transmembrane protein 147 (TMEM147) - coding DNA reference sequence

(used for variant description)

(last modified October 14, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_032635.3 in the TMEM147 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering TMEM147 transcript NM_032635.3.

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

 (upstream sequence)
                                         .         .                g.5020
                                         cagaaggtcgcgcgcgggcc       c.-121

 .         .         .         .         .         .                g.5080
 cccgccagtcaggtgggtgccaggccctggccgtggcgaaagagccggcggagccggaga       c.-61

 .         .         .         .         .         .                g.5140
 cccgctcccggagacgccgcctcgcgatccccgcgcgggcgggaccgggcggccggcatc       c.-1

          .         .         .         .         .         .       g.5200
 ATGACCCTGTTTCACTTCGGGAACTGCTTCGCTCTTGCCTACTTCCCCTACTTCATCACC       c.60
 M  T  L  F  H  F  G  N  C  F  A  L  A  Y  F  P  Y  F  I  T         p.20

          .        | 02.         .         .         .         .    g.5331
 TACAAGTGCAGCGGCCT | GTCCGAGTACAACGCCTTCTGGAAATGCGTCCAGGCTGGAGTC    c.120
 Y  K  C  S  G  L  |  S  E  Y  N  A  F  W  K  C  V  Q  A  G  V      p.40

          .         .        | 03.         .         .         .    g.5959
 ACCTACCTCTTTGTCCAACTCTGCAAG | ATGCTGTTCTTGGCCACTTTCTTTCCCACCTGG    c.180
 T  Y  L  F  V  Q  L  C  K   | M  L  F  L  A  T  F  F  P  T  W      p.60

          .         .        | 04.         .         .         .    g.6105
 GAAGGCGGCATCTATGACTTCATTGGG | GAGTTCATGAAGGCCAGCGTGGATGTGGCAGAC    c.240
 E  G  G  I  Y  D  F  I  G   | E  F  M  K  A  S  V  D  V  A  D      p.80

          .         .         .         .         .         .       g.6165
 CTGATAGGTCTAAACCTTGTCATGTCCCGGAATGCCGGCAAGGGAGAGTACAAGATCATG       c.300
 L  I  G  L  N  L  V  M  S  R  N  A  G  K  G  E  Y  K  I  M         p.100

          .         .         .         .     | 05   .         .    g.6361
 GTTGCTGCCCTGGGCTGGGCCACTGCTGAGCTTATTATGTCCCG | CTGCATTCCCCTATGG    c.360
 V  A  A  L  G  W  A  T  A  E  L  I  M  S  R  |  C  I  P  L  W      p.120

          .         .         .         .         .         .       g.6421
 GTCGGAGCCCGGGGCATTGAGTTTGACTGGAAGTACATCCAGATGAGCATAGACTCCAAC       c.420
 V  G  A  R  G  I  E  F  D  W  K  Y  I  Q  M  S  I  D  S  N         p.140

           | 06        .         .         .         .         .    g.6570
 ATCAGTCTG | GTCCATTACATCGTCGCGTCTGCTCAGGTCTGGATGATAACACGCTATGAT    c.480
 I  S  L   | V  H  Y  I  V  A  S  A  Q  V  W  M  I  T  R  Y  D      p.160

          .         .         .         .         .         .       g.6630
 CTGTACCACACCTTCCGGCCAGCTGTCCTCCTGCTGATGTTCCTCAGTGTCTACAAGGCC       c.540
 L  Y  H  T  F  R  P  A  V  L  L  L  M  F  L  S  V  Y  K  A         p.180

          .  | 07      .         .         .         .         .    g.6773
 TTTGTTATGGA | GACCTTCGTCCACCTCTGCTCGCTGGGCAGTTGGGCAGCTCTACTGGCC    c.600
 F  V  M  E  |  T  F  V  H  L  C  S  L  G  S  W  A  A  L  L  A      p.200

          .         .         .         .         .         .       g.6833
 CGAGCAGTGGTAACGGGGCTGCTGGCCCTCAGCACTTTGGCCCTGTATGTCGCCGTTGTC       c.660
 R  A  V  V  T  G  L  L  A  L  S  T  L  A  L  Y  V  A  V  V         p.220

          .                                                         g.6848
 AATGTGCACTCCTAG                                                    c.675
 N  V  H  S  X                                                      p.224

          .         .         .         .         .         .       g.6908
 gcttggtgtctcagacattgatgtaccttttccctgcctcactccaggttttagtgaagt       c.*60

          .         .                                               g.6928
 aaacagtatttggaaagttg                                               c.*80

 (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 147 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.