B-cell translocation gene 1, anti-proliferative (BTG1) - coding DNA reference sequence

(used for variant description)

(last modified June 18, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_001731.2 in the BTG1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering BTG1 transcript NM_001731.2.

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

 (upstream sequence)
                                                                    g.5002
                                                           ac       c.-361

 .         .         .         .         .         .                g.5062
 ttccttttcgtggcactataaagggtgctgcacggcgcttgcatctcttcgcctctcgga       c.-301

 .         .         .         .         .         .                g.5122
 gctggaaatgcagctattgagatcttcgaatgctgcggagctggaggcggaggcagctgg       c.-241

 .         .         .         .         .         .                g.5182
 ggaggtccgagcgatgtgaccaggccgccatcgctcgtctcttcctctctcctgccgcct       c.-181

 .         .         .         .         .         .                g.5242
 cctgtctcgaaaataacttttttagtctaaagaaagaaagacaaaagtagtcgtccgccc       c.-121

 .         .         .         .         .         .                g.5302
 ctcacgccctctcttcctctcagccttccgcccggtgaggaagcccggggtggctgctcc       c.-61

 .         .         .         .         .         .                g.5362
 gccgtcggggccgcgccgccgagccccagccgccccgggccgcccccgcacgccgccccc       c.-1

          .         .         .         .         .         .       g.5422
 ATGCATCCCTTCTACACCCGGGCCGCCACCATGATAGGCGAGATCGCCGCCGCCGTGTCC       c.60
 M  H  P  F  Y  T  R  A  A  T  M  I  G  E  I  A  A  A  V  S         p.20

          .         .         .         .         .         .       g.5482
 TTCATCTCCAAGTTTCTCCGCACCAAGGGGCTCACGAGCGAGCGACAGCTGCAGACCTTC       c.120
 F  I  S  K  F  L  R  T  K  G  L  T  S  E  R  Q  L  Q  T  F         p.40

          .         .         | 02         .         .         .    g.6482
 AGCCAGAGCCTGCAGGAGCTGCTGGCAG | AACATTATAAACATCACTGGTTCCCAGAAAAG    c.180
 S  Q  S  L  Q  E  L  L  A  E |   H  Y  K  H  H  W  F  P  E  K      p.60

          .         .         .         .         .         .       g.6542
 CCATGCAAGGGATCGGGTTACCGTTGTATTCGCATCAACCATAAAATGGATCCTCTGATT       c.240
 P  C  K  G  S  G  Y  R  C  I  R  I  N  H  K  M  D  P  L  I         p.80

          .         .         .         .         .         .       g.6602
 GGACAGGCAGCACAGCGGATTGGACTGAGCAGTCAGGAGCTGTTCAGGCTTCTCCCAAGT       c.300
 G  Q  A  A  Q  R  I  G  L  S  S  Q  E  L  F  R  L  L  P  S         p.100

          .         .         .         .         .         .       g.6662
 GAACTCACACTCTGGGTTGACCCCTATGAAGTGTCCTACAGAATTGGAGAGGATGGCTCC       c.360
 E  L  T  L  W  V  D  P  Y  E  V  S  Y  R  I  G  E  D  G  S         p.120

          .         .         .         .         .         .       g.6722
 ATCTGTGTGCTGTATGAAGCCTCACCAGCAGGAGGTAGCACTCAAAACAGCACCAACGTG       c.420
 I  C  V  L  Y  E  A  S  P  A  G  G  S  T  Q  N  S  T  N  V         p.140

          .         .         .         .         .         .       g.6782
 CAAATGGTAGACAGCCGAATCAGCTGTAAGGAGGAACTTCTCTTGGGCAGAACGAGCCCT       c.480
 Q  M  V  D  S  R  I  S  C  K  E  E  L  L  L  G  R  T  S  P         p.160

          .         .         .                                     g.6818
 TCCAAAAACTACAATATGATGACTGTATCAGGTTAA                               c.516
 S  K  N  Y  N  M  M  T  V  S  G  X                                 p.171

          .         .         .         .         .         .       g.6878
 gatatagtctgtggatggatcatctgatgatgatggataaatttgatttttgctttgggt       c.*60

          .         .         .         .         .         .       g.6938
 gggctcctcttggggatggattatggaatttaaaccatgtcacagctgtgaagatctggc       c.*120

          .         .         .         .         .         .       g.6998
 acaagatagaatggtaaaaaaaaaaaaaattttaagtgacagtgccatagtttggacagt       c.*180

          .         .         .         .         .         .       g.7058
 acctttcaatgattaattttaatagcctgtgagtccaagtaaatgatcactttatttgct       c.*240

          .         .         .         .         .         .       g.7118
 agggagggaagtcctagggtggtttcagtttctcccagacatacctaaatttttacatca       c.*300

          .         .         .         .         .         .       g.7178
 atccttttaaagaaaatctgtatttcaaagaatctttctctgcagtaaatctcgcagggg       c.*360

          .         .         .         .         .         .       g.7238
 aatttgcactattacacttgaaagttgttattgttaaccttttcggcagcttttaatagg       c.*420

          .         .         .         .         .         .       g.7298
 aaagttaaacgttttaaacatggtagtactggaaattttacaagacttttacctagcact       c.*480

          .         .         .         .         .         .       g.7358
 taaatatgtataaatgtacataaagacaaactagtaagcatgacctggggaaatggtcag       c.*540

          .         .         .         .         .         .       g.7418
 accttgtattgtgtttttggccttgaaagtagcaagtgaccagaatctgccatggcaaca       c.*600

          .         .         .         .         .         .       g.7478
 ggctttaaaaaagacccttaaaaagacactgtctcaactgtggtgttagcaccagccagc       c.*660

          .         .         .         .         .         .       g.7538
 tctctgtacatttgctagcttgtagttttctaagactgagtaaacttcttatttttagaa       c.*720

          .         .         .         .         .         .       g.7598
 agtggaggtctggtttgtaactttccttgtacttaattgggtaaaagtcttttccacaaa       c.*780

          .         .         .         .         .         .       g.7658
 ccaccatctattttgtgaactttgttagtcatcttttatttggtaaattatgaactggtg       c.*840

          .         .         .         .         .         .       g.7718
 taaatttgtacagttcatgtatattgattgtggcaaagttgtacagatttctatattttg       c.*900

          .         .         .         .         .         .       g.7778
 gatgagaaatttttcttctctctataataaatcgtttcttatcttggcattttaatcaat       c.*960

          .         .         .         .         .         .       g.7838
 ctcttgtcatgattatagaggtttagctaaaagtattttttcttagaagacaggttctat       c.*1020

          .         .         .         .         .         .       g.7898
 aaactgaatctctgttgcacactggtcatgctggaaaaacatttgatgaggaatgaagat       c.*1080

          .         .         .         .         .         .       g.7958
 gctctgtatatacatgtttaggttttacaggaaacacaggagtagcatgttttaaaaatt       c.*1140

          .         .         .         .         .         .       g.8018
 tctaaagtcaaaacatggacacattcacaggctaatgatctcatgaaataaggataagag       c.*1200

          .         .         .         .         .         .       g.8078
 accacggtagcatctaccaaaaatgtgatactcaaaggattacatttcattgcttccctg       c.*1260

          .         .         .         .         .         .       g.8138
 ttgaagtgaagatataaatgttccattctgacccacctttgaaaaacaattactttgccc       c.*1320

          .         .         .         .         .         .       g.8198
 catggattctttgttcaattagaaatttccccggggcaggtgacccatagtcttaaagaa       c.*1380

          .         .         .         .         .         .       g.8258
 caggctaaacaccacagagagattggttgctttttgcttttcatcacctgcaagatgtac       c.*1440

          .         .         .         .         .         .       g.8318
 ataaaaatcacataagctggaattcaacaaaaggtatgtttatgaacttttattctcaaa       c.*1500

          .         .         .         .         .         .       g.8378
 agttgaaatgctgactttctcgattcctcattttcagacttttatttcagataaatacta       c.*1560

          .         .         .         .         .         .       g.8438
 aaaacctaagtgaaccttgataatgctgtagtgtagattacttcactaccccatataata       c.*1620

          .         .         .         .         .         .       g.8498
 gaaggacttgctgtttagttgtagaggataacagcgtttttcagtggaaattgaaagtgg       c.*1680

          .         .         .         .         .         .       g.8558
 aaaaattgaattttgctctacacagttaacatatagtggcctttttttggtatatatgta       c.*1740

          .         .         .         .         .         .       g.8618
 aacatgttgacactggaaatacgcagtctgaaataaaattagtaattacttgaaattagt       c.*1800

          .         .         .         .         .         .       g.8678
 aatctcaaataacttttaagaagttatttctacacccaggaataaattattctgattttg       c.*1860

          .         .         .         .         .         .       g.8738
 tagacaacacaggaataggccactgaatatgcaggtatttagagtacaaatgtctgtgga       c.*1920

          .         .         .         .         .         .       g.8798
 tattattggcacaccattctcgagagttagaattcgtagacccgcaacacatggactacc       c.*1980

          .         .         .         .         .         .       g.8858
 cttgccaattgttatggttttatttttaaacctattctgtgaaaaagctcctcggtattt       c.*2040

          .         .         .         .         .         .       g.8918
 caaacttgaattacaataaaaacaccaggtagggttgtttttaaatgggtctcaccccag       c.*2100

          .         .         .         .         .         .       g.8978
 tgctgactactgttgtttaccaactacatttcatctggtaactccattgaaactaagtac       c.*2160

          .         .         .         .         .         .       g.9038
 ctcaaccattttttttttttatcataaagccttttttcaaatggaaagttgtttttgaag       c.*2220

          .         .         .         .         .         .       g.9098
 atcttgacatcagactttttcaatctttgaaaatgatggaaacagttaataaaaatgttt       c.*2280

          .         .         .         .         .         .       g.9158
 attttagaattcaggtgatgtctggcttgtgaggagctgtttataagtttgtctttgaaa       c.*2340

          .         .         .         .         .         .       g.9218
 aaggcttgcacacatcactctgagaccagctgtttcctgtgactttaaccttaccttccc       c.*2400

          .         .         .         .         .         .       g.9278
 cagacaattgagctgaacctgtatctgcggtacagtagctgtttgtgatgtatttcttgt       c.*2460

          .         .         .         .         .         .       g.9338
 tcactgtttctggggaatgttttgaaatattttattataaatccttttaagataggatga       c.*2520

          .         .         .         .         .         .       g.9398
 ctactttcaaaattattgttgcctttggcaccaggaattcatagttgtgattggcagtaa       c.*2580

          .         .         .         .         .         .       g.9458
 gtttgaggagtgttactttctaagttttaacaggtagttttgaaattatttccttttttc       c.*2640

          .         .         .         .         .         .       g.9518
 caaatttaagtagtgcctccctctgtaatgttgaaacaaggcttcaagtggattgtatag       c.*2700

          .         .         .         .         .         .       g.9578
 caagagttaccctggttcatgcaggataatgcggctgttatctttgtcatctggaatggg       c.*2760

          .         .         .         .         .         .       g.9638
 aatctcatgtctttatccttatgtgcaatatttctataataatagactggaaaggccacc       c.*2820

          .         .         .         .         .         .       g.9698
 agaaagtggctttcaggtacattgcacaaatagtttccttaagtcattataactcacaca       c.*2880

          .         .         .         .         .         .       g.9758
 ttgcaagtaattaattttgttttgtataggtgttgcagtttatgaaattggccttcaagt       c.*2940

          .         .         .         .         .         .       g.9818
 taaaaggaaggaagccgtattcccgatggctagtgtttaatgactacaggtttccaggct       c.*3000

          .         .         .         .         .         .       g.9878
 ccctttaatcttgggagcaaataaatctactattggacttctccctgcgtgacttttaac       c.*3060

          .         .         .         .         .         .       g.9938
 atttctgatactctctcttcttcctctttacagaagagaggtatgataactgaagttgta       c.*3120

          .         .         .         .         .         .       g.9998
 ctttgcatattgaagtttaaagatacttcctctccccttttcacccctatttcaaatgat       c.*3180

          .         .         .         .         .         .       g.10058
 gtgataaaatcctcttgataggctatatggagaacatttgtcaatagttttatctatgca       c.*3240

          .         .         .         .         .         .       g.10118
 tggaagtcttcaaaaagtatatcttggattgtctaaaactgaatagatttcttatttatc       c.*3300

          .         .         .         .         .         .       g.10178
 tgaaggtatacagactgccaacattttagacttatctctcagtctctgccactgaacttt       c.*3360

          .         .         .         .         .         .       g.10238
 tatatatggctgctatcaaaatataaccggtttattttcatatttggaactaatataaca       c.*3420

          .         .         .         .         .         .       g.10298
 gtatcacaaaatcttttacagtaagatagtttgtaataccagccgacccagctgcttaac       c.*3480

          .         .         .         .         .         .       g.10358
 tgagtccttaaatcatttaatatatgggactgtaaatagagaaatctgtacattatgaga       c.*3540

          .         .         .         .         .         .       g.10418
 tctgatttctggttatgcctatagatctttattttctttatccctatagatcattttctt       c.*3600

          .         .         .         .         .         .       g.10478
 ctgatgttaagtgttatatttttgaaatgctcctaaacaagtaagccttagattgtatta       c.*3660

          .         .         .         .         .         .       g.10538
 atcctgaggattgataccatttcctcaacactttgtggagtatgattgacaccagttttt       c.*3720

          .         .         .         .         .         .       g.10598
 ttttgactgcaggtttaacttggcttatcacttttcgtattgctcagtatgtccaagata       c.*3780

          .         .                                               g.10620
 ggaataaaaaaatgtagttcaa                                             c.*3802

 (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 B-cell translocation gene 1, anti-proliferative 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.