transmembrane protein 127 (TMEM127) - coding DNA reference sequence

(used for variant description)

(last modified November 25, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_017849.3 in the TMEM127 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_027695.1, covering TMEM127 transcript NM_017849.3.

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

 (upstream sequence)
                               .         .         .                g.5036
                         agaggaggaggaagccggaagtgcatcggccccggg       c.-241

 .         .         .         .         .         .                g.5096
 tctgtccgggcgttgcgggattggggcctgggaacgctcggcccccggcagccgagaagc       c.-181

 .         .         .         .         .         | 02             g.5512
 ccgtgactgggctgagcagcaccatcccagccctggggcctgctgactg | cccagtcccgg    c.-121

 .         .         .         .         .         .                g.5572
 cttcacctgcagcgaacccggagcgttgctatcctccaccggactgtcaggctctgcgcg       c.-61

 .         .         .         .         .         .                g.5632
 ccccgcggaggtcggcggcgaccagcagcgactgcggagcgacggcgggcggccccgggc       c.-1

          .         .         .         .         .         .       g.5692
 ATGTACGCCCCCGGAGGCGCAGGGCTGCCCGGCGGGCGCCGGCGGAGGAGCCCGGGAGGC       c.60
 M  Y  A  P  G  G  A  G  L  P  G  G  R  R  R  R  S  P  G  G         p.20

          .         .         .         .         .         .       g.5752
 AGCGCTCTGCCCAAGCAGCCGGAGCGTAGCCTGGCCTCGGCCCTGCCTGGCGCCCTGTCT       c.120
 S  A  L  P  K  Q  P  E  R  S  L  A  S  A  L  P  G  A  L  S         p.40

          .         .         .         .         .         .       g.5812
 ATCACGGCGCTGTGCACTGCCCTCGCCGAGCCCGCCTGGTTGCACATCCACGGAGGCACC       c.180
 I  T  A  L  C  T  A  L  A  E  P  A  W  L  H  I  H  G  G  T         p.60

          .         .         .         .         .         .       g.5872
 TGTTCGCGCCAGGAGCTGGGGGTCTCCGACGTGTTGGGCTATGTGCACCCGGACCTGCTG       c.240
 C  S  R  Q  E  L  G  V  S  D  V  L  G  Y  V  H  P  D  L  L         p.80

      | 03   .         .         .         .         .         .    g.16072
 AAAG | ATTTCTGCATGAATCCCCAGACAGTGCTGCTCCTGCGGGTCATCGCCGCCTTCTGT    c.300
 K  D |   F  C  M  N  P  Q  T  V  L  L  L  R  V  I  A  A  F  C      p.100

          .         .         .         .         .         .       g.16132
 TTCCTGGGCATCCTGTGTAGTCTCTCCGCTTTCCTTCTGGATGTCTTTGGGCCGAAGCAT       c.360
 F  L  G  I  L  C  S  L  S  A  F  L  L  D  V  F  G  P  K  H         p.120

          .         .         .         .          | 04        .    g.16909
 CCTGCTCTGAAGATCACTCGTCGCTATGCCTTCGCCCATATCCTAACGG | TTCTGCAGTGT    c.420
 P  A  L  K  I  T  R  R  Y  A  F  A  H  I  L  T  V |   L  Q  C      p.140

          .         .         .         .         .         .       g.16969
 GCCACCGTCATTGGCTTTTCTTATTGGGCTTCTGAACTCATCTTGGCCCAGCAGCAGCAG       c.480
 A  T  V  I  G  F  S  Y  W  A  S  E  L  I  L  A  Q  Q  Q  Q         p.160

          .         .         .         .         .         .       g.17029
 CATAAGAAGTACCATGGATCCCAGGTCTATGTCACCTTCGCCGTTAGCTTCTACCTGGTG       c.540
 H  K  K  Y  H  G  S  Q  V  Y  V  T  F  A  V  S  F  Y  L  V         p.180

          .         .         .         .         .         .       g.17089
 GCAGGAGCTGGTGGAGCCTCAATCCTGGCCACGGCAGCCAACCTCCTGCGCCACTACCCC       c.600
 A  G  A  G  G  A  S  I  L  A  T  A  A  N  L  L  R  H  Y  P         p.200

          .         .         .         .         .         .       g.17149
 ACAGAGGAAGAGGAGCAGGCGCTGGAGCTGCTCTCAGAGATGGAAGAGAACGAGCCCTAC       c.660
 T  E  E  E  E  Q  A  L  E  L  L  S  E  M  E  E  N  E  P  Y         p.220

          .         .         .         .         .                 g.17206
 CCGGCGGAATATGAGGTCATCAACCAGTTCCAGCCACCCCCTGCTTACACACCCTAA          c.717
 P  A  E  Y  E  V  I  N  Q  F  Q  P  P  P  A  Y  T  P  X            p.238

          .         .         .         .         .         .       g.17266
 tgccagccctgggctctcttcctcggcagcccctccctcaactctgcagctcctctcgca       c.*60

          .         .         .         .         .         .       g.17326
 cccagaggagctcctttccccagcaggcctcactggtaggatcctgaccatcttctccaa       c.*120

          .         .         .         .         .         .       g.17386
 accttccccaggagagactctgcctttagggtcatccaagtatccctgctctcagaaccg       c.*180

          .         .         .         .         .         .       g.17446
 gaggtccactggttttctataatgtactctttccctcctgccacatcctgcccccttcac       c.*240

          .         .         .         .         .         .       g.17506
 attcacgagtcattaccagccagggaaggtcatccaagtttcctccagcatgggcgatat       c.*300

          .         .         .         .         .         .       g.17566
 ctttgggaccgagactttccttggagagctgctgagagcggacagtcccaaaaacaagtg       c.*360

          .         .         .         .         .         .       g.17626
 tcaaagggcccaagggaaaggggactgtgccctggaggctcacttcacagggatcagtgt       c.*420

          .         .         .         .         .         .       g.17686
 ttgctccacagctgtagctctgggctgacgccccccagaccccttccttctcggagtgac       c.*480

          .         .         .         .         .         .       g.17746
 ccgcccccaggccacctgctccggggagttctgtgcactttactctttggacttctcctc       c.*540

          .         .         .         .         .         .       g.17806
 acgtgtgccctggttttatggggagagggaatcgctgttgggaaggcagagcagttgcaa       c.*600

          .         .         .         .         .         .       g.17866
 ccctctctgcccttgcttcatgtggctggagcccaggcaaggagagcaggagccagcgtg       c.*660

          .         .         .         .         .         .       g.17926
 agactgaggccccctggtgcctatcaaggaccagagtgaaggggactacatctcccagcc       c.*720

          .         .         .         .         .         .       g.17986
 cttcaccttttaaatatgagtggttttaaaaggaaaaaaatgaaaccaggcaacagcaac       c.*780

          .         .         .         .         .         .       g.18046
 aatattctgtttttaaaatagggacaagactgttgtcactttttagacatgtatcccatt       c.*840

          .         .         .         .         .         .       g.18106
 ccttttggctctgcaatatttggggctgtagctccttccaagcccatggtagtccctccc       c.*900

          .         .         .         .         .         .       g.18166
 cgagtctctcccagtagaatgcagcctcccttccctggccccttccctctcagtgacggt       c.*960

          .         .         .         .         .         .       g.18226
 gactccctggggccttctcgtggaacccagaggggctgaggactgtggcctggctggcgg       c.*1020

          .         .         .         .         .         .       g.18286
 gccagcgtggtgctcctcaggactgcagcactgagatggaacctggcctcagtttaggaa       c.*1080

          .         .         .         .         .         .       g.18346
 caggggccacaacagggcaggaacccaccaccctccacataggaatacaaccagtggggc       c.*1140

          .         .         .         .         .         .       g.18406
 cacatcatgtgaggcatcagacccacactgtcagcccagcaggccgggctgtgtccttca       c.*1200

          .         .         .         .         .         .       g.18466
 gacccagtgctgccctagactctgactcgggactccagcttgccacgtgccctctcccct       c.*1260

          .         .         .         .         .         .       g.18526
 cttgaatgtactctggtcttgcagtgtgctgctgggactttcttgctcagccatcactct       c.*1320

          .         .         .         .         .         .       g.18586
 ggtcaccttgtttgctctgggtctggctgaattttctgccctgagatctgggcataaagt       c.*1380

          .         .         .         .         .         .       g.18646
 ggatgaaacttgaaagaccttcagtgtagatccagatggccaacctgtccttgttaagtt       c.*1440

          .         .         .         .         .         .       g.18706
 acttgcttcttgggaatcagtgtcccctgctgagctgaaaaggaaatggattccaatctc       c.*1500

          .         .         .         .         .         .       g.18766
 ttccaacctttaaggtgatagatagtttgagcaagactggagaatggacaacactatgaa       c.*1560

          .         .         .         .         .         .       g.18826
 gctgtggctagaaagggactgtcatgtcccatcctttggccagattgactggggatgtcc       c.*1620

          .         .         .         .         .         .       g.18886
 ggacagatgcctgcatgggtggtgagggccacatctgcacacgagccagtggctgcttgc       c.*1680

          .         .         .         .         .         .       g.18946
 agttcactgctgtgatgccagagtgtgttcaaaggtgactctcctgctcttctggactct       c.*1740

          .         .         .         .         .         .       g.19006
 tctctcaggcaagaaaggctgcaggctgcctgctatgtgatgcctgagcacaaagccaag       c.*1800

          .         .         .         .         .         .       g.19066
 gaactgaactaagtctttctgttaagtcctgagtttgtcattggcaggtttacttgtggc       c.*1860

          .         .         .         .         .         .       g.19126
 cagctctctctgcccttgggtgtctgagcaggcagaccagaagaccaggcactggacctg       c.*1920

          .         .         .         .         .         .       g.19186
 catgccaaagggactggtcatctcctgaggacctgtaaatgaccctgtggactgttccgc       c.*1980

          .         .         .         .         .         .       g.19246
 acgatccggaacccactttttattcactccccatgtctttggccttcctcttctttctct       c.*2040

          .         .         .         .         .         .       g.19306
 ttccctctgccatcctgacactgatagtttgtcatataaattccccgggttgtgtttttt       c.*2100

          .         .         .         .         .         .       g.19366
 tttctagaaaaaaattaaaagggaaaacaaaaccaaaaaaaccagaaaccacgaataaga       c.*2160

          .         .         .         .         .         .       g.19426
 atggaaatgacaatggctgcctgtcatttttctgtcacgattttcctgatttggtttgtt       c.*2220

          .         .         .         .         .         .       g.19486
 ccctttgtctcagagaagcaggagatgttgatgaggctgtatttttttttctttttcttg       c.*2280

          .         .         .         .         .         .       g.19546
 tttttgagacaagagtctcgctctgtcacccgggctggagtgtaacgtggcatgatctca       c.*2340

          .         .         .         .         .         .       g.19606
 gctcactgcaacctctgcctcctgggttcaagcgattatcctgcctcagcctcctgagta       c.*2400

          .         .         .         .         .         .       g.19666
 gctgggattacaggcatgcgccactatgcccagataatttttttgtatttttagtagaga       c.*2460

          .         .         .         .         .         .       g.19726
 cagggtttcaccatgttggccaggctggtctggaactcctaacctcaggttatccaccca       c.*2520

          .         .         .         .         .         .       g.19786
 ccttggcctcccaaagtgctgggattataggcatgaaccaccgtgcctggccaaagatgt       c.*2580

          .         .         .         .         .         .       g.19846
 aatttaaaatagttagaagggacttggcatgggccagctccgtgcatggcattttcaccc       c.*2640

          .         .         .         .         .         .       g.19906
 ccagagcttcctaatcctgttttcacacaggaagtttctaggtctttctagaacagctag       c.*2700

          .         .         .         .         .         .       g.19966
 aaatagtagctgactcccgcccaaggcccaaccttcaaaccctgagctcttcaggctgca       c.*2760

          .         .         .         .         .         .       g.20026
 tcctctggtgagctatagaggagaacgtggctcctaaactctagccatcctgtgggagga       c.*2820

          .         .         .         .         .         .       g.20086
 aatagacttctttgggctgtggcttgcagaacaaactacactttttttccctctattgtt       c.*2880

          .         .         .         .         .         .       g.20146
 taaattttatttaataatttgtgtgtttttctgtctttattttctgtatttcacgtgttc       c.*2940

          .         .         .         .         .         .       g.20206
 cttcactccctagaaactgcactttctttgaaaccataggtaatgaatcttactaggaga       c.*3000

          .         .         .         .         .         .       g.20266
 ggcatggggatagagacagttctgggagtgtgacctgtaagcctcctgtagggcagtgcc       c.*3060

          .         .         .         .         .         .       g.20326
 aggccttgattgcccacgttctctccgttccttcttccttcatacatttgatcacacagc       c.*3120

          .         .         .         .         .         .       g.20386
 ctacacccagccccgagtgtgcatcacggtaaaagagctgagggctctcttcagggagca       c.*3180

          .         .         .         .         .         .       g.20446
 gcccatttaggtctcttttgttgttgttagggagaatacacatctttcttggaagctggg       c.*3240

          .         .         .         .         .         .       g.20506
 agtgtgttctcatttcatgtccattcagacaaagcaccattaggcaccatgaaatataca       c.*3300

          .         .         .         .         .         .       g.20566
 gtgacggacaggaccctgtctgcaaggattttatgtccttagttcaggagatggacttgt       c.*3360

          .         .         .         .         .         .       g.20626
 ccacagaaaggcagagtgaagtgggcggccggctcggaaaagtcctgtgcccagaaggga       c.*3420

          .         .         .         .         .         .       g.20686
 gccagttctgacctgagtgataatgaaaggcttcctggaggacgcagcttgagccacact       c.*3480

          .         .         .         .         .         .       g.20746
 tgatgtgggagtgaactgggatagggacactcctgctgagagaatggcaagagcaaaagc       c.*3540

          .         .         .         .         .         .       g.20806
 acactggtggccaggaggtggtaagagccgaggttagaaaggtgaggggtgctcatttaa       c.*3600

 

 (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 Transmembrane protein 127 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.