thrombopoietin (THPO) - coding DNA reference sequence

(used for variant description)

(last modified September 1, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_000460.2 in the THPO gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering THPO transcript NM_000460.2.

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

 (upstream sequence)
                               .         .         .                g.5035
                          tcttcctacccatctgctccccagagggctgcctg       c.-181

 .         .         .         .     | 02   .         .             g.6765
 ctgtgcacttgggtcctggagcccttctccacccg | gatagattcttcacccttggcccgc    c.-121

 .         .         .         .         .         .                g.6825
 ctttgccccaccctactctgcccagaagtgcaagagcctaagccgcctccatggccccag       c.-61

 .         .         .         .         .         .                g.6885
 gaaggattcaggggagaggccccaaacagggagccacgccagccagacaccccggccaga       c.-1

          .    | 03    .         .         .         .         .    g.7176
 ATGGAGCTGACTG | AATTGCTCCTCGTGGTCATGCTTCTCCTAACTGCAAGGCTAACGCTG    c.60
 M  E  L  T  E |   L  L  L  V  V  M  L  L  L  T  A  R  L  T  L      p.20

          .         .         .         .         .         .       g.7236
 TCCAGCCCGGCTCCTCCTGCTTGTGACCTCCGAGTCCTCAGTAAACTGCTTCGTGACTCC       c.120
 S  S  P  A  P  P  A  C  D  L  R  V  L  S  K  L  L  R  D  S         p.40

          .         .  | 04      .         .         .         .    g.7582
 CATGTCCTTCACAGCAGACTG | AGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTC    c.180
 H  V  L  H  S  R  L   | S  Q  C  P  E  V  H  P  L  P  T  P  V      p.60

          .         .         .         .         | 05         .    g.9574
 CTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATG | GAGGAGACCAAG    c.240
 L  L  P  A  V  D  F  S  L  G  E  W  K  T  Q  M   | E  E  T  K      p.80

          .         .         .         .         .         .       g.9634
 GCACAGGACATTCTGGGAGCAGTGACCCTTCTGCTGGAGGGAGTGATGGCAGCACGGGGA       c.300
 A  Q  D  I  L  G  A  V  T  L  L  L  E  G  V  M  A  A  R  G         p.100

          .         .         .         .         .         .       g.9694
 CAACTGGGACCCACTTGCCTCTCATCCCTCCTGGGGCAGCTTTCTGGACAGGTCCGTCTC       c.360
 Q  L  G  P  T  C  L  S  S  L  L  G  Q  L  S  G  Q  V  R  L         p.120

          .         .         .       | 06 .         .         .    g.9990
 CTCCTTGGGGCCCTGCAGAGCCTCCTTGGAACCCAG | CTTCCTCCACAGGGCAGGACCACA    c.420
 L  L  G  A  L  Q  S  L  L  G  T  Q   | L  P  P  Q  G  R  T  T      p.140

          .         .         .         .         .         .       g.10050
 GCTCACAAGGATCCCAATGCCATCTTCCTGAGCTTCCAACACCTGCTCCGAGGAAAGGTG       c.480
 A  H  K  D  P  N  A  I  F  L  S  F  Q  H  L  L  R  G  K  V         p.160

          .         .         .         .         .         .       g.10110
 CGTTTCCTGATGCTTGTAGGAGGGTCCACCCTCTGCGTCAGGCGGGCCCCACCCACCACA       c.540
 R  F  L  M  L  V  G  G  S  T  L  C  V  R  R  A  P  P  T  T         p.180

          .         .         .         .         .         .       g.10170
 GCTGTCCCCAGCAGAACCTCTCTAGTCCTCACACTGAACGAGCTCCCAAACAGGACTTCT       c.600
 A  V  P  S  R  T  S  L  V  L  T  L  N  E  L  P  N  R  T  S         p.200

          .         .         .         .         .         .       g.10230
 GGATTGTTGGAGACAAACTTCACTGCCTCAGCCAGAACTACTGGCTCTGGGCTTCTGAAG       c.660
 G  L  L  E  T  N  F  T  A  S  A  R  T  T  G  S  G  L  L  K         p.220

          .         .         .         .         .         .       g.10290
 TGGCAGCAGGGATTCAGAGCCAAGATTCCTGGTCTGCTGAACCAAACCTCCAGGTCCCTG       c.720
 W  Q  Q  G  F  R  A  K  I  P  G  L  L  N  Q  T  S  R  S  L         p.240

          .         .         .         .         .         .       g.10350
 GACCAAATCCCCGGATACCTGAACAGGATACACGAACTCTTGAATGGAACTCGTGGACTC       c.780
 D  Q  I  P  G  Y  L  N  R  I  H  E  L  L  N  G  T  R  G  L         p.260

          .         .         .         .         .         .       g.10410
 TTTCCTGGACCCTCACGCAGGACCCTAGGAGCCCCGGACATTTCCTCAGGAACATCAGAC       c.840
 F  P  G  P  S  R  R  T  L  G  A  P  D  I  S  S  G  T  S  D         p.280

          .         .         .         .         .         .       g.10470
 ACAGGCTCCCTGCCACCCAACCTCCAGCCTGGATATTCTCCTTCCCCAACCCATCCTCCT       c.900
 T  G  S  L  P  P  N  L  Q  P  G  Y  S  P  S  P  T  H  P  P         p.300

          .         .         .         .         .         .       g.10530
 ACTGGACAGTATACGCTCTTCCCTCTTCCACCCACCTTGCCCACCCCTGTGGTCCAGCTC       c.960
 T  G  Q  Y  T  L  F  P  L  P  P  T  L  P  T  P  V  V  Q  L         p.320

          .         .         .         .         .         .       g.10590
 CACCCCCTGCTTCCTGACCCTTCTGCTCCAACGCCCACCCCTACCAGCCCTCTTCTAAAC       c.1020
 H  P  L  L  P  D  P  S  A  P  T  P  T  P  T  S  P  L  L  N         p.340

          .         .         .         .                           g.10632
 ACATCCTACACCCACTCCCAGAATCTGTCTCAGGAAGGGTAA                         c.1062
 T  S  Y  T  H  S  Q  N  L  S  Q  E  G  X                           p.353

          .         .         .         .         .         .       g.10692
 ggttctcagacactgccgacatcagcattgtctcgtgtacagctcccttccctgcagggc       c.*60

          .         .         .         .         .         .       g.10752
 gcccctgggagacaactggacaagatttcctactttctcctgaaacccaaagccctggta       c.*120

          .         .         .         .         .         .       g.10812
 aaagggatacacaggactgaaaagggaatcatttttcactgtacattataaaccttcaga       c.*180

          .         .         .         .         .         .       g.10872
 agctatttttttaagctatcagcaatactcatcagagcagctagctctttggtctatttt       c.*240

          .         .         .         .         .         .       g.10932
 ctgcagaaatttgcaactcactgattctctacatgctctttttctgtgataactctgcaa       c.*300

          .         .         .         .         .         .       g.10992
 aggcctgggctggcctggcagttgaacagagggagagactaaccttgagtcagaaaacag       c.*360

          .         .         .         .         .         .       g.11052
 agaaagggtaatttcctttgcttcaaattcaaggccttccaacgcccccatcccctttac       c.*420

          .         .         .         .         .         .       g.11112
 tatcattctcagtgggactctgatcccatattcttaacagatctttactcttgagaaatg       c.*480

          .         .         .         .                           g.11160
 aataagctttctctcagaaatgctgtccctatacactagacaaaactg                   c.*528

 (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 Thrombopoietin 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.