTCGACACGGCGGGGCCCGGTGGCCGGCATCTGGC       c.7200
 A  R  S  E  S  P  R  A  C  R  H  G  G  A  R  W  P  A  S  G         p.2400

          .         .         .         .         .         .       g.303869
 CCGCACGTGTCCGAGGGGCCCCCGGGTCCCCGGCACCATGGCTACTACCGGGGCTCCGAC       c.7260
 P  H  V  S  E  G  P  P  G  P  R  H  H  G  Y  Y  R  G  S  D         p.2420

          .         .         .         .         .         .       g.303929
 TACGACGAGGCCGATGGCCCGGGCAGCGGGGGCGGCGAGGAGGCCATGGCCGGGGCCTAC       c.7320
 Y  D  E  A  D  G  P  G  S  G  G  G  E  E  A  M  A  G  A  Y         p.2440

          .         .         .         .         .         .       g.303989
 GACGCGCCACCCCCCGTACGACACGCGTCCTCGGGCGCCACCGGGCGCTCGCCCAGGACT       c.7380
 D  A  P  P  P  V  R  H  A  S  S  G  A  T  G  R  S  P  R  T         p.2460

          .         .         .         .         .         .       g.304049
 CCCCGGGCCTCGGGCCCGGCCTGCGCCTCGCCTTCTCGGCACGGCCGGCGACTCCCCAAC       c.7440
 P  R  A  S  G  P  A  C  A  S  P  S  R  H  G  R  R  L  P  N         p.2480

          .         .         .         .         .         .       g.304109
 GGCTACTACCCGGCGCACGGACTGGCCAGGCCCCGCGGGCCGGGCTCCAGGAAGGGCCTG       c.7500
 G  Y  Y  P  A  H  G  L  A  R  P  R  G  P  G  S  R  K  G  L         p.2500

          .         .         .                                     g.304148
 CACGAACCCTACAGCGAGAGTGACGATGATTGGTGCTAA                            c.7539
 H  E  P  Y  S  E  S  D  D  D  W  C  X                              p.2512

          .         .         .         .         .         .       g.304208
 gcccgggcgaggtggcgcccgcccggccccccacgcaccccacgcacacaccccacccga       c.*60

          .         .         .         .         .         .       g.304268
 ggagccgcgcagaggccgcgggggcccagcacagagggcccgggagagggccagccggga       c.*120

          .         .         .         .         .         .       g.304328
 gaccccagactctggagaggccagggctgggccacaagggtgtcccgcagagaccctcgg       c.*180

          .         .         .         .         .         .       g.304388
 ccaaaagagaccctcctgggcagccacggcgccccccaaccagccccgatccccccaccc       c.*240

          .         .         .         .         .         .       g.304448
 acgacaggggctctcgggtgggaggcagggagcagacaaaccacacagccaagggatttg       c.*300

          .         .         .         .         .         .       g.304508
 aattaactcagccatttttggagaactttggggaacatgaaaaaaaaaaaaaaaaaaaaa       c.*360

          .         .         .         .         .         .       g.304568
 aaaaaaaacatttttaaaagaaaaaacggggagaaaaaaatagcttctattgatgagttt       c.*420

          .         .         .         .         .         .       g.304628
 tatcatctcaattgaatctttcctttccctgatgaagacagctggtggccgagtgcggca       c.*480

          .         .         .         .         .         .       g.304688
 aagaagccagaaggaaccagaatcccagtgccctacacccaccaccagacacactcacac       c.*540

          .         .         .         .         .         .       g.304748
 ccacacacgttctcagacacacacaagagtgcttgccggttataccaaaccctactatta       c.*600

          .         .         .         .         .         .       g.304808
 ctgcctgcagaaatcaatttaaaaaaataataataacaataaacaattttaaaaaggaca       c.*660

          .         .         .         .         .         .       g.304868
 aaaaaattaatgattgagaaaagaggcatttttttctgacatttggtcctgcttgaaaca       c.*720

          .         .         .         .         .         .       g.304928
 acaaaagaagaagaaaaacccaccatcaccaccgattcctttgcttcttttttccttttt       c.*780

          .         .         .         .         .         .       g.304988
 tcctaccttgtttgaaaaccgtgggcttgggactgtgaattattgcatgacattcaaaaa       c.*840

          .         .         .                                     g.305019
 gaaaaaaaaaataaaaaaaagttgaatcaaa                                    c.*871

 (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 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 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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