glyoxylate reductase/hydroxypyruvate reductase (GRHPR) - coding DNA reference sequence

(used for variant description)

(last modified July 14, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_012203.1 in the GRHPR gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000009.11, covering GRHPR transcript NM_012203.1.

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

 (upstream sequence)
                     .         .         .         .                g.5041
                    gcttctgtactgccaggtccgggtcggcggctgcactgcgg       c.-1

          .         .         .         .         .         .       g.5101
 ATGAGACCGGTGCGACTCATGAAGGTGTTCGTCACCCGCAGGATACCCGCCGAGGGTAGG       c.60
 M  R  P  V  R  L  M  K  V  F  V  T  R  R  I  P  A  E  G  R         p.20

          .         .    | 02    .         .         .         .    g.7172
 GTCGCGCTCGCCCGGGCGGCAGA | CTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATC    c.120
 V  A  L  A  R  A  A  D  |  C  E  V  E  Q  W  D  S  D  E  P  I      p.40

          .         .         .         .         .         .       g.7232
 CCTGCCAAGGAGCTAGAGCGAGGTGTGGCGGGGGCCCACGGCCTGCTCTGCCTCCTCTCC       c.180
 P  A  K  E  L  E  R  G  V  A  G  A  H  G  L  L  C  L  L  S         p.60

          .         .         .     | 03   .         .         .    g.8238
 GACCACGTGGACAAGAGGATCCTGGATGCTGCAG | GGGCCAATCTCAAAGTCATCAGCACC    c.240
 D  H  V  D  K  R  I  L  D  A  A  G |   A  N  L  K  V  I  S  T      p.80

          .         .         .         .        | 04.         .    g.8841
 ATGTCTGTGGGCATCGACCACTTGGCTTTGGATGAAATCAAGAAGCG | TGGGATCCGAGTT    c.300
 M  S  V  G  I  D  H  L  A  L  D  E  I  K  K  R  |  G  I  R  V      p.100

          .         .         .         .         .         .       g.8901
 GGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTT       c.360
 G  Y  T  P  D  V  L  T  D  T  T  A  E  L  A  V  S  L  L  L         p.120

          .         .         .         .     | 05   .         .    g.10790
 ACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAA | TGGTGGCTGGACCTCG    c.420
 T  T  C  R  R  L  P  E  A  I  E  E  V  K  N  |  G  G  W  T  S      p.140

          .         .         .         .         .         .       g.10850
 TGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGG       c.480
 W  K  P  L  W  L  C  G  Y  G  L  T  Q  S  T  V  G  I  I  G         p.160

          .    | 06    .         .         .         .         .    g.12069
 CTGGGGCGCATAG | GCCAGGCCATTGCTCGGCGTCTGAAACCATTCGGTGTCCAGAGATTT    c.540
 L  G  R  I  G |   Q  A  I  A  R  R  L  K  P  F  G  V  Q  R  F      p.180

          .         .         .         .         .         | 07    g.12803
 CTGTACACAGGGCGCCAGCCCAGGCCTGAGGAAGCAGCAGAATTCCAGGCAGAGTTTG | TG    c.600
 L  Y  T  G  R  Q  P  R  P  E  E  A  A  E  F  Q  A  E  F  V |       p.200

          .         .         .         .         .         .       g.12863
 TCTACCCCTGAGCTGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCT       c.660
 S  T  P  E  L  A  A  Q  S  D  F  I  V  V  A  C  S  L  T  P         p.220

          .         .         .         .         .         .       g.12923
 GCAACCGAGGGACTCTGCAACAAGGACTTCTTCCAGAAGATGAAGGAAACAGCTGTGTTC       c.720
 A  T  E  G  L  C  N  K  D  F  F  Q  K  M  K  E  T  A  V  F         p.240

          .     | 08   .         .         .         .         .    g.14344
 ATCAACATCAGCAG | GGGCGACGTCGTAAACCAGGACGACCTGTACCAGGCCTTGGCCAGT    c.780
 I  N  I  S  R  |  G  D  V  V  N  Q  D  D  L  Y  Q  A  L  A  S      p.260

          .         .         .         .         .         .       g.14404
 GGTAAGATTGCAGCTGCTGGACTGGATGTGACGAGCCCAGAACCACTGCCTACAAACCAC       c.840
 G  K  I  A  A  A  G  L  D  V  T  S  P  E  P  L  P  T  N  H         p.280

          .         .      | 09  .         .         .         .    g.18986
 CCTCTCCTGACCCTGAAGAACTGTG | TGATTCTGCCCCACATTGGCAGTGCCACCCACAGA    c.900
 P  L  L  T  L  K  N  C  V |   I  L  P  H  I  G  S  A  T  H  R      p.300

          .         .         .         .         .         .       g.19046
 ACCCGCAACACCATGTCCTTGTTGGCAGCTAACAACTTGCTGGCTGGCCTGAGAGGGGAG       c.960
 T  R  N  T  M  S  L  L  A  A  N  N  L  L  A  G  L  R  G  E         p.320

          .         .                                               g.19073
 CCGATGCCTAGTGAACTCAAGCTGTAG                                        c.987
 P  M  P  S  E  L  K  L  X                                          p.328

          .         .         .         .         .         .       g.19133
 ccaaacagtagagatggagggccgggaagcaaaccgtgccctggtattgtcagacacacc       c.*60

          .         .         .         .         .         .       g.19193
 caggcttgatttggatccacaggcagagccaagggaaggtgtgattctctgaggaaagag       c.*120

          .         .         .         .         .         .       g.19253
 tgattctgatatatgtacttgtcacattggtgttggacacatttgcgccaaaagtatggt       c.*180

          .         .                                               g.19280
 aattctattattaaataattctctgag                                        c.*207

 (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 Glyoxylate reductase/hydroxypyruvate reductase 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.