myosin, light chain 1, alkali; skeletal, fast (MYL1) - coding DNA reference sequence

(used for variant description)

(last modified October 27, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_079420.2 in the MYL1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering MYL1 transcript NM_079420.2.

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

 (upstream sequence)
                                                                    g.5009
                                                    actctgggt       c.-121

 .         .         .         .         .         .                g.5069
 ccatcttcaagacactgggctgtggatcaacccaaccaccactcctcttccaagaatcat       c.-61

 .         .         .         .         .         .                g.5129
 tttgacaggttcttttggaggaactccttctctttttaacccacccttttaaaaaaaaaa       c.-1

          .         .         .         .         .         .       g.5189
 ATGGCACCAAAGAAAGACGTGAAGAAACCTGTGGCTGCGGCTGCGGCTGCCCCAGCCCCG       c.60
 M  A  P  K  K  D  V  K  K  P  V  A  A  A  A  A  A  P  A  P         p.20

          .         .         .         .         .         .       g.5249
 GCACCGGCACCTGCACCTGCCCCTGCCCCAGCCAAACCCAAAGAAGAAAAAATTGACCTC       c.120
 A  P  A  P  A  P  A  P  A  P  A  K  P  K  E  E  K  I  D  L         p.40

          .   | 02     .         .         . | 03       .         . g.21628
 TCTGCCATTAAG | ATCGAGTTCTCTAAGGAACAGCAGGATG | AATTCAAGGAGGCATTTCTC c.180
 S  A  I  K   | I  E  F  S  K  E  Q  Q  D  E |   F  K  E  A  F  L   p.60

          .         .         .         .         .         .       g.21688
 CTGTTTGACAGAACAGGTGATTCCAAGATCACCTTAAGCCAGGTCGGTGATGTCCTTCGA       c.240
 L  F  D  R  T  G  D  S  K  I  T  L  S  Q  V  G  D  V  L  R         p.80

          .         .         .         .         .         .       g.21748
 GCTCTGGGCACAAATCCCACCAATGCAGAGGTCAGGAAAGTTCTGGGAAACCCCAGCAAT       c.300
 A  L  G  T  N  P  T  N  A  E  V  R  K  V  L  G  N  P  S  N         p.100

      | 04   .         .         .         .         .         .    g.25809
 GAAG | AGCTGAATGCCAAGAAAATTGAGTTTGAACAATTTCTGCCTATGATGCAAGCCATT    c.360
 E  E |   L  N  A  K  K  I  E  F  E  Q  F  L  P  M  M  Q  A  I      p.120

          .         .         .         .         .         .       g.25869
 TCCAACAACAAGGACCAGGCCACCTATGAAGACTTTGTTGAGGGTCTGCGTGTCTTTGAC       c.420
 S  N  N  K  D  Q  A  T  Y  E  D  F  V  E  G  L  R  V  F  D         p.140

          .         .         .         .         .         | 05    g.26373
 AAGGAAGGCAATGGCACAGTCATGGGTGCTGAACTCCGCCATGTTCTAGCCACCCTGG | GT    c.480
 K  E  G  N  G  T  V  M  G  A  E  L  R  H  V  L  A  T  L  G |       p.160

          .         .         .         .         .         .       g.26433
 GAAAAGATGAAAGAGGAAGAAGTGGAAGCCCTGATGGCAGGTCAAGAAGACTCCAATGGC       c.540
 E  K  M  K  E  E  E  V  E  A  L  M  A  G  Q  E  D  S  N  G         p.180

          .       | 06 .         .         .                    g.29141
 TGCATCAACTACGAAG | CTTTTGTCAAGCACATCATGTCTATCTGA |                c.586
 C  I  N  Y  E  A |   F  V  K  H  I  M  S  I  X                  p.194

          .     | 07   .         .         .         .         .    g.29765
 atggagctctcaag | aacaagcattgtttaggaagactggctggaaacttattttaatcac    c.*60

          .         .         .         .         .         .       g.29825
 acccatgacaaactctccagatctgtttaccatcattcaggaaaacaaagcaatctggac       c.*120

          .         .         .         .         .         .       g.29885
 ggttcaagactgagcaactccctgaatttttatacatcttcagtttttctctgaattgaa       c.*180

          .         .         .         .         .         .       g.29945
 ttcataccacacaaacaaagtgtctgctgctctagatgagaagaataaaatattgacaat       c.*240

          .         .         .         .         .         .       g.30005
 ctcaaatccaagcaccattctttattatctaccatgaatcaacaaacattcttaaaacaa       c.*300

          .         .         .                                     g.30043
 taaatcaataaacaattttggtcagtctggaatgttca                             c.*338

 (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 Myosin, light chain 1, alkali; skeletal, fast 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.