hypoxanthine phosphoribosyltransferase 1 (HPRT1) - coding DNA reference sequence

(used for variant description)

(last modified December 17, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_000194.2 in the HPRT1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering HPRT1 transcript NM_000194.2.

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

 (upstream sequence)
                     .         .         .         .                g.5047
              ggcggggcctgcttctcctcagcttcaggcggctgcgacgagccctc       c.-121

 .         .         .         .         .         .                g.5107
 aggcgaacctctcggctttcccgcgcggcgccgcctcttgctgcgcctccgcctcctcct       c.-61

 .         .         .         .         .         .                g.5167
 ctgctccgccaccggcttcctcctcctgagcagtcagcccgcgcgccggccggctccgtt       c.-1

          .         .        | 02.         .         .         .    g.18247
 ATGGCGACCCGCAGCCCTGGCGTCGTG | ATTAGTGATGATGAACCAGGTTATGACCTTGAT    c.60
 M  A  T  R  S  P  G  V  V   | I  S  D  D  E  P  G  Y  D  L  D      p.20

          .         .         .         .         .         .       g.18307
 TTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGA       c.120
 L  F  C  I  P  N  H  Y  A  E  D  L  E  R  V  F  I  P  H  G         p.40

          .     | 03   .         .         .         .         .    g.20082
 CTAATTATGGACAG | GACTGAACGTCTTGCTCGAGATGTGATGAAGGAGATGGGAGGCCAT    c.180
 L  I  M  D  R  |  T  E  R  L  A  R  D  V  M  K  E  M  G  G  H      p.60

          .         .         .         .         .         .       g.20142
 CACATTGTAGCCCTCTGTGTGCTCAAGGGGGGCTATAAATTCTTTGCTGACCTGCTGGAT       c.240
 H  I  V  A  L  C  V  L  K  G  G  Y  K  F  F  A  D  L  L  D         p.80

          .         .         .         .         .         .       g.20202
 TACATCAAAGCACTGAATAGAAATAGTGATAGATCCATTCCTATGACTGTAGATTTTATC       c.300
 Y  I  K  A  L  N  R  N  S  D  R  S  I  P  M  T  V  D  F  I         p.100

          .         | 04         .         .         .         .    g.31362
 AGACTGAAGAGCTATTGT | AATGACCAGTCAACAGGGGACATAAAAGTAATTGGTGGAGAT    c.360
 R  L  K  S  Y  C   | N  D  Q  S  T  G  D  I  K  V  I  G  G  D      p.120

          .         .     | 05   .         .   | 06     .         . g.38381
 GATCTCTCAACTTTAACTGGAAAG | AATGTCTTGATTGTGGAA | GATATAATTGACACTGGC c.420
 D  L  S  T  L  T  G  K   | N  V  L  I  V  E   | D  I  I  D  T  G   p.140

          .         .         .         .         .         .       g.38441
 AAAACAATGCAGACTTTGCTTTCCTTGGTCAGGCAGTATAATCCAAAGATGGTCAAGGTC       c.480
 K  T  M  Q  T  L  L  S  L  V  R  Q  Y  N  P  K  M  V  K  V         p.160

       | 07  .         .         .         .         .   | 08     . g.43471
 GCAAG | CTTGCTGGTGAAAAGGACCCCACGAAGTGTTGGATATAAGCCAGACT | TTGTTGGA c.540
 A  S  |  L  L  V  K  R  T  P  R  S  V  G  Y  K  P  D  F |   V  G   p.180

          .         .         .         .         .         .       g.43531
 TTTGAAATTCCAGACAAGTTTGTTGTAGGATATGCCCTTGACTATAATGAATACTTCAGG       c.600
 F  E  I  P  D  K  F  V  V  G  Y  A  L  D  Y  N  E  Y  F  R         p.200

           | 09        .         .         .         .              g.44936
 GATTTGAAT | CATGTTTGTGTCATTAGTGAAACTGGAAAAGCAAAATACAAAGCCTAA       c.657
 D  L  N   | H  V  C  V  I  S  E  T  G  K  A  K  Y  K  A  X         p.218

          .         .         .         .         .         .       g.44996
 gatgagagttcaagttgagtttggaaacatctggagtcctattgacatcgccagtaaaat       c.*60

          .         .         .         .         .         .       g.45056
 tatcaatgttctagttctgtggccatctgcttagtagagctttttgcatgtatcttctaa       c.*120

          .         .         .         .         .         .       g.45116
 gaattttatctgttttgtactttagaaatgtcagttgctgcattcctaaactgtttattt       c.*180

          .         .         .         .         .         .       g.45176
 gcactatgagcctatagactatcagttccctttgggcggattgttgtttaacttgtaaat       c.*240

          .         .         .         .         .         .       g.45236
 gaaaaaattctcttaaaccacagcactattgagtgaaacattgaactcatatctgtaaga       c.*300

          .         .         .         .         .         .       g.45296
 aataaagagaagatatattagttttttaattggtattttaatttttatatatgcaggaaa       c.*360

          .         .         .         .         .         .       g.45356
 gaatagaagtgattgaatattgttaattataccaccgtgtgttagaaaagtaagaagcag       c.*420

          .         .         .         .         .         .       g.45416
 tcaattttcacatcaaagacagcatctaagaagttttgttctgtcctggaattattttag       c.*480

          .         .         .         .         .         .       g.45476
 tagtgtttcagtaatgttgactgtattttccaacttgttcaaattattaccagtgaatct       c.*540

          .         .         .         .         .                 g.45527
 ttgtcagcagttcccttttaaatgcaaatcaataaattcccaaaaatttaa                c.*591

 (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 Hypoxanthine phosphoribosyltransferase 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.