complexin 1 (CPLX1) - coding DNA reference sequence

(used for variant description)

(last modified January 17, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_006651.3 in the CPLX1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering CPLX1 transcript NM_006651.3.

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

 (upstream sequence)
                                                   .                g.5011
                                                  gtgacgcgccc       c.-181

 .         .         .         .         .         .                g.5071
 tcctcgcggtgcccttcagccgccgccgcagctcaccgggcgccacatggacccagccgg       c.-121

 .         .         .         .         . | 02       .             g.6575
 cccgagcgcgccccgccgctgaccgcccgcgccccgggaag | gaagaacactcgctcccgg    c.-61

 .         .         .         .         .         .                g.6635
 ccatacttgcgtgtgagttctgacccctggaggagccactgtggaagcagagcaatcgcc       c.-1

          .         .         .  | 03      .         .         .    g.38578
 ATGGAGTTTGTGATGAAGCAGGCTCTAGGAG | GGGCCACCAAGGACATGGGGAAGATGCTG    c.60
 M  E  F  V  M  K  Q  A  L  G  G |   A  T  K  D  M  G  K  M  L      p.20

          .         .         .         .         .         .       g.38638
 GGGGGTGACGAGGAGAAGGACCCAGACGCCGCCAAGAAGGAGGAGGAGCGGCAGGAGGCG       c.120
 G  G  D  E  E  K  D  P  D  A  A  K  K  E  E  E  R  Q  E  A         p.40

          .         .         .         .         .         .       g.38698
 CTGCGCCAGGCGGAGGAGGAGCGCAAGGCCAAGTACGCCAAGATGGAGGCGGAGCGCGAG       c.180
 L  R  Q  A  E  E  E  R  K  A  K  Y  A  K  M  E  A  E  R  E         p.60

          .         .        | 04.         .         .         .    g.44492
 GCCGTGCGCCAGGGCATCCGAGACAAG | TACGGCATCAAGAAGAAGGAGGAGCGCGAGGCC    c.240
 A  V  R  Q  G  I  R  D  K   | Y  G  I  K  K  K  E  E  R  E  A      p.80

          .         .         .         .         .         .       g.44552
 GAGGCCCAGGCCGCCATGGAGGCCAACTCCGAGGGGAGCTTGACGCGGCCCAAGAAGGCC       c.300
 E  A  Q  A  A  M  E  A  N  S  E  G  S  L  T  R  P  K  K  A         p.100

          .         .         .         .         .         .       g.44612
 ATCCCGCCGGGCTGCGGGGACGAGGTGGAGGAGGAGGACGAGAGCATCCTGGACACCGTC       c.360
 I  P  P  G  C  G  D  E  V  E  E  E  D  E  S  I  L  D  T  V         p.120

          .         .         .         .                           g.44657
 ATCAAGTACCTGCCCGGGCCGCTGCAGGACATGCTCAAGAAGTAG                      c.405
 I  K  Y  L  P  G  P  L  Q  D  M  L  K  K  X                        p.134

          .         .         .         .         .         .       g.44717
 ccgcgcgcgggacagcggccccgcggagcccccgcccctccccctacagatcctccgcgg       c.*60

          .         .         .         .         .         .       g.44777
 aggcccctgagggacgagcagagcgcagcccccacgccgatataagccatagccccaggc       c.*120

          .         .         .         .         .         .       g.44837
 ccgccctgcccgcgcccgccgcctccctcacccggcaaggggcgcgcgcccccaggaccc       c.*180

          .         .         .         .         .         .       g.44897
 ccccagtccgccccgtgctcctctgcccgcgggtggctggagccccatcgcctgggacgc       c.*240

          .         .         .         .         .         .       g.44957
 ccctttctcttgctgtttaccgcccacccagcagcgcccgaggccagggccgccgaaggg       c.*300

          .         .         .         .         .         .       g.45017
 cagccccgcgaccacccctgtgcgcgcgttcgcggcggtgggcgcctgtcgggcccgcac       c.*360

          .         .         .         .         .         .       g.45077
 tcaggagcacagccatagcagacggggggctgcgggcggggcgagggcggcggggcctgg       c.*420

          .         .         .         .         .         .       g.45137
 gtccccctcctgcacgcggactccggggttcggatcgctccgccgtgagtatttgcgtcc       c.*480

          .         .         .         .         .         .       g.45197
 gcacgcggccgctctccgccccccggcctggccccctcgcgcccctgtccatccgtctct       c.*540

          .         .         .         .         .         .       g.45257
 gtccgcgtcctttcctctcctctctggaaggttttgcttcttacgaacgccacggccgtg       c.*600

          .         .         .         .         .         .       g.45317
 ttcacttctaaactaaaggaaacaaagcaataggtttgggggacgcccagcccccacccc       c.*660

          .         .         .         .         .         .       g.45377
 cgtcaccccgctcttcccaagtcctcgccccccgcccggcctcctagcctctccgcccac       c.*720

          .         .         .         .         .         .       g.45437
 gcggctgctgcttctccctggggaggacccctgccctcggccattgaacactgcaccctc       c.*780

          .         .         .         .         .         .       g.45497
 cacaggagccgcagaggcccgaggcaccggacgctggagaccctgcgcccctgcccagca       c.*840

          .         .         .         .         .         .       g.45557
 cctcctccgtgggcagctcctcgggtggggcctgcggggttccctgcgcgcagctggcgc       c.*900

          .         .         .         .         .         .       g.45617
 gtgtgtggcctaatccacctggtggccctgcggggcggcatccgagcccctgtttctcct       c.*960

          .         .         .         .         .         .       g.45677
 ccattcatgtttaatttgcatcacaatttgttgaatctcaggtaaatgaggtctttgcat       c.*1020

          .         .         .         .         .         .       g.45737
 ttaatgagttttatcttgacaggcgccgcctcgcccccgggccctttcgtccacatcaaa       c.*1080

          .         .         .         .         .         .       g.45797
 aatgcatcaagtctccacgtgtttcgggccagggcgtggcttggcattgaccttcatgac       c.*1140

          .         .         .         .         .         .       g.45857
 cttacatagctttagagaagccataacgttagactgcaatactaacgaccgacgcccctc       c.*1200

          .         .         .         .         .         .       g.45917
 cgggcagagaccaccgcgcccctctgcgccccagcgacgcggcccgcggggacgtcgctg       c.*1260

          .         .         .         .         .         .       g.45977
 tccgtcctgctcgccctgtgccctctcactgacttctcccgggtcgtgtcttttaaaaac       c.*1320

          .         .         .         .         .         .       g.46037
 tcctgttttcacaccttacaaagccagctctgagcagacagggcgtcctctcgtagaacc       c.*1380

          .         .         .         .         .         .       g.46097
 tgcgcaccccgttcccagcgcatggcgccccgggccgcgagcttagcttagaccgtggtg       c.*1440

          .         .         .         .         .         .       g.46157
 tcctctgtccgtctgtcctgcgcctgcgcctcctcctgcatgtcggggcccctgcgtgtg       c.*1500

          .         .         .         .                           g.46201
 ttctctccggatggaatcacagccaataaacaccagtgatttca                       c.*1544

 (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 Complexin 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.