growth differentiation factor 1 (GDF1) - coding DNA reference sequence

(used for variant description)

(last modified May 28, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_001492.4 in the GDF1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012070.1, covering GDF1 transcript NM_001492.4.

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

 (upstream sequence)
                                                   .                g.5014
                                               acgcggggcgcgcg       c.-1381

 .         .         .         .         .         .                g.5074
 gctccgtcggctaccgcgggcgggcgcaggcgacgggcacggcgggcgagcgggcggtat       c.-1321

 .         .         .         .         .         .                g.5134
 ggcggcggcggggcccgcggcggggccgacggggcccgagcccatgccgagctacgcgca       c.-1261

 .         .         .         .         .         .                g.5194
 gctagtgcagcgcggctggggcagcgcgctggcggcggcgcggggctgcacggactgcgg       c.-1201

 .         .         .         .         .         .                g.5254
 ctgggggctggcgcgtcgcggcctggctgagcacgcgcacctggcgccgcccgagctgct       c.-1141

 .         .         .         .         .         .                g.5314
 gctgctggcgctcggcgcgctgggctggaccgccctgcgctccgcggccactgcgcgcct       c.-1081

 .       | 02 .         .         .         .         .             g.7622
 ctttcgg | cccctggcgaagcggtgctgcctccagcccagagatgccgccaagatgcccga    c.-1021

 .         .         .         .         .         .                g.7682
 gagcgcttggaagtttctcttctacctgggcagctggagctacagtgcctacctgctgtt       c.-961

 .         .         .         .         .       | 03 .             g.16890
 tggcaccgactaccccttcttccatgacccaccatctgtcttctacg | actggacgccggg    c.-901

 .         .         .         .         .         .                g.16950
 catggcagtgccacgggacattgcagccgcctacctgctccagggaagcttctatggcca       c.-841

 .         .         .         .         .         .                g.17010
 ctccatctacgctacgctatacatggacacctggcgcaaggactcggtggtcatgctgct       c.-781

 .         .         .         .         .        | 04.             g.20721
 ccaccacgtggtcactctcatcctcatcgtctcctcctacgccttccg | gtaccacaatgt    c.-721

 .         .         .         .         .         .                g.20781
 gggcatccttgtgctcttcctgcacgatatcagtgacgtgcagcttgagttcaccaagct       c.-661

 .         .         .         .         .         .                g.20841
 caacatttacttcaagtcccgcggcggctcctaccatcggctgcatgccttggcagcaga       c.-601

 .         .         .          | 05        .         .             g.21786
 cttgggctgcctcagcttcggcttcagctg | gttctggttccgcctctactggttcccgct    c.-541

 .         .         .         .         .         .                g.21846
 caaggtcctgtatgccaccagtcactgcagtctgcgcacggtgcctgacatccccttcta       c.-481

 .         .         .         .         .         .        | 06    g.22107
 cttcttcttcaatgcgctcctgctgctgctcacccttatgaacctctactggttcctg | ta    c.-421

 .         .         .         .         .         .                g.22167
 catcgtggcgtttgcagccaaggtgttgacaggccaggtgcacgagctgaaggacctgcg       c.-361

 .         .         .         .         .        | 07.             g.30537
 ggagtatgacacagccgaggcccagagcctgaagcccagcaaagccga | gaagccactgag    c.-301

 .         .         .         .         .         .                g.30597
 gaacggcctggtgaaggacaagcgcttctgaacccctcggccccgcccccgtggacccgg       c.-241

 .         .         .         .         .         .                g.30657
 ccccaccccgaataccccggccacgctccccgtccttggccgcccctccaccccctccaa       c.-181

 .         .         .         .         .         .                g.30717
 ctctgctcctctagggccgccgccacctcccctgggaccccgccccctcatcctgcctcc       c.-121

 .         .         .         .         .         .                g.30777
 agttcccggccacgccccccaggacccctgcccctccggggacaccggccccgccctcag       c.-61

 .         .         .         .         .         .                g.30837
 cccactggtcccgggccgccgcggaccctgcgcactctctggtcatcgcctgggaggaag       c.-1

          .         .         .         .         .         .       g.30897
 ATGCCACCGCCGCAGCAAGGTCCCTGCGGCCACCACCTCCTCCTCCTCCTGGCCCTGCTG       c.60
 M  P  P  P  Q  Q  G  P  C  G  H  H  L  L  L  L  L  A  L  L         p.20

          .         .         .         .         .         .       g.30957
 CTGCCCTCGCTGCCCCTGACCCGCGCCCCCGTGCCCCCAGGCCCAGCCGCCGCCCTGCTC       c.120
 L  P  S  L  P  L  T  R  A  P  V  P  P  G  P  A  A  A  L  L         p.40

          .         .         .         .         .         .       g.31017
 CAGGCTCTAGGACTGCGCGATGAGCCCCAGGGTGCCCCCAGGCTCCGGCCGGTTCCCCCG       c.180
 Q  A  L  G  L  R  D  E  P  Q  G  A  P  R  L  R  P  V  P  P         p.60

          .         .         .         .         .         .       g.31077
 GTCATGTGGCGCCTGTTTCGACGCCGGGACCCCCAGGAGACCAGGTCTGGCTCGCGGCGG       c.240
 V  M  W  R  L  F  R  R  R  D  P  Q  E  T  R  S  G  S  R  R         p.80

          .         .         .         .         .         .       g.31137
 ACGTCCCCAGGGGTCACCCTGCAACCGTGCCACGTGGAGGAGCTGGGGGTCGCCGGAAAC       c.300
 T  S  P  G  V  T  L  Q  P  C  H  V  E  E  L  G  V  A  G  N         p.100

          .         .      | 08  .         .         .         .    g.31789
 ATCGTGCGCCACATCCCGGACCGCG | GTGCGCCCACCCGGGCCTCGGAGCCTGCCTCGGCC    c.360
 I  V  R  H  I  P  D  R  G |   A  P  T  R  A  S  E  P  A  S  A      p.120

          .         .         .         .         .         .       g.31849
 GCGGGGCATTGCCCTGAGTGGACAGTCGTCTTCGACCTGTCGGCTGTGGAACCCGCTGAG       c.420
 A  G  H  C  P  E  W  T  V  V  F  D  L  S  A  V  E  P  A  E         p.140

          .         .         .         .         .         .       g.31909
 CGCCCGAGCCGGGCCCGCCTGGAGCTGCGTTTCGCGGCGGCGGCGGCGGCAGCCCCGGAG       c.480
 R  P  S  R  A  R  L  E  L  R  F  A  A  A  A  A  A  A  P  E         p.160

          .         .         .         .         .         .       g.31969
 GGCGGCTGGGAGCTGAGCGTGGCGCAAGCGGGCCAGGGCGCGGGCGCGGACCCCGGGCCG       c.540
 G  G  W  E  L  S  V  A  Q  A  G  Q  G  A  G  A  D  P  G  P         p.180

          .         .         .         .         .         .       g.32029
 GTGCTGCTCCGCCAGTTGGTGCCCGCCCTGGGGCCGCCAGTGCGCGCGGAGCTGCTGGGC       c.600
 V  L  L  R  Q  L  V  P  A  L  G  P  P  V  R  A  E  L  L  G         p.200

          .         .         .         .         .         .       g.32089
 GCCGCTTGGGCTCGCAACGCCTCATGGCCGCGCAGCCTCCGCCTGGCGCTGGCGCTACGC       c.660
 A  A  W  A  R  N  A  S  W  P  R  S  L  R  L  A  L  A  L  R         p.220

          .         .         .         .         .         .       g.32149
 CCCCGGGCCCCTGCCGCCTGCGCGCGCCTGGCCGAGGCCTCGCTGCTGCTGGTGACCCTC       c.720
 P  R  A  P  A  A  C  A  R  L  A  E  A  S  L  L  L  V  T  L         p.240

          .         .         .         .         .         .       g.32209
 GACCCGCGCCTGTGCCACCCCCTGGCCCGGCCGCGGCGCGACGCCGAACCCGTGTTGGGC       c.780
 D  P  R  L  C  H  P  L  A  R  P  R  R  D  A  E  P  V  L  G         p.260

          .         .         .         .         .         .       g.32269
 GGCGGCCCCGGGGGCGCTTGTCGCGCGCGGCGGCTGTACGTGAGCTTCCGCGAGGTGGGC       c.840
 G  G  P  G  G  A  C  R  A  R  R  L  Y  V  S  F  R  E  V  G         p.280

          .         .         .         .         .         .       g.32329
 TGGCACCGCTGGGTCATCGCGCCGCGCGGCTTCCTGGCCAACTACTGCCAGGGTCAGTGC       c.900
 W  H  R  W  V  I  A  P  R  G  F  L  A  N  Y  C  Q  G  Q  C         p.300

          .         .         .         .         .         .       g.32389
 GCGCTGCCCGTCGCGCTGTCGGGGTCCGGGGGGCCGCCGGCGCTCAACCACGCTGTGCTG       c.960
 A  L  P  V  A  L  S  G  S  G  G  P  P  A  L  N  H  A  V  L         p.320

          .         .         .         .         .         .       g.32449
 CGCGCGCTCATGCACGCGGCCGCCCCGGGAGCCGCCGACCTGCCCTGCTGCGTGCCCGCG       c.1020
 R  A  L  M  H  A  A  A  P  G  A  A  D  L  P  C  C  V  P  A         p.340

          .         .         .         .         .         .       g.32509
 CGCCTGTCGCCCATCTCCGTGCTCTTCTTTGACAACAGCGACAACGTGGTGCTGCGGCAG       c.1080
 R  L  S  P  I  S  V  L  F  F  D  N  S  D  N  V  V  L  R  Q         p.360

          .         .         .                                     g.32548
 TATGAGGACATGGTGGTGGACGAGTGCGGCTGCCGCTAA                            c.1119
 Y  E  D  M  V  V  D  E  C  G  C  R  X                              p.372

          .         .         .         .                           g.32593
 cccggggcgggcagggacgcgggcccaacaataaatgccgcgtgg                      c.*45

 (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 differentiation factor 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.