guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1) - coding DNA reference sequence

(used for variant description)

(last modified October 24, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_144499.2 in the GNAT1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009831.1, covering GNAT1 transcript NM_144499.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5056
     agttgattgcaggtcctcctggggccagaagggtgcctgggaggccaggttctggg       c.-61

 .         .         .         .         .         .                g.5116
 gatcccctccatccagaagaaccacctgctcactctgtcccttcgcctgctgctgggacc       c.-1

          .         .         .         .         .         .       g.5176
 ATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAA       c.60
 M  G  A  G  A  S  A  E  E  K  H  S  R  E  L  E  K  K  L  K         p.20

          .         .         .         .       | 02 .         .    g.6537
 GAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGG | GTGCCGGTGAGTCC    c.120
 E  D  A  E  K  D  A  R  T  V  K  L  L  L  L  G |   A  G  E  S      p.40

          .         .          | 03        .         .         .    g.6686
 GGGAAGAGCACCATCGTCAAGCAGATGAA | GATTATCCACCAGGACGGGTACTCGCTGGAA    c.180
 G  K  S  T  I  V  K  Q  M  K  |  I  I  H  Q  D  G  Y  S  L  E      p.60

          .         .         .         .         .         .       g.6746
 GAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATC       c.240
 E  C  L  E  F  I  A  I  I  Y  G  N  T  L  Q  S  I  L  A  I         p.80

          .         .         .         .         .  | 04      .    g.6905
 GTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAG | GACGACGCC    c.300
 V  R  A  M  T  T  L  N  I  Q  Y  G  D  S  A  R  Q   | D  D  A      p.100

          .         .         .         .         .         .       g.6965
 CGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCG       c.360
 R  K  L  M  H  M  A  D  T  I  E  E  G  T  M  P  K  E  M  S         p.120

          .         .         .         .         .         .       g.7025
 GACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCG       c.420
 D  I  I  Q  R  L  W  K  D  S  G  I  Q  A  C  F  E  R  A  S         p.140

          .         .          | 05        .         .         .    g.7174
 GAGTACCAGCTCAACGACTCGGCGGGCTA | CTACCTCTCCGACCTGGAGCGCCTGGTAACC    c.480
 E  Y  Q  L  N  D  S  A  G  Y  |  Y  L  S  D  L  E  R  L  V  T      p.160

          .         .         .         .         .         .       g.7234
 CCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATC       c.540
 P  G  Y  V  P  T  E  Q  D  V  L  R  S  R  V  K  T  T  G  I         p.180

          .         .         .         | 06         .         .    g.7504
 ATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCG | GATGTTCGATGTGGGCGGGCAG    c.600
 I  E  T  Q  F  S  F  K  D  L  N  F  R  |  M  F  D  V  G  G  Q      p.200

          .         .         .         .         .         .       g.7564
 CGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATC       c.660
 R  S  E  R  K  K  W  I  H  C  F  E  G  V  T  C  I  I  F  I         p.220

          .         .         .         .         | 07         .    g.7903
 GCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTG | AACCGCATGCAC    c.720
 A  A  L  S  A  Y  D  M  V  L  V  E  D  D  E  V   | N  R  M  H      p.240

          .         .         .         .         .         .       g.7963
 GAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATC       c.780
 E  S  L  H  L  F  N  S  I  C  N  H  R  Y  F  A  T  T  S  I         p.260

          .         .         .         .         .         .       g.8023
 GTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGC       c.840
 V  L  F  L  N  K  K  D  V  F  F  E  K  I  K  K  A  H  L  S         p.280

          .         .   | 08     .         .         .         .    g.8193
 ATCTGTTTCCCGGACTACGATG | GACCCAACACCTACGAGGACGCCGGCAACTACATCAAG    c.900
 I  C  F  P  D  Y  D  G |   P  N  T  Y  E  D  A  G  N  Y  I  K      p.300

          .         .         .         .         .         .       g.8253
 GTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACG       c.960
 V  Q  F  L  E  L  N  M  R  R  D  V  K  E  I  Y  S  H  M  T         p.320

          .         .         .         .         .         .       g.8313
 TGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATC       c.1020
 C  A  T  D  T  Q  N  V  K  F  V  F  D  A  V  T  D  I  I  I         p.340

          .         .         .                                 g.8346
 AAGGAGAACCTCAAAGACTGTGGCCTCTTCTGA |                               c.1054
 K  E  N  L  K  D  C  G  L  F  X                                 p.350

   | 09      .         .         .         .         .         .    g.8717
 g | gtgcctgaattcatgcgtgtcagtcaccctgagacctggtagccctagctgccttgcag    c.*60

          .         .         .         .         .         .       g.8777
 ccccaaaccccaggaccctatcagccccctgggactccctggccccaacctgccacctca       c.*120

          .         .         .         .         .         .       g.8837
 ccaaagctctgagccctgctagccttgaggcgcggaccctcccccatacctcccacagta       c.*180

          .         .         .         .         .         .       g.8897
 tcccagcgcctcatgcccccaaccccaagccctgcccttcaccgcccggctgcactggcc       c.*240

          .         .         .         .         .         .       g.8957
 tctaggactcacagcagccagccccagctaggaacgggcaggacttggggcagctgaagc       c.*300

          .         .         .         .         .         .       g.9017
 tcacggtgactcagcagtgcccaactgaccaatctcccgcagctctcctgcccctggggg       c.*360

          .         .         .         .         .         .       g.9077
 cccacgactcacctggtgggcctgggctcagcaaacagccctccctcccagtatttcatc       c.*420

          .         .         .         .         .         .       g.9137
 aaggacagggaatatccctcccacacacaggccagctgctcaccctgccacctccatgtg       c.*480

          .         .         .         .         .         .       g.9197
 acaagtttgacacctgtctacccagagccagtgactgtccctcccagcagcctccaaagg       c.*540

          .         .         .         .         .         .       g.9257
 gtccaaagtccaagctagctctggcctgtgtggcccccacataaataaattagtggggag       c.*600

          .         .         .         .         .         .       g.9317
 ggggcagacctgggggcccttgggtgccagagtgagacacagcaggacccttccccaaat       c.*660

          .         .         .         .         .         .       g.9377
 actaggctcagagcaacctccagccttctccagcaggatctgctccctgtgtccttggac       c.*720

          .         .         .         .         .         .       g.9437
 agcagatccacacaccacttccccacccacacacagtaccctgggctggttggacaacag       c.*780

          .         .         .         .         .         .       g.9497
 gatggtgtgttaaggggttaagggagggtactgttgacaccagctatggccaatagctgg       c.*840

          .         .         .         .         .         .       g.9557
 gctgtcctgaggggtggctggggacagagtccagctcccttggatcagcccagaggattc       c.*900

          .         .         .         .         .         .       g.9617
 aggataggacaaaggccctggctgtgcccaaaagggtctacctcaggtggggttacaagc       c.*960

          .         .         .         .         .         .       g.9677
 aaacctgggtgaccctcttgtccctaccagcagcttctcttgccccttccattcagggtt       c.*1020

          .         .         .         .         .         .       g.9737
 ccctggcaggggaagctgagagccatggctgaactatcagggacaaaggcccatgtcccc       c.*1080

          .         .         .         .         .         .       g.9797
 acatccctgctccctccttcctcatccagcaccaaatctttgcttatgtccacaggccag       c.*1140

          .         .         .         .         .         .       g.9857
 ggcctgtgctgcagtcggggacaaggagcttccgtctggcaaggccggggcacaatttgc       c.*1200

          .         .         .         .         .         .       g.9917
 actcccctcagctagacgcacagactcagcaataaacctttgcatcaggctccagctgtc       c.*1260

          .         .         .         .         .         .       g.9977
 ctttcttggtggaggacttaattatcacaagtcatgggcatttattaagtgcccagtgct       c.*1320

          .         .         .         .         .         .       g.10037
 gggttgggcatgaagtgggaagatggcccctcccaggaagaagtacctggcctgacaagg       c.*1380

          .         .         .         .         .         .       g.10097
 tggggcactcttgggggtatgggaccaactcatggcttttcacgggagttgaggagagag       c.*1440

          .         .         .         .         .         .       g.10157
 gagctgtggaaaatattcactgggacagtcttggatcaagagggagttttgaggtggagg       c.*1500

          .         .         .         .         .         .       g.10217
 ctcattctggcagggaccgtagtgtctaccagccccagaaacatgggcttatggccacag       c.*1560

          .         .         .         .         .         .       g.10277
 gagttcagtggagcaagagcaggggaggagagacgtggacaggtgcccaaagccagtcgg       c.*1620

          .         .         .         .         .         .       g.10337
 agggcctgggctttctcagaaggtgatggagagtcttggaagccctcgaggcaggaacat       c.*1680

          .         .         .         .         .         .       g.10397
 aattgcagggctgggattagggtgagggaagtgaggcacactcaccttgggtgcaacatt       c.*1740

          .         .         .         .         .         .       g.10457
 taaggcgatgccaaaaaatttagtaaccaaggtaaataatattaggataatatttttaaa       c.*1800

          .         .         .         .         .         .       g.10517
 aatcaaatgaatgcaaaaccccacaatgaatgaaatatcaaaatccaacagaggatcaaa       c.*1860

          .         .         .         .         .         .       g.10577
 cagaggcatgctaagatatattggggcttgaagcaaagggaaaactatttgttgctatat       c.*1920

          .         .         .         .         .         .       g.10637
 gtttgtagggattttttgccagttttaaaaatacatgtatcataaagtttactatctcag       c.*1980

          .         .         .         .         .         .       g.10697
 ccacttgccggtgtatagtttggtggtgttaagtacattcataatgttgtacaaccaccg       c.*2040

          .         .         .         .         .         .       g.10757
 caactgttcatctccagaactcctttcctcttgtaaaactgtaactctgtacccatgaaa       c.*2100

          .         .         .         .         .         .       g.10817
 aaataaccccccattcctgccttcccccggctcctggcatccaccattctactttccatc       c.*2160

          .         .         .         .         .         .       g.10877
 tctatgaatgtgactgctctaagtgcctcagatgtgtgggtccatgaagtctttgtcttt       c.*2220

          .         .         .         .         .         .       g.10937
 ttgcaactggcttatttcacttagcatcatgtcttcaaggtttattcatgtgtagcatat       c.*2280

          .         .         .         .         .         .       g.10997
 ggcagaatctccttcctttttaaggttgaataatattccattgtatatattccacacttt       c.*2340

          .         .         .         .         .         .       g.11057
 gtttatttattcatctattgatgaatggttacatctgccttttggctattgtgaataatg       c.*2400

          .         .         .                                     g.11087
 ctgctatgaacatgggtgtacaaatctctc                                     c.*2430

 (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 Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 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.