calcium activated nucleotidase 1 (CANT1) - coding DNA reference sequence

(used for variant description)

(last modified October 22, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_001159772.1 in the CANT1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016645.1, covering CANT1 transcript NM_001159772.1.

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

 (upstream sequence)
                                                   .                g.5019
                                          agaggctgccgggaacgcg       c.-421

 .         .         .         .         .         .                g.5079
 ggcccagaggcggggcgagcgcgcgcggggcggaagtcggccaccttcctccgtcccggc       c.-361

 .         .         .         .         .         .                g.5139
 cgttagcccagccaagcccagccaagcccagccaagccccgccgatcgcgggcaccggag       c.-301

 .         .     | 02   .         .         .         .             g.16576
 ccagccccgcagcgg | gagcctaacccagaggaagtggagactcctttactgcacatctgt    c.-241

 .         .         .         .         .         .                g.16636
 ctgctccaggccaggcactgttctaggagccaggatacagaggtggagacagaaacaaac       c.-181

 .         .         .         .    | 03    .         .             g.16880
 aaaccgataactgtatacaatactctaacgtcag | agggaccacagagcaccagcctgcat    c.-121

 .         .         .         .         .         .                g.16940
 ggaacttccttcctcactcagcttcccacgttgccagctgggacaggggagatggagtaa       c.-61

 .         .         .         .        | 04.         .             g.17195
 ttttgctgtggaaagacttcacgtcttgccgaatgaaa | gtcccgcctgtctgtcacgctg    c.-1

          .         .         .         .         .         .       g.17255
 ATGCCCGTGCAGCTGTCTGAGCACCCGGAATGGAATGAGTCTATGCACTCCCTCCGGATC       c.60
 M  P  V  Q  L  S  E  H  P  E  W  N  E  S  M  H  S  L  R  I         p.20

          .         .         .         .         .         .       g.17315
 AGTGTGGGGGGCCTTCCTGTGCTGGCGTCCATGACCAAGGCCGCGGACCCCCGCTTCCGC       c.120
 S  V  G  G  L  P  V  L  A  S  M  T  K  A  A  D  P  R  F  R         p.40

          .         .         .         .         .         .       g.17375
 CCCCGCTGGAAGGTGATCCTGACGTTCTTTGTGGGTGCTGCCATCCTCTGGCTGCTCTGC       c.180
 P  R  W  K  V  I  L  T  F  F  V  G  A  A  I  L  W  L  L  C         p.60

          .         .         .         .         .         .       g.17435
 TCCCACCGCCCGGCCCCCGGCAGGCCCCCCACCCACAATGCACACAACTGGAGGCTCGGC       c.240
 S  H  R  P  A  P  G  R  P  P  T  H  N  A  H  N  W  R  L  G         p.80

          .         .         .         .         .         .       g.17495
 CAGGCGCCCGCCAACTGGTACAATGACACCTACCCCCTGTCTCCCCCACAAAGGACACCG       c.300
 Q  A  P  A  N  W  Y  N  D  T  Y  P  L  S  P  P  Q  R  T  P         p.100

          .         .         .         .         .         .       g.17555
 GCTGGGATTCGGTATCGAATCGCAGTTATCGCAGACCTGGACACAGAGTCAAGGGCCCAA       c.360
 A  G  I  R  Y  R  I  A  V  I  A  D  L  D  T  E  S  R  A  Q         p.120

          .         .         .         .         .         .       g.17615
 GAGGAAAACACCTGGTTCAGTTACCTGAAAAAGGGCTACCTGACCCTGTCAGACAGTGGG       c.420
 E  E  N  T  W  F  S  Y  L  K  K  G  Y  L  T  L  S  D  S  G         p.140

          .         .         .         .         .         .       g.17675
 GACAAGGTGGCCGTGGAATGGGACAAAGACCATGGGGTCCTGGAGTCCCACCTGGCGGAG       c.480
 D  K  V  A  V  E  W  D  K  D  H  G  V  L  E  S  H  L  A  E         p.160

          .         .         .         .         .         .       g.17735
 AAGGGGAGAGGCATGGAGCTATCCGACCTGATTGTTTTCAATGGGAAACTCTACTCCGTG       c.540
 K  G  R  G  M  E  L  S  D  L  I  V  F  N  G  K  L  Y  S  V         p.180

          .         .         .         .         .         .       g.17795
 GATGACCGGACGGGGGTCGTCTACCAGATCGAAGGCAGCAAAGCCGTGCCCTGGGTGATT       c.600
 D  D  R  T  G  V  V  Y  Q  I  E  G  S  K  A  V  P  W  V  I         p.200

          .         .         .  | 05      .         .         .    g.19625
 CTGTCCGACGGCGACGGCACCGTGGAGAAAG | GCTTCAAGGCCGAATGGCTGGCAGTGAAG    c.660
 L  S  D  G  D  G  T  V  E  K  G |   F  K  A  E  W  L  A  V  K      p.220

          .         .         .         .         .         .       g.19685
 GACGAGCGTCTGTACGTGGGCGGCCTGGGCAAGGAGTGGACGACCACTACGGGTGATGTG       c.720
 D  E  R  L  Y  V  G  G  L  G  K  E  W  T  T  T  T  G  D  V         p.240

          .         .         .         .         .         .       g.19745
 GTGAACGAGAACCCGGAGTGGGTGAAGGTGGTGGGCTACAAGGGCAGCGTGGACCACGAG       c.780
 V  N  E  N  P  E  W  V  K  V  V  G  Y  K  G  S  V  D  H  E         p.260

          .         .         .         .         .      | 06  .    g.20902
 AACTGGGTGTCCAACTACAACGCCCTGCGGGCTGCTGCCGGCATCCAGCCGCCAG | GCTAC    c.840
 N  W  V  S  N  Y  N  A  L  R  A  A  A  G  I  Q  P  P  G |   Y      p.280

          .         .         .         .         .         .       g.20962
 CTCATCCATGAGTCTGCCTGCTGGAGTGACACGCTGCAGCGCTGGTTCTTCCTGCCGCGC       c.900
 L  I  H  E  S  A  C  W  S  D  T  L  Q  R  W  F  F  L  P  R         p.300

          .         .         .         .         .         .       g.21022
 CGCGCCAGCCAGGAGCGCTACAGCGAGAAGGACGACGAGCGCAAGGGCGCCAACCTGCTG       c.960
 R  A  S  Q  E  R  Y  S  E  K  D  D  E  R  K  G  A  N  L  L         p.320

          .         .         .         .         .         .       g.21082
 CTGAGCGCCTCCCCTGACTTCGGCGACATCGCTGTGAGCCACGTCGGGGCGGTGGTCCCC       c.1020
 L  S  A  S  P  D  F  G  D  I  A  V  S  H  V  G  A  V  V  P         p.340

          .         .         .         .         .         .       g.21142
 ACTCACGGCTTCTCGTCCTTCAAGTTCATCCCCAACACCGACGACCAGATCATTGTGGCC       c.1080
 T  H  G  F  S  S  F  K  F  I  P  N  T  D  D  Q  I  I  V  A         p.360

          .         .         .         .         .         .       g.21202
 CTCAAATCCGAGGAGGACAGCGGCAGAGTCGCCTCCTACATCATGGCCTTCACGCTGGAC       c.1140
 L  K  S  E  E  D  S  G  R  V  A  S  Y  I  M  A  F  T  L  D         p.380

          .         .         .         .         .         .       g.21262
 GGGCGCTTCCTGTTGCCGGAGACCAAGATCGGAAGCGTGAAATACGAAGGCATCGAGTTC       c.1200
 G  R  F  L  L  P  E  T  K  I  G  S  V  K  Y  E  G  I  E  F         p.400

                                                                    g.21268
 ATTTAA                                                             c.1206
 I  X                                                               p.401

          .         .         .         .         .         .       g.21328
 ctcaaaacggaaacactgagcaaggccatcaggactcagcttttataaaaacaagaggag       c.*60

          .         .         .         .         .         .       g.21388
 tgcacttttgttttgttttgttctttttggaactgtgcctgggttggaggtctggacagg       c.*120

          .         .         .         .         .         .       g.21448
 gagcccagtcccgggccccatagtggtgcgggcactggacccccgggccccacggaggcc       c.*180

          .         .         .         .         .         .       g.21508
 gcggtctgaactgctttccatgctgccatctggtggtgatttcggtcacttcaggcattg       c.*240

          .         .         .         .         .         .       g.21568
 actcaaggcctgcctaactggctgggtcgtttcttccatccgacctcgtttcttttcttt       c.*300

          .         .         .         .         .         .       g.21628
 cctatgttcttttgttcagtgaatatccctagagctcctaccatatgtcaggccctatgc       c.*360

          .         .         .         .         .         .       g.21688
 ctcaccctgagaacgcagtgagcatgaggtggacctgtttgctgggaaccccaggtcacc       c.*420

          .         .         .         .         .         .       g.21748
 cccttttcttcctactctgtgcctggagcatcatgtccacccctgcagatccttggaaaa       c.*480

          .         .         .         .         .         .       g.21808
 gaaaatgtttatgttgcagggtattgcatggtcacgagtgagggcaggcccctggggaca       c.*540

          .         .         .         .         .         .       g.21868
 catctgcccacagctgcacaggccagggcgcaggcacatctgttggttctcaggcctcag       c.*600

          .         .         .         .         .         .       g.21928
 ataaaaccatctccgcatcatatggccagtgaccgctttctcccttcaagaaaattctgt       c.*660

          .         .         .         .         .         .       g.21988
 ggctgtgcagtactttgaagttttaattattaacctgctttaattaaagcagtttccttt       c.*720

          .         .         .         .         .         .       g.22048
 cttataaagtggaatcaccaaatcttatcacacagagcacagtcctgtagttacccagcc       c.*780

          .         .         .         .         .         .       g.22108
 cgctccagcagtgcgggagattgtaaggaagcggtggcggctggtgaagcaagtctcaca       c.*840

          .         .         .         .         .         .       g.22168
 tgtcggcgttcttggccaatggatacaaagataaagaaaatgttgcctttttctaggaac       c.*900

          .         .         .         .         .         .       g.22228
 tgtcagaaatcctcatgcctttcaagacttctgtgaatgacttgaattttttattccctg       c.*960

          .         .         .         .         .         .       g.22288
 cctagggtctgtgaacgaggcctgtctcttccctggggtttctttccatggcctttattt       c.*1020

          .         .         .         .         .         .       g.22348
 ctcctcttccagtgggagttttgcaggctcttctctgtggaaacttcacgagcgttggct       c.*1080

          .         .         .         .         .         .       g.22408
 gggcctcggcttcgctggagtgtactccagggtgaaggcagagtgggatttgagacccag       c.*1140

          .         .         .         .         .         .       g.22468
 gttaggcacgacccaggctgagaagggacgtttccatcattcacagtgccctccccacag       c.*1200

          .         .         .         .         .         .       g.22528
 cactacctcaccccgacccccaccctcactcctaccccaccccgcgatcgtcaggggtgc       c.*1260

          .         .         .         .         .         .       g.22588
 cacggtgggccggagggtgccggctctggctgtccctgtgccggtccctcacaaacctct       c.*1320

          .         .         .         .         .         .       g.22648
 ccccctttgaaactcaagcacagctgcgaggagggcagcgaggagggacccctctctcat       c.*1380

          .         .         .         .         .         .       g.22708
 ggttgtctctttcccccgctatgtcataggtagtggaggaagcgaaggaagtgaacgctg       c.*1440

          .         .         .         .         .         .       g.22768
 aatgtgacgcatttctgaagagctcagctgtcaccgggcatagcctggaagccccaagtc       c.*1500

          .         .         .         .         .         .       g.22828
 tgttctgactttgcctggctgtctccttgacccgcctcctagatcattgtccttgatgtc       c.*1560

          .         .         .         .         .         .       g.22888
 caggctgggtcatttaaaatagagatgcaatcaggaaggttgggggacttgggactgtgg       c.*1620

          .         .         .         .         .         .       g.22948
 ctgaattgagaccttgctgatgtattcatgtcagcacctgagtcacagcccaggtgcccg       c.*1680

          .         .         .         .         .         .       g.23008
 gaagcagcctcttcgcataggcagtgatttgcgattactttaaagctcaccttttttctt       c.*1740

          .         .         .         .         .         .       g.23068
 cccctctctgttcgctgctgtcagcataatgattgtgttccttccctatgggatccatct       c.*1800

          .         .         .                                     g.23102
 gttttgtaaacaataaagcgtctgagggagtgta                                 c.*1834

 (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 Calcium activated nucleotidase 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.