chromosome 19 open reading frame 12 (C19orf12) - coding DNA reference sequence

(used for variant description)

(last modified January 29, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_001256047.1 in the C19orf12 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering C19orf12 transcript NM_001256047.1.

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

 (upstream sequence)
           .         .         .         .         .                g.5057
    acccaacctgcttctccttttgcaacccccagacccagaggctccagagcaggctct       c.-181

 .         .         .         .         .         .                g.5117
 ggaacagaggaaatctggctccggcccacacattcaccaaatactgacgcagcacccttg       c.-121

 .         .         .         .         .         .                g.5177
 acctccagatgcccctgtgctctcttctgtgcccaggctgcggggagagaggggtcctcc       c.-61

 .         .         .         .         .          | 02            g.12376
 aggccaaagggagggaggtctccgggaggtccccgcggtcctggaggcag | gcccgccacg    c.-1

          .         .         .         .         .         .       g.12436
 ATGACTATCATGGTGGAGGACATCATGAAGCTGCTGTGCTCCCTTTCTGGGGAGAGGAAG       c.60
 M  T  I  M  V  E  D  I  M  K  L  L  C  S  L  S  G  E  R  K         p.20

          .         .         .         .         .         .       g.12496
 ATGAAGGCGGCTGTCAAGCACTCTGGGAAGGGTGCCCTGGTCACAGGGGCCATGGCCTTC       c.120
 M  K  A  A  V  K  H  S  G  K  G  A  L  V  T  G  A  M  A  F         p.40

          .         .         .         . | 03       .         .    g.17832
 GTCGGGGGTTTGGTGGGCGGCCCACCGGGACTCGCCGTTG | GGGGGGCTGTCGGGGGGCTG    c.180
 V  G  G  L  V  G  G  P  P  G  L  A  V  G |   G  A  V  G  G  L      p.60

          .         .         .         .         .         .       g.17892
 TTAGGTGCCTGGATGACAAGTGGACAGTTTAAGCCGGTTCCTCAGATCCTAATGGAGCTG       c.240
 L  G  A  W  M  T  S  G  Q  F  K  P  V  P  Q  I  L  M  E  L         p.80

          .         .         .         .         .         .       g.17952
 CCCCCTGCCGAGCAACAGAGGCTCTTTAACGAAGCCGCAGCCATCATCAGGCACCTGGAG       c.300
 P  P  A  E  Q  Q  R  L  F  N  E  A  A  A  I  I  R  H  L  E         p.100

          .         .         .         .         .         .       g.18012
 TGGACGGACGCCGTGCAGCTGACCGCGCTGGTCATGGGCAGCGAGGCCCTGCAGCAGCAG       c.360
 W  T  D  A  V  Q  L  T  A  L  V  M  G  S  E  A  L  Q  Q  Q         p.120

          .         .         .         .         .         .       g.18072
 CTGCTGGCCATGCTGGTGAACTACGTCACCAAGGAGCTGCGGGCCGAGATCCAGTATGAT       c.420
 L  L  A  M  L  V  N  Y  V  T  K  E  L  R  A  E  I  Q  Y  D         p.140

                                                                    g.18078
 GACTAG                                                             c.426
 D  X                                                               p.141

          .         .         .         .         .         .       g.18138
 gccgcacctccggggaggtggggggcccctttaaatgactctgtgattctgaagaggtgg       c.*60

          .         .         .         .         .         .       g.18198
 cttgggagttgggagaagcccagcggatgccccctggggaatctccacatcatcagtgta       c.*120

          .         .         .         .         .         .       g.18258
 ttactagtaatgtcccgctggagaggccaccgctgtgcagtgtcatgttccagaaattac       c.*180

          .         .         .         .         .         .       g.18318
 tgatgaagcagcatgtgttggtggcatgtgcactggcctgccatgacagccctctgactg       c.*240

          .         .         .         .         .         .       g.18378
 gccccccagtgaagagtaaaggcctgcctgccgcaggcttcggaggcgtctgctgagtcc       c.*300

          .         .         .         .         .         .       g.18438
 tctcacccgcatgggtctggggaagtgatcacgctcagccgacggtctgaccacacttca       c.*360

          .         .         .         .         .         .       g.18498
 tcctccccccggggccttctcatcttgggagatgactcctcttcagagcacctgctgcag       c.*420

          .         .         .         .         .         .       g.18558
 gactggatcccacccccctgcaggtcctggggtctcagggccttggagcagcccatgctg       c.*480

          .         .         .         .         .         .       g.18618
 gaatcatgtttacctcctagtgcaaccgtcccctacccagggactgtcgaatggccccac       c.*540

          .         .         .         .         .         .       g.18678
 ggaggggacgggcggcctgctgagtgaagccacaaataccgagtggacttgaccccggcc       c.*600

          .         .         .         .         .         .       g.18738
 cccactaggctgcacacctagactcgccctgccagggcctcgctcttcccatctgaaaag       c.*660

          .         .         .         .         .         .       g.18798
 tcctggtagttcttgaggtttacttctcaaatgaaatatttttagtaaaaagtacaggta       c.*720

          .         .         .         .         .         .       g.18858
 tatctcggagatattgtgggttcagttccagaccacctcggtaaagccaacatcacaata       c.*780

          .         .         .         .         .         .       g.18918
 aagcaaggaagcgcattgttttagtttcccagtgcatctaagtcatgtttactgcatatt       c.*840

          .         .         .         .         .         .       g.18978
 gcagtccactaaatgtgcaatagcattatgtctaacaaatgtacaaaccttaatttaaaa       c.*900

          .         .         .         .         .         .       g.19038
 atatttactgttcaaaatgctgacacagaaacgcaaagtgagcacatgctgttggaaaat       c.*960

          .         .         .         .         .         .       g.19098
 ggtgccaaatagacttgcctgatgccaggctgctacaaaccttcaatttaaaaaaaaaac       c.*1020

          .         .         .         .         .         .       g.19158
 acagtattcacaaagcatagtagaatgaggtatgcctgtattgctctttctgaagtggtg       c.*1080

          .         .         .         .         .         .       g.19218
 tgatataaaccatctctaagaaatgtttctaccctaaagatttccccagtacagtcagct       c.*1140

          .         .         .         .         .         .       g.19278
 ctccgtaactgtggtctccacatttagatccaaccagccttggataggaaatatttgaaa       c.*1200

          .         .         .         .         .         .       g.19338
 aaagaaattgcattggtactgaacacgtacagacctttttttcttgccattattccctaa       c.*1260

          .         .         .         .         .         .       g.19398
 acaatatggtgtagcatatttacatagcatttatattgtatttggtattataagaaatct       c.*1320

          .         .         .         .         .         .       g.19458
 agagatgatttaaattatacaggaaggtgtgcgtaggttacgtgcaaacgctatgccatt       c.*1380

          .         .         .         .         .         .       g.19518
 gcccatcagggacttgagcatcctcagatgtcggtgtctgagggttgaggttgcagtcct       c.*1440

          .         .         .         .         .         .       g.19578
 ggaacccatcccccatggatactgaggcatagctgtactgtgtgttttcactttgctttc       c.*1500

          .         .         .         .         .         .       g.19638
 agaactacgacttgaatgtgatcgattacaataaatgtttttctaaaaagccattttccc       c.*1560

          .         .         .         .         .         .       g.19698
 acatattatgtgtaaaatatctctaatattcaaagtcttacaaatggaacaagagggaag       c.*1620

          .         .         .         .         .         .       g.19758
 gtaccagatttgtggctttaaagaatgcaagagtaggtcaggtgaggtggctcatgcttg       c.*1680

          .         .         .         .         .         .       g.19818
 taatgtcggcacttttggaggccaaagtgggaggatcgcttgaggccaagagtttgaaac       c.*1740

          .         .         .         .         .         .       g.19878
 tagcctgggcaatatagtgagacctccatctctacaaaaaatgttattccttggtcccca       c.*1800

          .         .         .         .         .         .       g.19938
 ggtcctggggcagggcagggacttggggctctcctctcaggccctggaggctcggaggga       c.*1860

          .         .         .         .         .         .       g.19998
 ggcacttctgctgaggccctgcttataggaaagctcagtatcctggcacctccatgtgtg       c.*1920

          .         .         .         .         .         .       g.20058
 taaggacgtcagggtgaattataacccatggtgattaaggaagggccgagcctttctctt       c.*1980

          .         .         .         .         .         .       g.20118
 gcagagcgattgctcttctgctggcctcgtctagcacaaatcaggtgccctagcacaggc       c.*2040

          .         .         .         .         .         .       g.20178
 cacactcctggagttaatgaagccactttaatcatttatatgccacttaagttgatgggg       c.*2100

          .         .         .         .         .         .       g.20238
 gacagggcaggggtgggaaggaggggttgtctgtctgtgaaaactgagtgtggcttttct       c.*2160

          .         .         .         .         .         .       g.20298
 tgttgaactgatcattcctgctcttcctgcaaataagtcctgcatacggaccctggaact       c.*2220

          .         .         .         .         .         .       g.20358
 aaaaatggaaaatcagagcatgccccctcccaattttgtatagctttagtgggctctaaa       c.*2280

          .         .         .         .         .         .       g.20418
 gttgcccgtttttagtgtgaaggaaaaaacgttgatttgcagatatcgtgagaatgaaac       c.*2340

          .         .         .         .         .         .       g.20478
 ctcaacaaagatgtttggttcagtgcttcaaagttgggggacactttttccatgttgaac       c.*2400

          .         .         .         .         .         .       g.20538
 aaatgccaacttctccggttgcttacagcaaatccttctggaacaatcggggctgaaatt       c.*2460

          .         .         .         .         .         .       g.20598
 gagttgcctttgttaggcgattgggccccattcattcttactcgtgcatcaggtcctggt       c.*2520

          .         .         .         .         .         .       g.20658
 ctgtgtcaggcccaggggacacaggtggtcccagctcagaggcccagtgtccactgcagc       c.*2580

          .         .         .         .         .         .       g.20718
 ccctcccacagcctgcccacccctactgcagggaaaaatgcccagggaggagatggtcca       c.*2640

          .         .         .         .         .         .       g.20778
 actcctgatcagttttgtgtccgatggagcaggccttgctgagtgaagacactggaacta       c.*2700

          .         .         .         .         .         .       g.20838
 gctgggtcctggggtgacttggaggctttgggcctaaaagggcagcctgaacctggagtc       c.*2760

          .         .         .         .         .         .       g.20898
 ttatctcccccaggagccgaaagcacttttcttgatttcccccaggaaatcaagcgctgc       c.*2820

          .         .         .         .         .         .       g.20958
 ttctcagctcctgtggttttagtatttatatatctgtatcttctttgtagaaatttattt       c.*2880

          .         .         .         .         .         .       g.21018
 atttttgaataagtaatacctgcctggtacaaaatttaaaaggtacgggagggcgcaagc       c.*2940

          .         .         .         .         .         .       g.21078
 tgcaagggaaggcctgctcctatgccgaccccagaggcagccactgttaccaatttcatg       c.*3000

          .         .         .         .         .         .       g.21138
 tgtattcctttaactctgttttaaagtaagtctctgaaaactgttcatttccttttgtca       c.*3060

          .         .         .         .         .         .       g.21198
 gtatttgttgctgaaaacctagaaaaacccagaaaatataatgaaataaaaactacaaat       c.*3120

          .         .         .         .         .         .       g.21258
 ttcacaacccagaaaactgctggtaacagatttggtgtctttcctgcaattgttttaatg       c.*3180

          .         .         .         .         .         .       g.21318
 ctatgtaggtacacatatatttttttctttttttcttttttttttttttgagatggagtc       c.*3240

          .         .         .         .         .         .       g.21378
 tcgcactgtcgcccgggctggagtgcagtagcgcgatcttggttcactgcaagctctgcc       c.*3300

          .         .         .         .         .         .       g.21438
 tcctgggttcaagccattctcctgcctcagcctcccgagtagctttgactacagtcgccc       c.*3360

          .         .         .         .         .         .       g.21498
 gccaccatgcccggctaatttttatttttttattttttttttatttttagtagagacggg       c.*3420

          .         .         .         .         .         .       g.21558
 gtttcaccatgttagccaggatggtctcaatctccttacctcgtgatctgcccacctcag       c.*3480

          .         .         .         .         .         .       g.21618
 cctcccaaagtgctgggattacaggcgtgagccactgcgcccggcctatgtatgtatatt       c.*3540

          .         .         .         .         .         .       g.21678
 tctaacgtacttgccttcttatcctatatgcccctttgaacacctgtatcaatgaatgtt       c.*3600

          .         .         .         .         .         .       g.21738
 aaataatatttttgatgtaatttaaaattccttgtaaatatttgtaatggctgcataata       c.*3660

          .         .         .         .         .         .       g.21798
 ttccactgtgcctaaccatgtgcctggtgtgaattccatttgtggatttttactactgta       c.*3720

          .         .         .         .         .         .       g.21858
 atgctgaagtattacagtaatactgtgttaatattctctttattgaattctggtatatag       c.*3780

          .         .         .         .                           g.21904
 tctttgggattcattcctcaaagtgaaattgctggatttaaaagta                     c.*3826

 (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 Chromosome 19 open reading frame 12 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.