actin, gamma 1 (ACTG1) - coding DNA reference sequence

(used for variant description)

(last modified March 18, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_001614.3 in the ACTG1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011433.1, covering ACTG1 transcript NM_001614.3.

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

 (upstream sequence)
                                                   .                g.4954
                                          gcgcgccgccgggccgcgc       c.-121

 .         .         .         .         .         .                g.5014
 gggcgcgccgcttccgcttaaataacggcgggggaggccgcggtcggtctcagtcgccgc       c.-61

 .         .         .         .         .         .    | 02        g.5447
 tgccagctctcgcactctgttcttccgccgctccgccgtcgcgtttctctgccg | gtcgca    c.-1

          .         .         .         .         .         .       g.5507
 ATGGAAGAAGAGATCGCCGCGCTGGTCATTGACAATGGCTCCGGCATGTGCAAAGCTGGT       c.60
 M  E  E  E  I  A  A  L  V  I  D  N  G  S  G  M  C  K  A  G         p.20

          .         .         .         .         .         .       g.5567
 TTTGCTGGGGACGACGCTCCCCGAGCCGTGTTTCCTTCCATCGTCGGGCGCCCCAGACAC       c.120
 F  A  G  D  D  A  P  R  A  V  F  P  S  I  V  G  R  P  R  H         p.40

     | 03    .         .         .         .         .         .    g.5716
 CAG | GGCGTCATGGTGGGCATGGGCCAGAAGGACTCCTACGTGGGCGACGAGGCCCAGAGC    c.180
 Q   | G  V  M  V  G  M  G  Q  K  D  S  Y  V  G  D  E  A  Q  S      p.60

          .         .         .         .         .         .       g.5776
 AAGCGTGGCATCCTGACCCTGAAGTACCCCATTGAGCATGGCATCGTCACCAACTGGGAC       c.240
 K  R  G  I  L  T  L  K  Y  P  I  E  H  G  I  V  T  N  W  D         p.80

          .         .         .         .         .         .       g.5836
 GACATGGAGAAGATCTGGCACCACACCTTCTACAACGAGCTGCGCGTGGCCCCGGAGGAG       c.300
 D  M  E  K  I  W  H  H  T  F  Y  N  E  L  R  V  A  P  E  E         p.100

          .         .         .         .         .         .       g.5896
 CACCCAGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACAGAGAGAAGATGACT       c.360
 H  P  V  L  L  T  E  A  P  L  N  P  K  A  N  R  E  K  M  T         p.120

     | 04    .         .         .         .         .         .    g.6232
 CAG | ATTATGTTTGAGACCTTCAACACCCCGGCCATGTACGTGGCCATCCAGGCCGTGCTG    c.420
 Q   | I  M  F  E  T  F  N  T  P  A  M  Y  V  A  I  Q  A  V  L      p.140

          .         .         .         .         .         .       g.6292
 TCCCTCTACGCCTCTGGGCGCACCACTGGCATTGTCATGGACTCTGGAGACGGGGTCACC       c.480
 S  L  Y  A  S  G  R  T  T  G  I  V  M  D  S  G  D  G  V  T         p.160

          .         .         .         .         .         .       g.6352
 CACACGGTGCCCATCTACGAGGGCTACGCCCTCCCCCACGCCATCCTGCGTCTGGACCTG       c.540
 H  T  V  P  I  Y  E  G  Y  A  L  P  H  A  I  L  R  L  D  L         p.180

          .         .         .         .         .         .       g.6412
 GCTGGCCGGGACCTGACCGACTACCTCATGAAGATCCTCACTGAGCGAGGCTACAGCTTC       c.600
 A  G  R  D  L  T  D  Y  L  M  K  I  L  T  E  R  G  Y  S  F         p.200

          .         .         .         .         .         .       g.6472
 ACCACCACGGCCGAGCGGGAAATCGTGCGCGACATCAAGGAGAAGCTGTGCTACGTCGCC       c.660
 T  T  T  A  E  R  E  I  V  R  D  I  K  E  K  L  C  Y  V  A         p.220

          .         .         .         .         .         .       g.6532
 CTGGACTTCGAGCAGGAGATGGCCACCGCCGCATCCTCCTCTTCTCTGGAGAAGAGCTAC       c.720
 L  D  F  E  Q  E  M  A  T  A  A  S  S  S  S  L  E  K  S  Y         p.240

          .         .         .         .         .         .       g.6592
 GAGCTGCCCGATGGCCAGGTCATCACCATTGGCAATGAGCGGTTCCGGTGTCCGGAGGCG       c.780
 E  L  P  D  G  Q  V  I  T  I  G  N  E  R  F  R  C  P  E  A         p.260

          .         .   | 05     .         .         .         .    g.6731
 CTGTTCCAGCCTTCCTTCCTGG | GTATGGAATCTTGCGGCATCCACGAGACCACCTTCAAC    c.840
 L  F  Q  P  S  F  L  G |   M  E  S  C  G  I  H  E  T  T  F  N      p.280

          .         .         .         .         .         .       g.6791
 TCCATCATGAAGTGTGACGTGGACATCCGCAAAGACCTGTACGCCAACACGGTGCTGTCG       c.900
 S  I  M  K  C  D  V  D  I  R  K  D  L  Y  A  N  T  V  L  S         p.300

          .         .         .         .         .         .       g.6851
 GGCGGCACCACCATGTACCCGGGCATTGCCGACAGGATGCAGAAGGAGATCACCGCCCTG       c.960
 G  G  T  T  M  Y  P  G  I  A  D  R  M  Q  K  E  I  T  A  L         p.320

          .         .     | 06   .         .         .         .    g.7004
 GCGCCCAGCACCATGAAGATCAAG | ATCATCGCACCCCCAGAGCGCAAGTACTCGGTGTGG    c.1020
 A  P  S  T  M  K  I  K   | I  I  A  P  P  E  R  K  Y  S  V  W      p.340

          .         .         .         .         .         .       g.7064
 ATCGGTGGCTCCATCCTGGCCTCACTGTCCACCTTCCAGCAGATGTGGATTAGCAAGCAG       c.1080
 I  G  G  S  I  L  A  S  L  S  T  F  Q  Q  M  W  I  S  K  Q         p.360

          .         .         .         .                           g.7112
 GAGTACGACGAGTCGGGCCCCTCCATCGTCCACCGCAAATGCTTCTAA                   c.1128
 E  Y  D  E  S  G  P  S  I  V  H  R  K  C  F  X                     p.375

          .         .         .         .         .         .       g.7172
 acggactcagcagatgcgtagcatttgctgcatgggttaattgagaatagaaatttgccc       c.*60

          .         .         .         .         .         .       g.7232
 ctggcaaatgcacacacctcatgctagcctcacgaaactggaataagccttcgaaaagaa       c.*120

          .         .         .         .         .         .       g.7292
 attgtccttgaagcttgtatctgatatcagcactggattgtagaacttgttgctgatttt       c.*180

          .         .         .         .         .         .       g.7352
 gaccttgtattgaagttaactgttccccttggtatttgtttaataccctgtacatatctt       c.*240

          .         .         .         .         .         .       g.7412
 tgagttcaacctttagtacgtgtggcttggtcacttcgtggctaaggtaagaacgtgctt       c.*300

          .         .         .         .         .         .       g.7472
 gtggaagacaagtctgtggcttggtgagtctgtgtggccagcagcctctgatctgtgcag       c.*360

          .         .         .         .         .         .       g.7532
 ggtattaacgtgtcagggctgagtgttctgggatttctctagaggctggcaagaaccagt       c.*420

          .         .         .         .         .         .       g.7592
 tgttttgtcttgcgggtctgtcagggttggaaagtccaagccgtaggacccagtttcctt       c.*480

          .         .         .         .         .         .       g.7652
 tcttagctgatgtctttggccagaacaccgtgggctgttacttgctttgagttggaagcg       c.*540

          .         .         .         .         .         .       g.7712
 gtttgcatttacgcctgtaaatgtattcattcttaatttatgtaaggttttttttgtacg       c.*600

          .         .         .         .         .         .       g.7772
 caattctcgattctttgaagagatgacaacaaattttggttttctactgttatgtgagaa       c.*660

          .         .         .         .         .                 g.7831
 cattaggccccagcaacacgtcattgtgtaaggaaaaataaaagtgctgccgtaaccaa        c.*719

 (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 Actin, gamma 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.