thyroid hormone receptor interactor 12 (TRIP12) - coding DNA reference sequence

(used for variant description)

(last modified December 19, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_001284214.1 in the TRIP12 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_053017.1, covering TRIP12 transcript NM_001284214.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.6284
  gctgcggctcagctgataattgaaggaacccggagccgccgccgccgcgccgctggggg       c.-121

 .         .         .         .         .         .                g.6344
 gggtggggggagctagtggaagttactgccgcgccaccgagtccggaccggagactttgg       c.-61

 .         . | 02       .         .         .         .             g.48155
 ggcctaactag | tgaatggtagtgtctagaaagggtatgtcccttcaagagagaggtgcca    c.-1

          .         .         .         .         .         .       g.48215
 ATGTCCAACCGGCCTAATAACAATCCAGGGGGGTCACTGCGACGTTCACAGAGGAACACT       c.60
 M  S  N  R  P  N  N  N  P  G  G  S  L  R  R  S  Q  R  N  T         p.20

          .         .         .         | 03         .         .    g.67725
 GCCGGGGCCCAACCACAAGACGACTCAATAGGAGGAAG | GTCACATTTAGGGCAGGCAAAA    c.120
 A  G  A  Q  P  Q  D  D  S  I  G  G  R  |  S  H  L  G  Q  A  K      p.40

          .         .         .         .         .         .       g.67785
 CATAAGGGATATAGCCCTCCTGAGAGTAGAAAATCTAATTCTAAGGCACCCAAAGTGCAG       c.180
 H  K  G  Y  S  P  P  E  S  R  K  S  N  S  K  A  P  K  V  Q         p.60

          .         .         .         .     | 04   .         .    g.68676
 TCTAATACTACTTCTGAACTGTCAAGGGGACACCTTTCTAAAAG | AAGCTGCAGTTCATCA    c.240
 S  N  T  T  S  E  L  S  R  G  H  L  S  K  R  |  S  C  S  S  S      p.80

          .         .         .         .         .         .       g.68736
 TCTGCTGTGATAGTTCCACAACCAGAGGATCCAGACAGAGCCAATACTTCAGAAAGACAA       c.300
 S  A  V  I  V  P  Q  P  E  D  P  D  R  A  N  T  S  E  R  Q         p.100

          .         .         .         .         .         .       g.68796
 AAAACGGGGCAGGTGCCTAAGAAAGACAATTCTCGAGGAGTGAAGCGCAGTGCTAGTCCA       c.360
 K  T  G  Q  V  P  K  K  D  N  S  R  G  V  K  R  S  A  S  P         p.120

          .         .         .         .         .         .       g.68856
 GACTACAACAGGACCAATTCTCCTAGCTCTGCAAAAAAACCAAAAGCACTTCAGCATACT       c.420
 D  Y  N  R  T  N  S  P  S  S  A  K  K  P  K  A  L  Q  H  T         p.140

          .         .         .         .         .         .       g.68916
 GAATCTCCCTCAGAAACAAATAAGCCACATAGTAAGTCAAAGAAGAGACATTTAGACCAG       c.480
 E  S  P  S  E  T  N  K  P  H  S  K  S  K  K  R  H  L  D  Q         p.160

          .         .         .         .         .         .       g.68976
 GAGCAACAACTGAAATCTGCACAATCACCATCAACAAGCAAGGCTCATACCAGGAAGAGT       c.540
 E  Q  Q  L  K  S  A  Q  S  P  S  T  S  K  A  H  T  R  K  S         p.180

          .         .         .         .         .         .       g.69036
 GGGGCCACTGGCGGTTCACGGAGTCAGAAAAGAAAAAGGACAGAGAGTTCTTGTGTAAAG       c.600
 G  A  T  G  G  S  R  S  Q  K  R  K  R  T  E  S  S  C  V  K         p.200

          .         .         .         .         .         .       g.69096
 AGTGGCTCCGGGTCTGAATCAACTGGTGCAGAAGAGAGATCTGCGAAACCTACCAAGCTG       c.660
 S  G  S  G  S  E  S  T  G  A  E  E  R  S  A  K  P  T  K  L         p.220

          .         .         .         .         .         .       g.69156
 GCTTCAAAATCAGCCACCTCAGCCAAAGCTGGGTGTAGCACCATCACTGATTCTTCTTCT       c.720
 A  S  K  S  A  T  S  A  K  A  G  C  S  T  I  T  D  S  S  S         p.240

          .         .         .         .         .         .       g.69216
 GCTGCCTCTACTTCCTCCTCGTCTTCTGCTGTAGCCTCGGCCTCCTCCACTGTACCACCA       c.780
 A  A  S  T  S  S  S  S  S  A  V  A  S  A  S  S  T  V  P  P         p.260

          .         .         .         .         .         .       g.69276
 GGTGCCAGAGTGAAACAAGGAAAAGATCAGAACAAGGCCAGGCGTTCCCGTTCAGCGTCC       c.840
 G  A  R  V  K  Q  G  K  D  Q  N  K  A  R  R  S  R  S  A  S         p.280

          .         .         .         .         .         .       g.69336
 AGTCCCAGCCCCAGAAGAAGTAGCAGGGAAAAGGAACAGAGTAAAACTGGTGGCTCTTCA       c.900
 S  P  S  P  R  R  S  S  R  E  K  E  Q  S  K  T  G  G  S  S         p.300

          .         .         .         .         .         .       g.69396
 AAATTTGATTGGGCTGCTCGTTTCAGCCCTAAAGTTAGCCTTCCTAAAACAAAACTGTCT       c.960
 K  F  D  W  A  A  R  F  S  P  K  V  S  L  P  K  T  K  L  S         p.320

          .         .         .         .         .         .       g.69456
 CTTCCAGGGTCTTCTAAGTCAGAGACATCAAAACCTGGACCTTCTGGATTACAGGCCAAA       c.1020
 L  P  G  S  S  K  S  E  T  S  K  P  G  P  S  G  L  Q  A  K         p.340

         | 05.         .         .         .         .         .    g.87360
 TTAGCAA | GTTTAAGAAAATCTACGAAGAAACGCAGTGAGTCTCCACCTGCTGAGCTCCCC    c.1080
 L  A  S |   L  R  K  S  T  K  K  R  S  E  S  P  P  A  E  L  P      p.360

          .         .         .         .         .    | 06    .    g.91257
 AGTTTGAGGCGGAGCACACGCCAAAAGACCACGGGCTCCTGTGCTAGTACCAG | TCGGCGA    c.1140
 S  L  R  R  S  T  R  Q  K  T  T  G  S  C  A  S  T  S  |  R  R      p.380

          .         .         .         .         .         .       g.91317
 GGCTCTGGCCTGGGCAAAAGAGGAGCAGCTGAAGCTCGTCGACAGGAGAAAATGGCAGAC       c.1200
 G  S  G  L  G  K  R  G  A  A  E  A  R  R  Q  E  K  M  A  D         p.400

          .         .         .         .         .         .       g.91377
 CCTGAAAGCAACCAGGAGGCAGTAAATTCTTCAGCTGCTCGGACAGATGAAGCTCCCCAA       c.1260
 P  E  S  N  Q  E  A  V  N  S  S  A  A  R  T  D  E  A  P  Q         p.420

          . | 07       .         .         .         .         .    g.97445
 GGAGCTGCAG | CCTCTAGTTCTGTTGCAGGGGCTGTTGGCATGACCACCTCTGGGGAGAGT    c.1320
 G  A  A  A |   S  S  S  V  A  G  A  V  G  M  T  T  S  G  E  S      p.440

          .         .         .     | 08   .         .         .    g.98972
 GAATCAGATGATTCCGAGATGGGACGTTTGCAAG | CTTTGTTAGAGGCAAGGGGTCTTCCC    c.1380
 E  S  D  D  S  E  M  G  R  L  Q  A |   L  L  E  A  R  G  L  P      p.460

          .         .         .         .         .         .       g.99032
 CCTCACCTATTTGGTCCTCTTGGTCCTCGGATGTCACAGCTTTTCCATAGAACAATTGGA       c.1440
 P  H  L  F  G  P  L  G  P  R  M  S  Q  L  F  H  R  T  I  G         p.480

          . | 09       .         .         .         .         .    g.109772
 AGTGGAGCTA | GTTCTAAGGCCCAGCAGCTACTACAAGGATTGCAAGCCAGTGATGAAAGT    c.1500
 S  G  A  S |   S  K  A  Q  Q  L  L  Q  G  L  Q  A  S  D  E  S      p.500

          .         .         .         .         .         .       g.109832
 CAACAGCTTCAGGCAGTTATTGAGATGTGTCAGTTACTGGTCATGGGAAATGAGGAGACA       c.1560
 Q  Q  L  Q  A  V  I  E  M  C  Q  L  L  V  M  G  N  E  E  T         p.520

          .         .         .          | 10        .         .    g.112947
 CTGGGAGGGTTTCCTGTCAAGAGTGTTGTTCCAGCTTTG | ATTACGTTACTTCAGATGGAG    c.1620
 L  G  G  F  P  V  K  S  V  V  P  A  L   | I  T  L  L  Q  M  E      p.540

          .      | 11  .         .         .         .         .    g.113085
 CACAATTTTGATATT | ATGAACCATGCTTGTCGAGCCTTAACATACATGATGGAAGCACTT    c.1680
 H  N  F  D  I   | M  N  H  A  C  R  A  L  T  Y  M  M  E  A  L      p.560

          .         .         .         .         .  | 12      .    g.113918
 CCTCGATCTTCTGCTGTTGTAGTAGATGCTATTCCTGTCTTTTTAGAAAAG | CTGCAAGTT    c.1740
 P  R  S  S  A  V  V  V  D  A  I  P  V  F  L  E  K   | L  Q  V      p.580

          .         .         .         .         .         .       g.113978
 ATTCAGTGTATTGATGTGGCAGAGCAGGCCTTGACTGCCTTGGAGATGTTGTCACGGAGA       c.1800
 I  Q  C  I  D  V  A  E  Q  A  L  T  A  L  E  M  L  S  R  R         p.600

          .         .     | 13   .         .         .         .    g.114239
 CATAGTAAAGCCATTCTACAGGCG | GGTGGTTTGGCAGACTGCTTGCTGTACCTAGAATTC    c.1860
 H  S  K  A  I  L  Q  A   | G  G  L  A  D  C  L  L  Y  L  E  F      p.620

          .         .         .         .         .         .       g.114299
 TTCAGCATAAATGCCCAAAGAAATGCATTAGCAATTGCAGCTAATTGCTGCCAGAGTATC       c.1920
 F  S  I  N  A  Q  R  N  A  L  A  I  A  A  N  C  C  Q  S  I         p.640

          .         .         .         .         .         .       g.114359
 ACGCCAGATGAATTTCATTTTGTGGCAGATTCACTCCCATTGCTAACCCAAAGGCTAACA       c.1980
 T  P  D  E  F  H  F  V  A  D  S  L  P  L  L  T  Q  R  L  T         p.660

        | 14 .         .         .         .         .         .    g.117084
 CATCAG | GATAAAAAGTCAGTAGAAAGCACTTGCCTTTGTTTTGCACGCCTAGTGGACAAC    c.2040
 H  Q   | D  K  K  S  V  E  S  T  C  L  C  F  A  R  L  V  D  N      p.680

          .      | 15  .         .         .         .         .    g.117234
 TTCCAGCATGAGGAG | AATTTACTCCAGCAGGTTGCTTCCAAAGATCTGCTTACAAATGTT    c.2100
 F  Q  H  E  E   | N  L  L  Q  Q  V  A  S  K  D  L  L  T  N  V      p.700

          .         .         .         .         .         .       g.117294
 CAACAGCTGTTGGTAGTGACTCCACCCATTTTAAGTTCTGGGATGTTTATAATGGTGGTT       c.2160
 Q  Q  L  L  V  V  T  P  P  I  L  S  S  G  M  F  I  M  V  V         p.720

          .         .         .         .         .         .       g.117354
 CGCATGTTTTCTCTGATGTGTTCCAACTGTCCAACTTTAGCTGTTCAACTTATGAAACAA       c.2220
 R  M  F  S  L  M  C  S  N  C  P  T  L  A  V  Q  L  M  K  Q         p.740

   | 16      .         .         .         .         .         .    g.119924
 A | ACATTGCAGAAACGCTTCACTTTCTCCTGTGTGGTGCCTCCAATGGAAGTTGTCAGGAA    c.2280
 N |   I  A  E  T  L  H  F  L  L  C  G  A  S  N  G  S  C  Q  E      p.760

          .         .         .         .         .          | 17    g.120371
 CAGATTGATCTTGTTCCACGAAGCCCTCAAGAGTTGTATGAACTGACATCTCTGATTTG | T    c.2340
 Q  I  D  L  V  P  R  S  P  Q  E  L  Y  E  L  T  S  L  I  C  |      p.780

          .         .         .         .         .         .       g.120431
 GAACTTATGCCATGTTTACCAAAAGAAGGCATTTTTGCAGTTGATACCATGTTGAAGAAG       c.2400
 E  L  M  P  C  L  P  K  E  G  I  F  A  V  D  T  M  L  K  K         p.800

          .         .         .         .         .         .       g.120491
 GGAAATGCACAGAACACAGATGGTGCGATATGGCAGTGGCGTGATGATCGGGGCCTCTGG       c.2460
 G  N  A  Q  N  T  D  G  A  I  W  Q  W  R  D  D  R  G  L  W         p.820

          .         .         .       | 18 .         .         .    g.122456
 CATCCATATAACAGGATTGACAGCCGGATCATTGAG | CAAATCAATGAGGACACGGGAACA    c.2520
 H  P  Y  N  R  I  D  S  R  I  I  E   | Q  I  N  E  D  T  G  T      p.840

          .         .         .         .          | 19        .    g.124018
 GCACGTGCCATTCAGAGAAAACCTAACCCGTTAGCCAATAGTAACACTA | GTGGATATTCA    c.2580
 A  R  A  I  Q  R  K  P  N  P  L  A  N  S  N  T  S |   G  Y  S      p.860

          .         .         .         .         .         .       g.124078
 GAGTCAAAGAAGGATGATGCTCGAGCACAGCTTATGAAAGAGGATCCGGAACTGGCTAAG       c.2640
 E  S  K  K  D  D  A  R  A  Q  L  M  K  E  D  P  E  L  A  K         p.880

          .         .         .         .         .         .       g.124138
 TCTTTTATTAAGACATTATTTGGTGTTCTTTATGAAGTGTATAGTTCCTCAGCAGGACCT       c.2700
 S  F  I  K  T  L  F  G  V  L  Y  E  V  Y  S  S  S  A  G  P         p.900

          .         .         .         .         .         .       g.124198
 GCGGTCAGACATAAGTGCCTTAGAGCAATTCTTAGGATAATTTATTTTGCGGATGCTGAA       c.2760
 A  V  R  H  K  C  L  R  A  I  L  R  I  I  Y  F  A  D  A  E         p.920

          .         .         .         | 20         .         .    g.124567
 CTTCTGAAGGATGTTCTGAAAAATCATGCTGTTTCAAG | TCACATTGCTTCCATGCTGTCA    c.2820
 L  L  K  D  V  L  K  N  H  A  V  S  S  |  H  I  A  S  M  L  S      p.940

          .         .         .         .         .         .       g.124627
 AGCCAAGACCTGAAGATAGTAGTGGGAGCACTTCAGATGGCAGAAATTTTAATGCAGAAG       c.2880
 S  Q  D  L  K  I  V  V  G  A  L  Q  M  A  E  I  L  M  Q  K         p.960

          .         .         .        | 21.         .         .    g.125798
 TTACCTGATATTTTTAGTGTTTACTTCAGAAGAGAAG | GTGTAATGCATCAAGTAAAACAC    c.2940
 L  P  D  I  F  S  V  Y  F  R  R  E  G |   V  M  H  Q  V  K  H      p.980

          .         .         .         .         .         .       g.125858
 TTAGCAGAATCAGAGTCTTTGTTGACAAGTCCACCAAAGGCATGTACGAATGGATCGGGA       c.3000
 L  A  E  S  E  S  L  L  T  S  P  P  K  A  C  T  N  G  S  G         p.1000

          .         .         .         .         .         .       g.125918
 TCCATGGGATCCACAACTTCAGTCAGCAGTGGGACAGCCACAGCTGCCACTCATGCTGCA       c.3060
 S  M  G  S  T  T  S  V  S  S  G  T  A  T  A  A  T  H  A  A         p.1020

          .         .         .         .         .         .       g.125978
 GCTGACTTGGGATCACCCAGCTTGCAGCACAGCAGGGATGATTCTTTAGATCTCAGCCCT       c.3120
 A  D  L  G  S  P  S  L  Q  H  S  R  D  D  S  L  D  L  S  P         p.1040

       | 22  .         .         .         .         .         .    g.128906
 CAAGG | TCGATTAAGTGATGTTCTAAAGAGAAAACGACTGCCAAAACGAGGGCCAAGAAGG    c.3180
 Q  G  |  R  L  S  D  V  L  K  R  K  R  L  P  K  R  G  P  R  R      p.1060

          .         .         .         .       | 23 .         .    g.129199
 CCAAAGTACTCACCTCCAAGAGATGATGACAAAGTAGACAATCAAG | CTAAAAGCCCCACC    c.3240
 P  K  Y  S  P  P  R  D  D  D  K  V  D  N  Q  A |   K  S  P  T      p.1080

          .         .         .         .         .         .       g.129259
 ACTACTCAGTCACCTAAATCTTCTTTCCTGGCAAGCTTGAATCCAAAAACATGGGGAAGG       c.3300
 T  T  Q  S  P  K  S  S  F  L  A  S  L  N  P  K  T  W  G  R         p.1100

          .         .         .         .         .         .       g.129319
 TTAAGTACACAGTCCAACAGCAACAACATTGAGCCAGCACGGACTGCGGGAGGTAGTGGC       c.3360
 L  S  T  Q  S  N  S  N  N  I  E  P  A  R  T  A  G  G  S  G         p.1120

          .         .         .         .  | 24      .         .    g.130422
 CTTGCCAGGGCTGCCTCAAAGGATACCATCTCCAATAATAG | AGAAAAAATTAAAGGTTGG    c.3420
 L  A  R  A  A  S  K  D  T  I  S  N  N  R  |  E  K  I  K  G  W      p.1140

          .         .         .         .         .         .       g.130482
 ATTAAGGAGCAGGCACATAAATTTGTAGAACGTTATTTCAGTTCTGAGAATATGGATGGA       c.3480
 I  K  E  Q  A  H  K  F  V  E  R  Y  F  S  S  E  N  M  D  G         p.1160

          .         .         .         .         .         .       g.130542
 AGCAACCCTGCATTGAATGTCCTTCAGAGACTTTGTGCTGCAACCGAACAACTCAACCTC       c.3540
 S  N  P  A  L  N  V  L  Q  R  L  C  A  A  T  E  Q  L  N  L         p.1180

     | 25    .         .         .         .         .         .    g.131509
 CAG | GTGGATGGTGGAGCTGAGTGCCTTGTAGAAATCCGTAGCATAGTCTCAGAGTCAGAT    c.3600
 Q   | V  D  G  G  A  E  C  L  V  E  I  R  S  I  V  S  E  S  D      p.1200

          .         .         .         .         .         .       g.131569
 GTTTCATCATTTGAAATCCAACATAGTGGATTTGTGAAGCAGCTGTTGCTTTATTTGACA       c.3660
 V  S  S  F  E  I  Q  H  S  G  F  V  K  Q  L  L  L  Y  L  T         p.1220

          .         .         .         .         .         .       g.131629
 TCTAAAAGTGAAAAGGATGCTGTGAGCAGAGAGATCAGATTAAAGCGATTTCTTCATGTA       c.3720
 S  K  S  E  K  D  A  V  S  R  E  I  R  L  K  R  F  L  H  V         p.1240

          .      | 26  .         .         .         .         .    g.132949
 TTTTTTTCTTCTCCA | CTTCCTGGAGAAGAGCCCATTGGAAGAGTGGAACCAGTGGGTAAT    c.3780
 F  F  S  S  P   | L  P  G  E  E  P  I  G  R  V  E  P  V  G  N      p.1260

          .         .         .         .         .         .       g.133009
 GCACCTTTGTTGGCATTAGTTCACAAGATGAACAACTGCCTCAGCCAGATGGAACAATTT       c.3840
 A  P  L  L  A  L  V  H  K  M  N  N  C  L  S  Q  M  E  Q  F         p.1280

          .         .         .         .        | 27.         .    g.135102
 CCAGTCAAAGTACATGATTTCCCTAGTGGAAATGGGACAGGAGGCAG | CTTTTCTCTCAAC    c.3900
 P  V  K  V  H  D  F  P  S  G  N  G  T  G  G  S  |  F  S  L  N      p.1300

          .         .         .         .         .         .       g.135162
 AGAGGATCACAGGCTTTAAAATTTTTCAACACACATCAATTAAAATGCCAGTTACAAAGG       c.3960
 R  G  S  Q  A  L  K  F  F  N  T  H  Q  L  K  C  Q  L  Q  R         p.1320

          .         .         .         .         .         .       g.135222
 CATCCAGACTGTGCAAATGTGAAGCAGTGGAAGGGTGGACCTGTCAAGATTGACCCTCTG       c.4020
 H  P  D  C  A  N  V  K  Q  W  K  G  G  P  V  K  I  D  P  L         p.1340

          .         .         .         . | 28       .         .    g.136028
 GCTTTGGTACAAGCCATCGAGAGATACCTTGTAGTTAGAG | GGTATGGAAGAGTAAGAGAA    c.4080
 A  L  V  Q  A  I  E  R  Y  L  V  V  R  G |   Y  G  R  V  R  E      p.1360

          .         .         .         .         .     | 29   .    g.136175
 GATGATGAAGACAGCGATGACGATGGATCAGATGAGGAAATAGATGAGTCTCTG | GCTGCT    c.4140
 D  D  E  D  S  D  D  D  G  S  D  E  E  I  D  E  S  L   | A  A      p.1380

          .         .         .         .         .         .       g.136235
 CAGTTCCTAAATTCAGGAAATGTAAGACACAGGCTGCAGTTTTATATTGGAGAACATTTG       c.4200
 Q  F  L  N  S  G  N  V  R  H  R  L  Q  F  Y  I  G  E  H  L         p.1400

          .         .         .         .         .         .       g.136295
 CTGCCGTATAACATGACTGTGTATCAGGCAGTACGGCAGTTTAGTATACAGGCTGAAGAT       c.4260
 L  P  Y  N  M  T  V  Y  Q  A  V  R  Q  F  S  I  Q  A  E  D         p.1420

          .         .         .         .         .         .       g.136355
 GAAAGAGAATCCACAGATGATGAGAGCAATCCTCTAGGCAGAGCTGGTATTTGGACAAAG       c.4320
 E  R  E  S  T  D  D  E  S  N  P  L  G  R  A  G  I  W  T  K         p.1440

          .     | 30   .         .         .         .         .    g.137029
 ACTCATACAATATG | GTATAAACCTGTGAGAGAGGATGAAGAAAGTAATAAAGATTGTGTT    c.4380
 T  H  T  I  W  |  Y  K  P  V  R  E  D  E  E  S  N  K  D  C  V      p.1460

          .         .         .         .         .         .       g.137089
 GGTGGTAAAAGAGGAAGAGCCCAAACAGCTCCAACGAAAACTTCCCCTAGAAATGCAAAA       c.4440
 G  G  K  R  G  R  A  Q  T  A  P  T  K  T  S  P  R  N  A  K         p.1480

          .         .   | 31     .         .         .         .    g.138510
 AAGCATGATGAGTTATGGCACG | ATGGAGTGTGCCCATCAGTATCAAATCCTTTAGAAGTT    c.4500
 K  H  D  E  L  W  H  D |   G  V  C  P  S  V  S  N  P  L  E  V      p.1500

          .         .         .         .         .         .       g.138570
 TACCTCATTCCCACACCACCTGAAAATATAACATTTGAAGACCCGTCATTAGATGTGATC       c.4560
 Y  L  I  P  T  P  P  E  N  I  T  F  E  D  P  S  L  D  V  I         p.1520

          .         .         .         .         .     | 32   .    g.139300
 CTTCTTTTAAGAGTTTTACATGCTATCAGTCGATACTGGTATTACTTGTATGAT | AATGCA    c.4620
 L  L  L  R  V  L  H  A  I  S  R  Y  W  Y  Y  L  Y  D   | N  A      p.1540

          .         .         .         .         .         .       g.139360
 ATGTGCAAGGAAATTATTCCAACTAGTGAATTTATTAACAGTAAGTTAACAGCAAAAGCA       c.4680
 M  C  K  E  I  I  P  T  S  E  F  I  N  S  K  L  T  A  K  A         p.1560

          .         .         .         .         .         .       g.139420
 AATAGGCAACTTCAAGATCCTTTAGTAATCATGACAGGAAACATCCCAACATGGCTTACT       c.4740
 N  R  Q  L  Q  D  P  L  V  I  M  T  G  N  I  P  T  W  L  T         p.1580

          .        | 33.         .         .         .         .    g.140616
 GAGCTAGGAAAAACCTG | CCCATTTTTCTTTCCTTTTGATACCCGGCAAATGCTTTTTTAT    c.4800
 E  L  G  K  T  C  |  P  F  F  F  P  F  D  T  R  Q  M  L  F  Y      p.1600

          .         .         .         .         .         .       g.140676
 GTAACTGCATTTGATCGGGACCGAGCAATGCAAAGATTACTTGATACCAACCCAGAAATC       c.4860
 V  T  A  F  D  R  D  R  A  M  Q  R  L  L  D  T  N  P  E  I         p.1620

          .         .         .         .         .     | 34   .    g.142385
 AACCAGTCTGATTCTCAAGATAGCAGAGTTGCACCTAGATTGGATAGAAAAAAA | CGTACT    c.4920
 N  Q  S  D  S  Q  D  S  R  V  A  P  R  L  D  R  K  K   | R  T      p.1640

          .         .         .         .         .         .       g.142445
 GTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCA       c.4980
 V  N  R  E  E  L  L  K  Q  A  E  S  V  M  Q  D  L  G  S  S         p.1660

          .         .         .    | 35    .         .         .    g.149271
 CGGGCCATGTTAGAAATCCAGTATGAAAATGAG | GTTGGTACAGGTCTTGGGCCTACACTG    c.5040
 R  A  M  L  E  I  Q  Y  E  N  E   | V  G  T  G  L  G  P  T  L      p.1680

          .         .         .         .         .         .       g.149331
 GAGTTTTATGCGCTTGTATCTCAGGAACTACAGAGAGCTGACTTGGGTCTTTGGAGAGGT       c.5100
 E  F  Y  A  L  V  S  Q  E  L  Q  R  A  D  L  G  L  W  R  G         p.1700

          .         .         | 36         .         .         .    g.149679
 GAAGAAGTAACTCTTAGCAATCCAAAAG | GGAGCCAAGAAGGGACCAAGTATATTCAAAAC    c.5160
 E  E  V  T  L  S  N  P  K  G |   S  Q  E  G  T  K  Y  I  Q  N      p.1720

          .         .         .         .         .         .       g.149739
 CTCCAGGGCCTGTTTGCGCTTCCCTTTGGTAGGACAGCAAAGCCAGCTCATATCGCAAAG       c.5220
 L  Q  G  L  F  A  L  P  F  G  R  T  A  K  P  A  H  I  A  K         p.1740

          .         .         .         .         .         .       g.149799
 GTTAAGATGAAGTTTCGCTTCTTAGGAAAATTAATGGCCAAGGCTATCATGGATTTCAGA       c.5280
 V  K  M  K  F  R  F  L  G  K  L  M  A  K  A  I  M  D  F  R         p.1760

     | 37    .         .         .         .         .         .    g.150812
 TTG | GTGGACCTTCCCCTTGGCTTACCCTTTTATAAATGGATGCTACGGCAAGAAACTTCA    c.5340
 L   | V  D  L  P  L  G  L  P  F  Y  K  W  M  L  R  Q  E  T  S      p.1780

          .         .         .         .         .         .       g.150872
 CTGACATCACACGATTTGTTTGACATCGACCCAGTTGTAGCCAGATCAGTTTATCACCTA       c.5400
 L  T  S  H  D  L  F  D  I  D  P  V  V  A  R  S  V  Y  H  L         p.1800

          .         .         .         .         | 38         .    g.153985
 GAAGACATTGTCAGACAGAAGAAAAGACTTGAACAAGATAAATCCCAG | ACCAAAGAGAGT    c.5460
 E  D  I  V  R  Q  K  K  R  L  E  Q  D  K  S  Q   | T  K  E  S      p.1820

          .         .         .         .         .         .       g.154045
 CTACAGTATGCATTAGAAACCTTGACTATGAATGGCTGCTCAGTTGAAGATCTAGGACTG       c.5520
 L  Q  Y  A  L  E  T  L  T  M  N  G  C  S  V  E  D  L  G  L         p.1840

          .         .         .         .         .         .       g.154105
 GATTTCACTCTGCCAGGGTTTCCCAATATCGAACTGAAGAAAGGAGGGAAGGATATACCA       c.5580
 D  F  T  L  P  G  F  P  N  I  E  L  K  K  G  G  K  D  I  P         p.1860

          .         .         .    | 39    .         .         .    g.156629
 GTCACTATCCACAATTTAGAGGAGTATCTAAGA | CTGGTTATATTCTGGGCACTAAATGAA    c.5640
 V  T  I  H  N  L  E  E  Y  L  R   | L  V  I  F  W  A  L  N  E      p.1880

          .         .         .         .         .         .       g.156689
 GGCGTTTCTAGGCAATTTGATTCGTTCAGAGATGGATTTGAATCAGTCTTCCCACTCAGT       c.5700
 G  V  S  R  Q  F  D  S  F  R  D  G  F  E  S  V  F  P  L  S         p.1900

          .         .        | 40.         .         .         .    g.158942
 CATCTTCAGTACTTCTACCCGGAGGAA | CTGGATCAGCTCCTTTGTGGCAGTAAAGCAGAC    c.5760
 H  L  Q  Y  F  Y  P  E  E   | L  D  Q  L  L  C  G  S  K  A  D      p.1920

          .         .         .         .         .         .       g.159002
 ACTTGGGATGCAAAGACACTGATGGAATGCTGTAGGCCTGATCATGGTTATACTCATGAC       c.5820
 T  W  D  A  K  T  L  M  E  C  C  R  P  D  H  G  Y  T  H  D         p.1940

    | 41     .         .         .         .         .         .    g.159573
 AG | TCGGGCTGTGAAGTTTTTGTTTGAGATTCTCAGTAGTTTTGATAATGAGCAGCAGAGG    c.5880
 S  |  R  A  V  K  F  L  F  E  I  L  S  S  F  D  N  E  Q  Q  R      p.1960

          .         .         .         .       | 42 .         .    g.160498
 TTATTTCTCCAGTTTGTGACTGGTAGCCCAAGATTGCCTGTTGGAG | GATTCCGGAGTTTG    c.5940
 L  F  L  Q  F  V  T  G  S  P  R  L  P  V  G  G |   F  R  S  L      p.1980

          .         .         .         .         .         .       g.160558
 AATCCACCTTTGACAATTGTCCGAAAGACGTTTGAATCAACAGAAAACCCAGATGACTTC       c.6000
 N  P  P  L  T  I  V  R  K  T  F  E  S  T  E  N  P  D  D  F         p.2000

          .         .         .         .         .         .       g.160618
 TTGCCCTCTGTAATGACTTGTGTGAACTATCTTAAGTTGCCGGACTATTCAAGCATTGAG       c.6060
 L  P  S  V  M  T  C  V  N  Y  L  K  L  P  D  Y  S  S  I  E         p.2020

          .         .         .         .         .         .       g.160678
 ATAATGCGTGAAAAACTGTTGATAGCAGCAAGAGAAGGGCAGCAGTCGTTCCATCTTTCC       c.6120
 I  M  R  E  K  L  L  I  A  A  R  E  G  Q  Q  S  F  H  L  S         p.2040

                                                                    g.160681
 TGA                                                                c.6123
 X                                                                  p.2040

          .         .         .         .         .         .       g.160741
 tcatagcaagaaatgcagtgtctgcctgttacagcaaaagaaacaaatcatgatttcttt       c.*60

          .         .         .         .         .         .       g.160801
 tctaatgttatcacctgagtcaaggaaacatgttacgccttcttgttgtaggaaaaacgg       c.*120

          .         .         .         .         .         .       g.160861
 cttgcagattataaagagacatttggttgatattcattaatggccccatggacttaaagt       c.*180

          .         .         .         .         .         .       g.160921
 gatcaggccctaaaacgttgttgtgatgaggtttctttagcaagttcttgtttaaattat       c.*240

          .         .         .         .         .         .       g.160981
 catttatttgatgagtgaagtttttaacatgctttgctgtgtgaaatttaaaaaagggat       c.*300

          .         .         .         .         .         .       g.161041
 gtttttccaggctggaacaataaatgtggctgtgcagtttaattctgggctgtgtgtatc       c.*360

          .         .         .         .         .         .       g.161101
 catctagctaagtctgcagttttctttcctccaaagacaactcttgtacataagtacaga       c.*420

          .         .         .         .         .         .       g.161161
 aatttaagctcacatgtatttgacaaatatagtttagtagactagctctatgtgcttttc       c.*480

          .         .         .         .         .         .       g.161221
 actttcctctgattttctctccctgattcattattatctgtgcagctcacagtttttttt       c.*540

          .         .         .         .         .         .       g.161281
 ttgtatacaactcacagttctcaaattttcgttacccatgggcttctgttgtcccatgtt       c.*600

          .         .         .         .         .         .       g.161341
 ctctccagttaagatctaatttaaaattcattggattgaaatttattgaatataattcag       c.*660

          .         .         .         .         .         .       g.161401
 cttttgtaactaggtagacttttcttatagtttagttttaatatagtttagggtattact       c.*720

          .         .         .         .         .         .       g.161461
 ggctttttcccaggtgacacactaaggactgtttacatggcaattccagcagcaacagcc       c.*780

          .         .         .         .         .         .       g.161521
 tctggaatgagacaaggaaagctcatttgtttcttttatgaaggttaagaagtctacagc       c.*840

          .         .         .         .         .         .       g.161581
 ttgggctggccggtatttattattctgtggccagaggattttaaattaatgtaaattttt       c.*900

          .         .         .         .         .         .       g.161641
 taaacaaaataagcagttttccttccctgttggagtaaaaaaatttttttccctttgttg       c.*960

          .         .         .         .         .         .       g.161701
 ttttacgtttttgttcatagtcttctttattccacgctcctcttccccttctcccagtgc       c.*1020

          .         .         .         .         .         .       g.161761
 tgacttgggacaaaacagttcagcctttgtctcgacgcagataaaagcacctgtaagcaa       c.*1080

          .         .         .         .         .         .       g.161821
 tgctgtccagtcattttatgtgctgatttctcaaatctgcaataatccatcaggttaatg       c.*1140

          .         .         .         .         .         .       g.161881
 tttttacctgaaaataaagaaagtttgcttcacctttttgtttatagttttgtgctgtat       c.*1200

          .         .         .         .         .         .       g.161941
 gcataactttcaattgtatagatgtatttcaatgcaaggaaatccacatatctccatgat       c.*1260

          .         .         .         .         .         .       g.162001
 tcgggtcatggctgattttgctattcaaacaatttataatagcaacttgaagaaactaaa       c.*1320

          .         .         .         .         .         .       g.162061
 atgtgaagagaaaatgggaggagattccttcctaaggtccaaaactaggcctgtggcata       c.*1380

          .         .         .         .         .         .       g.162121
 aatttgaaggaattttccataattcatctccttgaaaataagagatgagctagttttttt       c.*1440

          .         .         .         .         .         .       g.162181
 ttttaattgaactttgagaaatcaatttttttgactgttctgtaagttttaattaattga       c.*1500

          .         .         .         .         .         .       g.162241
 cacaaaagcccttttccctatcccaccacccaaaagaaactcagtggcttgtttgacata       c.*1560

          .         .         .         .         .         .       g.162301
 gattgctgtgtcaatttacacttaaatggccttatatggaaatgtcccctcctgagagtt       c.*1620

          .         .         .         .         .         .       g.162361
 cacttgggcagtgaccccattaagtggaagggaactgtcagaggagttgggggcagagaa       c.*1680

          .         .         .         .         .         .       g.162421
 ttctctccctgtctctgcagagactgacaagtgaatggcttttccctgaaatccaagaag       c.*1740

          .         .         .         .         .         .       g.162481
 ggaattgtgtttctgcagttttcaccactaacagcacagttgctgagcagcttcatcaag       c.*1800

          .         .         .         .         .         .       g.162541
 tgaagttaaagactgaaacaatttgttttcaactgttctgatatcttcctgcaaattaag       c.*1860

          .         .         .         .         .         .       g.162601
 cacaaggatttttgtgtgaacatagcattttgttcctgatttttaaagggttctgttaaa       c.*1920

          .         .         .         .         .         .       g.162661
 atttagacatgtataaacaaaataatgtttcatctgtacttgacattttatccatgttgc       c.*1980

          .         .         .         .         .         .       g.162721
 agccctggcaaatttggcctcattgattccagcatctaataagtatatatgatgattttg       c.*2040

          .         .         .         .         .         .       g.162781
 actcaaactctaaagtcttgagtgtttcaaagtcagtcgttacctgtttaaaagcctcag       c.*2100

          .         .         .         .         .         .       g.162841
 cctttagcttattcctccttcaatacacgggacctttggttaatttggggcaggaaaact       c.*2160

          .         .         .         .         .         .       g.162901
 cttaaagtaatctctcttggcagaggccttattgcaccagagggaaaaagtatatacttc       c.*2220

          .         .         .         .         .         .       g.162961
 atttgctgttactccagttatgccttaaattcatttgcttggtaatcctatcaacgagca       c.*2280

          .         .         .         .         .         .       g.163021
 ctaacttcttagtatactttaaacacttagttgggtaacaactgagattttgttgtcctt       c.*2340

          .         .         .         .         .         .       g.163081
 tattttttgctgagatggagtcagtcagatgttagtcatagctaacaccgaatttgtgtt       c.*2400

          .         .         .         .         .         .       g.163141
 gtcatttagacagttactgattcgatctgctttatatatgagaacgtatttttaactatt       c.*2460

          .         .         .         .         .         .       g.163201
 ccaagaaggaagaggtagctaaatgtaatcccctcttcctatccccccagaaaactgaac       c.*2520

          .         .         .         .         .         .       g.163261
 tgtaagttctaggtagactaattgggagcagacacggagttttagatgccttagccaaac       c.*2580

          .         .         .         .         .         .       g.163321
 ccagcagaaacctttcacacagccactcatcgtaagaaacgcagatttttctcttctcat       c.*2640

          .         .         .         .         .         .       g.163381
 gcttgtctctggttccctgcatttgtagtgacagaactttcactagcaggatataaagaa       c.*2700

          .         .         .         .         .         .       g.163441
 agtaattatgcttggagtccctctttactgggtttgagttaggtgcataacatggaaagg       c.*2760

          .         .         .         .         .         .       g.163501
 agtggtgccttcaaatgaatgtgaccactccgtattgtggagtgacttccctagggcatc       c.*2820

          .         .         .         .         .         .       g.163561
 ctatacatcctaccacagaaggccaagggacagagcaccaacttcagtatccaagaaatt       c.*2880

          .         .         .         .         .         .       g.163621
 agatccacaactcttgattttccacactgaggactgtcgcgagtaagttgtaagtttgcc       c.*2940

          .         .         .         .         .         .       g.163681
 gtcttccttctggcttagcaggtgctgcagctgtactctcgactcctgtctgtgagcgtg       c.*3000

          .         .         .         .         .         .       g.163741
 agctcaggaaatgagagtggagtctattccaaaaaaaaaatgtgatgaagtttttcataa       c.*3060

          .         .         .         .         .         .       g.163801
 aagtgcattcatatgccaaatcctttttggaggattctggatgctattgttcatttctct       c.*3120

          .         .         .         .         .         .       g.163861
 actagtaaaatgatcaagccttcatttattttaggctttgttttttgatccattttgttt       c.*3180

          .         .         .         .         .         .       g.163921
 tccctgctgtaatgagaataattgtttggaaatgtcatattctgtatttatgattctctg       c.*3240

          .         .         .         .         .         .       g.163981
 agaaatgcttttgtataagtcttaggtttgacattgcagtagttgacatacacggtaaag       c.*3300

          .         .         .         .         .         .       g.164041
 gataacctagtgacaaatcactgaagatgcttcctttgttacctcaaaaaaaaaaatcca       c.*3360

          .         .         .         .         .         .       g.164101
 gacaaaatagcatttataaatatagaaaacaggattggctgttttccaagaacttcaagt       c.*3420

          .         .         .         .         .         .       g.164161
 taacaattcttatgcaaggaaaagttcttaatgctaaagacttgttctgcatgaaggaga       c.*3480

          .         .         .         .         .         .       g.164221
 cattctttaataatggaagaggtggttttatttttactacaagccgactcatatttccaa       c.*3540

          .         .         .         .         .         .       g.164281
 acctataaccaattgctgatctcctgtgtaaagcatttttttccttttatctgaaacagt       c.*3600

          .         .         .         .         .         .       g.164341
 gatttatatgaactgttggaataatggaacctcaaactacagatgtgtatgtaaaattgc       c.*3660

          .         .         .         .         .                 g.164398
 ataaatgcactgacttccttctccctgactatatttttaataaacagcattatccta          c.*3717

 (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 10th nucleotide is indicated by a "." above the sequence. The Thyroid hormone receptor interactor 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 10th 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.

Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center