von Willebrand factor A domain containing 1 (VWA1) - coding DNA reference sequence

(used for variant description)

(last modified June 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_022834.4 in the VWA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering VWA1 transcript NM_022834.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5046
               tgtccctgcgtgtcggggtccgctcgtgcgcgcctctccggggtct       c.-181

 .         .         .         .         .         .                g.5106
 gtgcgcgtggccctccgctcgcgccggagggcgtgggcgtggcctcggcgtgggtgtggc       c.-121

 .         .         .         .         .         .                g.5166
 cgctcggggaggggcctcccgggggcggggccggcctggtccgcgcggtgacgcgccctg       c.-61

 .         .         .         .         .         .                g.5226
 cagccccgagcgagcgagcgagcgagcgagttgccgagcgcgccccgtccctcgcgcgcg       c.-1

          .         .         .         .         .         .       g.5286
 ATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGC       c.60
 M  L  P  W  T  A  L  G  L  A  L  S  L  R  L  A  L  A  R  S         p.20

          .    | 02    .         .         .         .         .    g.6451
 GGCGCGGAGCGCG | GTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGAC    c.120
 G  A  E  R  G |   P  P  A  S  A  P  R  G  D  L  M  F  L  L  D      p.40

          .         .         .         .         .         .       g.6511
 AGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTG       c.180
 S  S  A  S  V  S  H  Y  E  F  S  R  V  R  E  F  V  G  Q  L         p.60

          .         .         .         .         .         .       g.6571
 GTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGT       c.240
 V  A  P  L  P  L  G  T  G  A  L  R  A  S  L  V  H  V  G  S         p.80

          .         .         .         .         .         .       g.6631
 CGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCG       c.300
 R  P  Y  T  E  F  P  F  G  Q  H  S  S  G  E  A  A  Q  D  A         p.100

          .         .         .         .         .         .       g.6691
 GTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCC       c.360
 V  R  A  S  A  Q  R  M  G  D  T  H  T  G  L  A  L  V  Y  A         p.120

          .         .         .         .         .         .       g.6751
 AAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTG       c.420
 K  E  Q  L  F  A  E  A  S  G  A  R  P  G  V  P  K  V  L  V         p.140

          .         .         .         .         .         .       g.6811
 TGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGAC       c.480
 W  V  T  D  G  G  S  S  D  P  V  G  P  P  M  Q  E  L  K  D         p.160

          .         .         .         .         .         .       g.6871
 CTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCC       c.540
 L  G  V  T  V  F  I  V  S  T  G  R  G  N  F  L  E  L  S  A         p.180

          .         .         .         .         .         .       g.6931
 GCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATC       c.600
 A  A  S  A  P  A  E  K  H  L  H  F  V  D  V  D  D  L  H  I         p.200

          .         .         .  | 03      .         .         .    g.8587
 ATTGTCCAAGAGCTGAGGGGCTCCATTCTCG | ACGCGATGCGGCCGCAGCAGCTCCATGCC    c.660
 I  V  Q  E  L  R  G  S  I  L  D |   A  M  R  P  Q  Q  L  H  A      p.220

          .         .         .         .         .         .       g.8647
 ACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCG       c.720
 T  E  I  T  S  S  G  F  R  L  A  W  P  P  L  L  T  A  D  S         p.240

          .         .         .         .         .         .       g.8707
 GGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAG       c.780
 G  Y  Y  V  L  E  L  V  P  S  A  Q  P  G  A  A  R  R  Q  Q         p.260

          .         .         .         .         .         .       g.8767
 CTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGAC       c.840
 L  P  G  N  A  T  D  W  I  W  A  G  L  D  P  D  T  D  Y  D         p.280

          .         .         .         .         .         .       g.8827
 GTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGC       c.900
 V  A  L  V  P  E  S  N  V  R  L  L  R  P  Q  I  L  R  V  R         p.300

          .         .         .         .         .         .       g.8887
 ACGCGGCCCGGTGAGGCAGGGCCGGGGGCTTCGGGCCCGGAGTCGGGGGCTGGGCCGGCC       c.960
 T  R  P  G  E  A  G  P  G  A  S  G  P  E  S  G  A  G  P  A         p.320

          .         .         .         .         .         .       g.8947
 CCCACGCAGCTCGCCGCCCTCCCCGCCCCAGAGGAGGCCGGGCCAGAGCGCATCGTCATC       c.1020
 P  T  Q  L  A  A  L  P  A  P  E  E  A  G  P  E  R  I  V  I         p.340

          .         .         .         .         .         .       g.9007
 TCCCACGCCCGGCCGCGCAGCCTCCGCGTGAGTTGGGCCCCAGCGCTGGGCTCAGCCGCG       c.1080
 S  H  A  R  P  R  S  L  R  V  S  W  A  P  A  L  G  S  A  A         p.360

          .         .         .         .         .         .       g.9067
 GCGCTCGGCTACCACGTGCAGTTCGGGCCGCTGCGGGGCGGGGAGGCGCAGCGGGTGGAG       c.1140
 A  L  G  Y  H  V  Q  F  G  P  L  R  G  G  E  A  Q  R  V  E         p.380

          .         .         .         .         .         .       g.9127
 GTGCCCGCGGGCCGCAACTGCACCACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTG       c.1200
 V  P  A  G  R  N  C  T  T  L  Q  G  L  A  P  G  T  A  Y  L         p.400

          .         .         .         .         .         .       g.9187
 GTGACCGTGACCGCCGCCTTCCGCTCGGGCCGCGAGAGCGCGCTGTCCGCCAAGGCCTGC       c.1260
 V  T  V  T  A  A  F  R  S  G  R  E  S  A  L  S  A  K  A  C         p.420

          .         .         .         .         .         .       g.9247
 ACGCCCGACGGCCCGCGCCCGCGCCCACGCCCCGTGCCCCGCGCCCCGACCCCGGGGACC       c.1320
 T  P  D  G  P  R  P  R  P  R  P  V  P  R  A  P  T  P  G  T         p.440

          .                                                         g.9265
 GCCAGCCGTGAGCCGTAA                                                 c.1338
 A  S  R  E  P  X                                                   p.445

          .         .         .         .         .         .       g.9325
 gccggcgtccccgcccagccgagagggccggcgcctacctgagggcccctgtgtcccgaa       c.*60

          .         .         .         .         .         .       g.9385
 cccggagcggaggcgcccaacccggcagacgggtgcaggcccggcctttccccacgcgga       c.*120

          .         .         .         .         .         .       g.9445
 ctccgcgcgaccccggccctctccctgcggccgcagggcttccccgcctggcgcctgccc       c.*180

          .         .         .         .         .         .       g.9505
 tccagggctggggcctcgcctggcgggaccccgcagcagccccggccccatccccgccca       c.*240

          .         .         .         .         .         .       g.9565
 gagccgggcgtcgtgtgggtccgtgggtgataattgagagcgtcagacccaggactgttc       c.*300

          .         .         .         .         .         .       g.9625
 agggaggagccccggtcagactcccacgtgtgaagaccgggccccaagtggcaagggctg       c.*360

          .         .         .         .         .         .       g.9685
 gcctggggcgggcagcttgggtcctggacgttgataggaagcggaaggggaatcgcggga       c.*420

          .         .         .         .         .         .       g.9745
 agctggcccaggtcaggtccgcaaaggcttctgaagaagaggaagggcgagtaggggcac       c.*480

          .         .         .         .         .         .       g.9805
 ctggacgctgatggtggccaggatgctcagctggccaggagggcagcacctgctggggac       c.*540

          .         .         .         .         .         .       g.9865
 ggtggccctgccttcatgcccaggacaccagctgggtccagctagcagccactgggaatc       c.*600

          .         .         .         .         .         .       g.9925
 agaggaatggggcagagctgggcattcaggaccttgaggacacgtgaccccacccgccca       c.*660

          .         .         .         .         .         .       g.9985
 ccgccactatcaggccccgggaccgcactgacaggaaaccttccgtcgtgagggagcact       c.*720

          .         .         .         .         .         .       g.10045
 tcccaggggccgcagggacgacactctccagggaggccccagcaaccacaccatcttctt       c.*780

          .         .         .         .         .         .       g.10105
 gctgtgagaggtctcaccccgggctacctcctgtcactactcactgccctggggtccgtg       c.*840

          .         .         .         .         .         .       g.10165
 ggcaagttgcccagggtgggggtgcctagccaggtgcagtccccgccccgcctagtcctc       c.*900

          .         .         .         .         .         .       g.10225
 ggcgtcacgcaatgctcacctcgcctcttccccactaacatcccagactttaaaattcag       c.*960

          .         .         .         .         .         .       g.10285
 taaatcagatgtacaccgagcctgcagtctcgctaggatgctttactcctccacaaacag       c.*1020

          .         .         .         .         .         .       g.10345
 cagccgccgacaggacagcttgtgaacgtctccgccttttggggtgtccggggagaggag       c.*1080

          .         .         .         .         .         .       g.10405
 gtggagctgtcccctcccagtgtcaggcctccttggtcctcatgtgcaccttttattcag       c.*1140

          .         .         .         .         .         .       g.10465
 agagcttgggcccccttcctttggagctgggcccagggcaggtggctggaatgcagagga       c.*1200

          .         .         .         .         .         .       g.10525
 caagggggctggggcctctgcagggccattcccaccgcagtctctgccacggcccggagc       c.*1260

          .         .         .         .         .         .       g.10585
 cctgggcccagggccacgcgggctccctctgctggcaaagccacaccctgcaccgcatgg       c.*1320

          .         .         .         .         .         .       g.10645
 ggtccactgcccctttccccacgtggactctgcgtgaccccaggaactgcagcattgagg       c.*1380

          .         .         .         .         .         .       g.10705
 tggtctcagtccctccctcaggtctggtgggcattgtgccaggggccaccttcgggacag       c.*1440

          .         .         .         .         .         .       g.10765
 ctggccttggcaccgtctcccaagaacccagctctgtgcatcccgtggccccaccagaaa       c.*1500

          .         .         .         .         .         .       g.10825
 cccaaggccacaccgcccaccagctgggtgtggtcaccattcatggagggccggctgggg       c.*1560

          .         .         .         .         .         .       g.10885
 ccaggctcaccacgcagagtttgccctccggtgtgatgatgcatgagacacagtaggccc       c.*1620

          .         .         .         .         .         .       g.10945
 ccctgcctgtgtgtgcagggggtgtctgtgggggggccctgctggctggactttgggttt       c.*1680

          .         .         .         .         .         .       g.11005
 ctcctgagctccccttagcccccaagtcaggccacggaggcctgagtaggacccatgggc       c.*1740

          .         .         .         .         .         .       g.11065
 tgtgtgtgtcactgcaggtggcgtgctcacaactgcactgctggtcggcaggtggccagg       c.*1800

          .         .         .         .         .         .       g.11125
 gttgcaggcccgggcctcgggccccacctcctctggaggggtaggatctccttcgtgcag       c.*1860

          .         .         .         .         .         .       g.11185
 cccctgccccctaccctgttctccggagtgttggcagatctgagcccacggtcacgtgag       c.*1920

          .         .         .         .         .         .       g.11245
 aggagatgcctcttgcacactgagcccaggcccagctcacggagcaccctgcaggtggca       c.*1980

          .         .         .         .         .         .       g.11305
 gcggggcaccaggggctcattcctggtggcctcagtggcttctgtggacgactcagactc       c.*2040

          .         .         .         .         .         .       g.11365
 acatgagaagctgggaggagctccagctctgcaatcccgagagggcagagcgggggccct       c.*2100

          .         .         .         .         .         .       g.11425
 ggccacaaccctgctccccacatacccgtctggcagaggctctgcctcccctctgcccat       c.*2160

          .         .         .         .         .         .       g.11485
 ctctgcacaccaaggctgagcacagcacaaggcctcacggagagggtgaaaaggcactgc       c.*2220

          .         .         .         .         .         .       g.11545
 cgtctccatctcagtgccaaggaatgcccctttcagaagccctcgtctgagaagtgctgc       c.*2280

          .         .         .         .         .         .       g.11605
 cccttatgtagccccaggcattttaaaatctttgaatctgcaccaagtctcagaacagct       c.*2340

          .         .         .         .         .         .       g.11665
 ctggccccggagtgctccgtccaggccgctgtgaaccggctgtccccgcgtctcctccac       c.*2400

          .         .         .         .         .         .       g.11725
 ctcccctgacacaatcctggccccgactcagtccacccagggtgcagtgcagaggctgat       c.*2460

          .         .         .         .         .         .       g.11785
 acccgccaggacttccttgccaagggcccggccacgtcacaaggccactgcacgcttttc       c.*2520

          .         .         .         .         .         .       g.11845
 gacatgcacctggaaatcgggaagggccatgctgcagttgcttctagttgagacgagaag       c.*2580

          .         .         .         .         .         .       g.11905
 agcgacaaggttgtgatccacgtggcaggtgttcagaaggctgggggcgggcagcgctgg       c.*2640

          .         .         .         .         .         .       g.11965
 ggagagccctgggtacttcgaggagaccccgaagggaggctgctcccacacctgcgccag       c.*2700

          .         .         .         .         .         .       g.12025
 tttccaccctctctgtgagcagggctgcggtcacctcccacatctgaagagaaccaacct       c.*2760

          .         .         .         .         .         .       g.12085
 gaggatttcacgctggctgcgtgccagaccagtccctgacaggttgtgcgaggcccttcg       c.*2820

          .         .         .         .         .         .       g.12145
 ctggacagcccattgctggccactggacggagaggcagagggggctgaaattcgggccca       c.*2880

          .         .         .         .         .         .       g.12205
 tgcctctgtgagcgatgacggagcaacagctctccagcacgtgaagctctccagacagct       c.*2940

          .         .         .         .         .         .       g.12265
 gttcgtgagaagccagacagaggcctggggtctcagtccagatttctggggagtggggtg       c.*3000

          .         .         .         .         .         .       g.12325
 tccaagcgtgggccacgctgctgggagccacctagggaagcaggtcgcctgtttctatag       c.*3060

          .         .         .                                     g.12360
 tgacggtaataaaccaagtcaattttctatagtga                                c.*3095

 (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 10^th nucleotide is indicated by a "." above the sequence. The Von Willebrand factor A domain containing 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 10^th 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.