growth hormone 1 (GH1) - coding DNA reference sequence

(used for variant description)

(last modified November 8, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_000515.3 in the GH1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011676.1, covering GH1 transcript NM_000515.3.

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

 (upstream sequence)
                                                                    g.5002
                                                           ag       c.-61

 .         .         .         .         .         .                g.5062
 gatcccaaggcccaactccccgaaccactcagggtcctgtggacagctcacctagctgca       c.-1

          . | 02       .         .         .         .         .    g.5382
 ATGGCTACAG | GCTCCCGGACGTCCCTGCTCCTGGCTTTTGGCCTGCTCTGCCTGCCCTGG    c.60
 M  A  T  G |   S  R  T  S  L  L  L  A  F  G  L  L  C  L  P  W      p.20

          .         .         .         .         .         .       g.5442
 CTTCAAGAGGGCAGTGCCTTCCCAACCATTCCCTTATCCAGGCTTTTTGACAACGCTATG       c.120
 L  Q  E  G  S  A  F  P  T  I  P  L  S  R  L  F  D  N  A  M         p.40

          .         .         .         .         .  | 03      .    g.5711
 CTCCGCGCCCATCGTCTGCACCAGCTGGCCTTTGACACCTACCAGGAGTTT | GAAGAAGCC    c.180
 L  R  A  H  R  L  H  Q  L  A  F  D  T  Y  Q  E  F   | E  E  A      p.60

          .         .         .         .         .         .       g.5771
 TATATCCCAAAGGAACAGAAGTATTCATTCCTGCAGAACCCCCAGACCTCCCTCTGTTTC       c.240
 Y  I  P  K  E  Q  K  Y  S  F  L  Q  N  P  Q  T  S  L  C  F         p.80

          .         .         .         .         .  | 04      .    g.5923
 TCAGAGTCTATTCCGACACCCTCCAACAGGGAGGAAACACAACAGAAATCC | AACCTAGAG    c.300
 S  E  S  I  P  T  P  S  N  R  E  E  T  Q  Q  K  S   | N  L  E      p.100

          .         .         .         .         .         .       g.5983
 CTGCTCCGCATCTCCCTGCTGCTCATCCAGTCGTGGCTGGAGCCCGTGCAGTTCCTCAGG       c.360
 L  L  R  I  S  L  L  L  I  Q  S  W  L  E  P  V  Q  F  L  R         p.120

          .         .         .         .         .         .       g.6043
 AGTGTCTTCGCCAACAGCCTGGTGTACGGCGCCTCTGACAGCAACGTCTATGACCTCCTA       c.420
 S  V  F  A  N  S  L  V  Y  G  A  S  D  S  N  V  Y  D  L  L         p.140

          .         .         .       | 05 .         .         .    g.6356
 AAGGACCTAGAGGAAGGCATCCAAACGCTGATGGGG | AGGCTGGAAGATGGCAGCCCCCGG    c.480
 K  D  L  E  E  G  I  Q  T  L  M  G   | R  L  E  D  G  S  P  R      p.160

          .         .         .         .         .         .       g.6416
 ACTGGGCAGATCTTCAAGCAGACCTACAGCAAGTTCGACACAAACTCACACAACGATGAC       c.540
 T  G  Q  I  F  K  Q  T  Y  S  K  F  D  T  N  S  H  N  D  D         p.180

          .         .         .         .         .         .       g.6476
 GCACTACTCAAGAACTACGGGCTGCTCTACTGCTTCAGGAAGGACATGGACAAGGTCGAG       c.600
 A  L  L  K  N  Y  G  L  L  Y  C  F  R  K  D  M  D  K  V  E         p.200

          .         .         .         .         .                 g.6530
 ACATTCCTGCGCATCGTGCAGTGCCGCTCTGTGGAGGGCAGCTGTGGCTTCTAG             c.654
 T  F  L  R  I  V  Q  C  R  S  V  E  G  S  C  G  F  X               p.217

          .         .         .         .         .         .       g.6590
 ctgcccgggtggcatccctgtgacccctccccagtgcctctcctggccctggaagttgcc       c.*60

          .         .         .         .                           g.6636
 actccagtgcccaccagccttgtcctaataaaattaagttgcatca                     c.*106

 (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 Growth hormone 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.