von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) - coding DNA reference sequence

(used for variant description)

(last modified June 24, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_000551.3 in the VHL gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008212.3, covering VHL transcript NM_000551.3.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                               .         .         .                g.5033
                            cctcgcctccgttacaacggcctacggtgctgg       c.-181

 .         .         .         .         .         .                g.5093
 aggatccttctgcgcacgcgcacagcctccggccggctatttccgcgagcgcgttccatc       c.-121

 .         .         .         .         .         .                g.5153
 ctctaccgagcgcgcgcgaagactacggaggtcgactcgggagcgcgcacgcagctccgc       c.-61

 .         .         .         .         .         .                g.5213
 cccgcgtccgacccgcggatcccgcggcgtccggcccgggtggtctggatcgcggaggga       c.-1

          .         .         .         .         .         .       g.5273
 ATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTC       c.60
 M  P  R  R  A  E  N  W  D  E  A  E  V  G  A  E  E  A  G  V         p.20

          .         .         .         .         .         .       g.5333
 GAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCG       c.120
 E  E  Y  G  P  E  E  D  G  G  E  E  S  G  A  E  E  S  G  P         p.40

          .         .         .         .         .         .       g.5393
 GAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGG       c.180
 E  E  S  G  P  E  E  L  G  A  E  E  E  M  E  A  G  R  P  R         p.60

          .         .         .         .         .         .       g.5453
 CCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGT       c.240
 P  V  L  R  S  V  N  S  R  E  P  S  Q  V  I  F  C  N  R  S         p.80

          .         .         .         .         .         .       g.5513
 CCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACG       c.300
 P  R  V  V  L  P  V  W  L  N  F  D  G  E  P  Q  P  Y  P  T         p.100

          .         .         .         . | 02       .         .    g.9899
 CTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG | GTCACCTTTGGCTCTTCAGA    c.360
 L  P  P  G  T  G  R  R  I  H  S  Y  R  G |   H  L  W  L  F  R      p.120

          .         .         .         .         .         .       g.9959
 GATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTC       c.420
 D  A  G  T  H  D  G  L  L  V  N  Q  T  E  L  F  V  P  S  L         p.140

          .         .         .         .    | 03    .         .    g.13169
 AATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAG | TGTATACTCTGAAAGAG    c.480
 N  V  D  G  Q  P  I  F  A  N  I  T  L  P  V |   Y  T  L  K  E      p.160

          .         .         .         .         .         .       g.13229
 CGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATC       c.540
 R  C  L  Q  V  V  R  S  L  V  K  P  E  N  Y  R  R  L  D  I         p.180

          .         .         .         .         .         .       g.13289
 GTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGG       c.600
 V  R  S  L  Y  E  D  L  E  D  H  P  N  V  Q  K  D  L  E  R         p.200

          .         .         .         .                           g.13331
 CTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGA                         c.642
 L  T  Q  E  R  I  A  H  Q  R  M  G  D  X                           p.213

          .         .         .         .         .         .       g.13391
 agatttctgttgaaacttacactgtttcatctcagcttttgatggtactgatgagtcttg       c.*60

          .         .         .         .         .         .       g.13451
 atctagatacaggactggttccttccttagtttcaaagtgtctcattctcagagtaaaat       c.*120

          .         .         .         .         .         .       g.13511
 aggcaccattgcttaaaagaaagttaactgacttcactaggcattgtgatgtttaggggc       c.*180

          .         .         .         .         .         .       g.13571
 aaacatcacaaaatgtaatttaatgcctgcccattagagaagtatttatcaggagaaggt       c.*240

          .         .         .         .         .         .       g.13631
 ggtggcatttttgcttcctagtaagtcaggacagcttgtatgtaaggaggtttgtataag       c.*300

          .         .         .         .         .         .       g.13691
 taattcagtgggaattgcagcatatcgtttaattttaagaaggcattggcatctgctttt       c.*360

          .         .         .         .         .         .       g.13751
 aatggatgtataatacatccattctacatccgtagcggttggtgacttgtctgcctcctg       c.*420

          .         .         .         .         .         .       g.13811
 ctttgggaagactgaggcatccgtgaggcagggacaagtctttctcctctttgagacccc       c.*480

          .         .         .         .         .         .       g.13871
 agtgcctgcacatcatgagccttcagtcagggtttgtcagaggaacaaaccaggggacac       c.*540

          .         .         .         .         .         .       g.13931
 tttgttagaaagtgcttagaggttctgcctctatttttgttggggggtgggagaggggac       c.*600

          .         .         .         .         .         .       g.13991
 cttaaaatgtgtacagtgaacaaatgtcttaaagggaatcatttttgtaggaagcatttt       c.*660

          .         .         .         .         .         .       g.14051
 ttataattttctaagtcgtgcactttctcggtccactcttgttgaagtgctgttttatta       c.*720

          .         .         .         .         .         .       g.14111
 ctgtttctaaactaggattgacattctacagttgtgataatagcatttttgtaacttgcc       c.*780

          .         .         .         .         .         .       g.14171
 atccgcacagaaaatacgagaaaatctgcatgtttgattatagtattaatggacaaataa       c.*840

          .         .         .         .         .         .       g.14231
 gtttttgctaaatgtgagtatttctgttcctttttgtaaatatgtgacattcctgattga       c.*900

          .         .         .         .         .         .       g.14291
 tttgggtttttttgttgttgttgttttgttttgttttgtttttttgagatggagtctcac       c.*960

          .         .         .         .         .         .       g.14351
 tcttgtcacccaggctggagtgcagtggcgccatctcggctcactgcaacctctgcctcc       c.*1020

          .         .         .         .         .         .       g.14411
 tgggttcacgtaatcctcctgagtagctgggattacaggcgcctgccaccacgctggcca       c.*1080

          .         .         .         .         .         .       g.14471
 atttttgtacttttagtagagacagtgtttcgccatgttggccaggctggtttcaaactc       c.*1140

          .         .         .         .         .         .       g.14531
 ctgacctcaggtgatccgcccacctcagcctcccaaaatggtgggattacaggtgtgtgg       c.*1200

          .         .         .         .         .         .       g.14591
 gccaccgtgcctggctgattcagcattttttatcaggcaggaccaggtggcacttccacc       c.*1260

          .         .         .         .         .         .       g.14651
 tccagcctctggtcctaccaatggattcatggagtagcctggactgtttcatagttttct       c.*1320

          .         .         .         .         .         .       g.14711
 aaatgtacaaattcttataggctagacttagattcattaactcaaattcaatgcttctat       c.*1380

          .         .         .         .         .         .       g.14771
 cagactcagttttttgtaactaatagatttttttttccacttttgttctactccttccct       c.*1440

          .         .         .         .         .         .       g.14831
 aatagctttttaaaaaaatctccccagtagagaaacatttggaaaagacagaaaactaaa       c.*1500

          .         .         .         .         .         .       g.14891
 aaggaagaaaaaagatccctattagatacacttcttaaatacaatcacattaacattttg       c.*1560

          .         .         .         .         .         .       g.14951
 agctatttccttccagcctttttagggcagattttggttggtttttacatagttgagatt       c.*1620

          .         .         .         .         .         .       g.15011
 gtactgttcatacagttttataccctttttcatttaactttataacttaaatattgctct       c.*1680

          .         .         .         .         .         .       g.15071
 atgttagtataagcttttcacaaacattagtatagtctcccttttataattaatgtttgt       c.*1740

          .         .         .         .         .         .       g.15131
 gggtatttcttggcatgcatctttaattccttatcctagcctttgggcacaattcctgtg       c.*1800

          .         .         .         .         .         .       g.15191
 ctcaaaaatgagagtgacggctggcatggtggctcccgcctgtaatcccagtactttgga       c.*1860

          .         .         .         .         .         .       g.15251
 aagccaaggtaagaggattgcttgagcccagaacttcaagatgagcctgggctcatagtg       c.*1920

          .         .         .         .         .         .       g.15311
 agaacccatctatacaaaaaatttttaaaaattagcatggcggcacacatctgtaatcct       c.*1980

          .         .         .         .         .         .       g.15371
 agctacttggcaggctgaggtgagaagatcattggagtttaggaattggaggctgcagtg       c.*2040

          .         .         .         .         .         .       g.15431
 agccatgagtatgccactgcactccagcctgggggacagagcaagaccctgcctcaaaaa       c.*2100

          .         .         .         .         .         .       g.15491
 aaaaaaaaaaaaaaaaatcaggccgggcatggtggctcacgcctgtaatcccagcacttt       c.*2160

          .         .         .         .         .         .       g.15551
 gggaggtcgaggtgggcagatcacctgaggtcaggagttcgagaccagcctggccaacat       c.*2220

          .         .         .         .         .         .       g.15611
 ggtaaaaccccatttctactaaaaaatacaagaattagctgggtgtggtggcgcatgcct       c.*2280

          .         .         .         .         .         .       g.15671
 gtaatcctagctactcaggaggctgaggcaggagaatcacttgaacccaggaggcgaaga       c.*2340

          .         .         .         .         .         .       g.15731
 ttgcagtgagctgatatcgcaccattgtactccagcctgtgtgacagagcaatactcttg       c.*2400

          .         .         .         .         .         .       g.15791
 tctcaaaaaaaaaaaaaaattcaaatcagagtgaagtgaatgagacactccagttttcct       c.*2460

          .         .         .         .         .         .       g.15851
 tctactccgaatttcaactgattttagctcctcctttcaacattcaacaaatagtctttt       c.*2520

          .         .         .         .         .         .       g.15911
 tttttttttttttttttttttttttgagatggagtctcactctgttgcccaggctggagt       c.*2580

          .         .         .         .         .         .       g.15971
 gcagtggtgcgatctctgctcactacaagctctgcctcccgagttcaagtgattctcctg       c.*2640

          .         .         .         .         .         .       g.16031
 gctcaccctcctgagtagctgggattacaggcgcctgccaccatgcctggctaattttgt       c.*2700

          .         .         .         .         .         .       g.16091
 gtttttagtggagacggggtttcaccatgttgtccaggatggtcttgatctcctgacctt       c.*2760

          .         .         .         .         .         .       g.16151
 gtgatccacccacctcagcctcccaaagtgctgggattacaggtgtgagccaccgcgtcc       c.*2820

          .         .         .         .         .         .       g.16211
 agccagctttattattttttttaagctgtctttgtgtcaaaatgatagttcatgctcctc       c.*2880

          .         .         .         .         .         .       g.16271
 ttgttaaaacctgcaggccgagcacagtggctcatgcctgtaatcccagcattttgggag       c.*2940

          .         .         .         .         .         .       g.16331
 accaaggcggatggatcacctgaggtcaggagctgaagaccagcctggctaacatggtga       c.*3000

          .         .         .         .         .         .       g.16391
 aacctcatctccacttaaaatacaaaaattgccggccgcggcggctcatgcctgtaatcc       c.*3060

          .         .         .         .         .         .       g.16451
 cagcactttgggaggcctaggcgggtggatcacgaggtcaggaaatcgagaccatcctgg       c.*3120

          .         .         .         .         .         .       g.16511
 ctaacacgggtgaaaccccgtctctattaaaaaatagaaaaaattaggcgggcgtggtgg       c.*3180

          .         .         .         .         .         .       g.16571
 tgagcgcctgtagtcccagctactcgagagcctgaggcaggagaatggcatgaacctgga       c.*3240

          .         .         .         .         .         .       g.16631
 aggcggagcttgcagtgagctgagatggtgccactgcactctaacctgggcgacagagtg       c.*3300

          .         .         .         .         .         .       g.16691
 agacaccgtctcaaaaaaaaaaacaaaaaacaaaaattatccaggtgtggcggtgggcgc       c.*3360

          .         .         .         .         .         .       g.16751
 ctgtgaggcaggcgaatctcttgaacccgggaggcggaggttgcagtgagccaagatcac       c.*3420

          .         .         .         .         .         .       g.16811
 accattgcactccagcctgggcaacaagagtgaaattccatctcaaaaagaaaccaaaaa       c.*3480

          .         .         .         .         .         .       g.16871
 aacaaaaaaaaaacatgccgtttgagtactgtgtttttggtgttgtccaaggaaaattaa       c.*3540

          .         .         .         .         .         .       g.16931
 aaacctgtagcatgaataatgtttgtttttcatttcgaatcttgtgaatgtattaaatat       c.*3600

          .         .         .         .         .         .       g.16991
 atcgctcttaagagacggtgaagttcctatttcaagttttttttttttttttttttttta       c.*3660

          .         .         .         .                           g.17036
 aagctgttttttaatacattaaatggtgctgagtaaaggaaatag                      c.*3705

 (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 Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 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.