GNAS complex locus (GNAS) - coding DNA reference sequence

(used for variant description)

(last modified January 23, 2015)

This file was created to facilitate the description of sequence variants in the GNAS gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_016194.1, covering GNAS transcript NM_001077488.1. This transcript contains exon 3 (missing in NM_080426.2) and 4 (missing in NM_000516.4, both missing in NM_001077489.1) that are alternatively spliced in other transcripts. The 5'-end of exon 4 is alternatively spliced using a rare exceptional 'tg' splice acceptor site. Additional upstream located 5'-first exons are used in transcripts NM_016592.2, NM_001077490.1 and NR_003259.1.

The sequence was taken from NG_016194.1, covering GNAS transcript NM_001077488.2.

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

 (upstream sequence)
           .         .         .         .         .                g.56687
     ggcgggggcccggccgaggcaataagagcggcggcggcggcagcggcggcagcagc       c.-301

 .         .         .         .         .         .                g.56747
 tcccgcagctcctgctctggtccgcctcggcccggcggcggccatcagccccctcggcct       c.-241

 .         .         .         .         .         .                g.56807
 cggctcgaggggcggggagctgcgcgcgcccctcggtccgaccgacaccctccccttccc       c.-181

 .         .         .         .         .         .                g.56867
 gcccgtccgcgcgccccgcggcccgcggcccgcagtccgccccgcgcgctccttgccgag       c.-121

 .         .         .         .         .         .                g.56927
 gagccgagcccgcgcccggcccgcccgcccggcgctgccccggccctcccggcccgcgtg       c.-61

 .         .         .         .         .         .                g.56987
 aggccgcccgcgcccgccgccgccgcagcccggccgcgccccgccgccgccgccgccgcc       c.-1

          .         .         .         .         .         .       g.57047
 ATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGT       c.60
 M  G  C  L  G  N  S  K  T  E  D  Q  R  N  E  E  K  A  Q  R         p.20

          .         .         .         .         .         .       g.57107
 GAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACG       c.120
 E  A  N  K  K  I  E  K  Q  L  Q  K  D  K  Q  V  Y  R  A  T         p.40

          .          | 02        .         .         .         .    g.60913
 CACCGCCTGCTGCTGCTGG | GTGCTGGAGAATCTGGTAAAAGCACCATTGTGAAGCAGATG    c.180
 H  R  L  L  L  L  G |   A  G  E  S  G  K  S  T  I  V  K  Q  M      p.60

          .         .         .   | 03     .         .         .    g.64229
 AGGATCCTGCATGTTAATGGGTTTAATGGAGA | GGGCGGCGAAGAGGACCCGCAGGCTGCA    c.240
 R  I  L  H  V  N  G  F  N  G  E  |  G  G  E  E  D  P  Q  A  A      p.80

          .        | 04.         .         .         .         .    g.68831
 AGGAGCAACAGCGATGG | CAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTG    c.300
 R  S  N  S  D  G  |  S  E  K  A  T  K  V  Q  D  I  K  N  N  L      p.100

          .      | 05  .         .         .         .         .    g.68977
 AAAGAGGCGATTGAA | ACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTG    c.360
 K  E  A  I  E   | T  I  V  A  A  M  S  N  L  V  P  P  V  E  L      p.120

          .         .         .         .         .         .       g.69037
 GCCAACCCCGAGAACCAGTTCAGAGTGGACTACATCCTGAGTGTGATGAACGTGCCTGAC       c.420
 A  N  P  E  N  Q  F  R  V  D  Y  I  L  S  V  M  N  V  P  D         p.140

          .      | 06  .         .         .         .         .    g.70688
 TTTGACTTCCCTCCC | GAATTCTATGAGCATGCCAAGGCTCTGTGGGAGGATGAAGGAGTG    c.480
 F  D  F  P  P   | E  F  Y  E  H  A  K  A  L  W  E  D  E  G  V      p.160

          .         .         .         .         .    | 07    .    g.74429
 CGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACTGTGCCCAGTA | CTTCCTG    c.540
 R  A  C  Y  E  R  S  N  E  Y  Q  L  I  D  C  A  Q  Y  |  F  L      p.180

          .         .         .         .         | 08         .    g.74622
 GACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAG | GACCTGCTTCGC    c.600
 D  K  I  D  V  I  K  Q  A  D  Y  V  P  S  D  Q   | D  L  L  R      p.200

          .         .         .         .         .         .       g.74682
 TGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTC       c.660
 C  R  V  L  T  S  G  I  F  E  T  K  F  Q  V  D  K  V  N  F         p.220

    | 09     .         .         .         .         .         .    g.74839
 CA | CATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAAC    c.720
 H  |  M  F  D  V  G  G  Q  R  D  E  R  R  K  W  I  Q  C  F  N      p.240

   | 10      .         .         .         .         .         .    g.75003
 G | ATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAG    c.780
 D |   V  T  A  I  I  F  V  V  A  S  S  S  Y  N  M  V  I  R  E      p.260

          .         .         .         .         .         .       g.75063
 GACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAAC       c.840
 D  N  Q  T  N  R  L  Q  E  A  L  N  L  F  K  S  I  W  N  N         p.280

    | 11     .         .         .         .         .         .    g.75269
 AG | ATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAG    c.900
 R  |  W  L  R  T  I  S  V  I  L  F  L  N  K  Q  D  L  L  A  E      p.300

          .         .         .         .         .         .       g.75329
 AAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACT       c.960
 K  V  L  A  G  K  S  K  I  E  D  Y  F  P  E  F  A  R  Y  T         p.320

          .    | 12    .         .         .         .         .    g.75641
 ACTCCTGAGGATG | CTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTAC    c.1020
 T  P  E  D  A |   T  P  E  P  G  E  D  P  R  V  T  R  A  K  Y      p.340

          .         .  | 13      .         .         .         .    g.75982
 TTCATTCGAGATGAGTTTCTG | AGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGC    c.1080
 F  I  R  D  E  F  L   | R  I  S  T  A  S  G  D  G  R  H  Y  C      p.360

          .         .         .         .         .         .       g.76042
 TACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGC       c.1140
 Y  P  H  F  T  C  A  V  D  T  E  N  I  R  R  V  F  N  D  C         p.380

          .         .         .         .                           g.76090
 CGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAA                   c.1188
 R  D  I  I  Q  R  M  H  L  R  Q  Y  E  L  L  X                     p.395

          .         .         .         .         .         .       g.76150
 gaagggaacccccaaatttaattaaagccttaagcacaattaattaaaagtgaaacgtaa       c.*60

          .         .         .         .         .         .       g.76210
 ttgtacaagcagttaatcacccaccatagggcatgattaacaaagcaacctttcccttcc       c.*120

          .         .         .         .         .         .       g.76270
 cccgagtgattttgcgaaacccccttttcccttcagcttgcttagatgttccaaatttag       c.*180

          .         .         .         .         .         .       g.76330
 aaagcttaaggcggcctacagaaaaaggaaaaaaggccacaaaagttccctctcactttc       c.*240

          .         .         .         .         .         .       g.76390
 agtaaaaataaataaaacagcagcagcaaacaaataaaatgaaataaaagaaacaaatga       c.*300

          .         .         .         .         .         .       g.76450
 aataaatattgtgttgtgcagcattaaaaaaaatcaaaataaaaattaaatgtgagcaaa       c.*360

                                                                    g.76456
 gaatga                                                             c.*366

 (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 GNAS complex locus 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.