TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1) - coding DNA reference sequence

(used for variant description)

(last modified December 6, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_004606.3 in the TAF1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012771.2, covering TAF1 transcript NM_004606.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5051
          aagggagctcagtaagtcacttctgggcgactgttgttttatttccggtct       c.-1

          .         .         .         .         .         .       g.5111
 ATGGGACCCGGCTGCGATTTGCTGCTGCGGACAGCAGCTACCATCACTGCTGCCGCCATC       c.60
 M  G  P  G  C  D  L  L  L  R  T  A  A  T  I  T  A  A  A  I         p.20

          .         .         .         .         .         .       g.5171
 ATGTCAGACACGGACAGCGACGAAGATTCCGCTGGAGGCGGCCCATTTTCTTTAGCGGGT       c.120
 M  S  D  T  D  S  D  E  D  S  A  G  G  G  P  F  S  L  A  G         p.40

          .         .         .         .         .         .       g.5231
 TTCCTTTTCGGCAACATCAATGGAGCCGGGCAGCTGGAGGGGGAAAGCGTCTTGGATGAT       c.180
 F  L  F  G  N  I  N  G  A  G  Q  L  E  G  E  S  V  L  D  D         p.60

  | 02       .         .         .         .         .         .    g.6295
  | GAATGTAAGAAGCACTTGGCAGGCTTGGGGGCTTTGGGGCTGGGCAGCCTGATCACTGAA    c.240
  | E  C  K  K  H  L  A  G  L  G  A  L  G  L  G  S  L  I  T  E      p.80

          .         .         .         .         .      | 03  .    g.6795
 CTCACGGCAAATGAAGAATTGACCGGGACTGACGGTGCCTTGGTAAATGATGAAG | GGTGG    c.300
 L  T  A  N  E  E  L  T  G  T  D  G  A  L  V  N  D  E  G |   W      p.100

          .         .         .         .         .         .       g.6855
 GTTAGGAGTACAGAAGATGCTGTGGACTATTCAGACATCAATGAGGTGGCAGAAGATGAA       c.360
 V  R  S  T  E  D  A  V  D  Y  S  D  I  N  E  V  A  E  D  E         p.120

          .         .         .         .         .   | 04     .    g.13911
 AGCCGAAGATACCAGCAGACGATGGGGAGCTTGCAGCCCCTTTGCCACTCAG | ATTATGAT    c.420
 S  R  R  Y  Q  Q  T  M  G  S  L  Q  P  L  C  H  S  D |   Y  D      p.140

          .         .         .         .         .         .       g.13971
 GAAGATGACTATGATGCTGATTGTGAAGACATTGATTGCAAGTTGATGCCTCCTCCACCT       c.480
 E  D  D  Y  D  A  D  C  E  D  I  D  C  K  L  M  P  P  P  P         p.160

          .         .         .         .         .   | 05     .    g.15694
 CCACCCCCGGGACCAATGAAGAAGGATAAGGACCAGGATTCTATTACTGGTG | TGTCTGAA    c.540
 P  P  P  G  P  M  K  K  D  K  D  Q  D  S  I  T  G  V |   S  E      p.180

          .         .         .         .         .         .       g.15754
 AATGGAGAAGGCATCATCTTGCCCTCCATCATTGCCCCTTCCTCTTTGGCCTCAGAGAAA       c.600
 N  G  E  G  I  I  L  P  S  I  I  A  P  S  S  L  A  S  E  K         p.200

          .         .         .         .         .         .       g.15814
 GTGGACTTCAGTAGTTCCTCTGACTCAGAATCTGAGATGGGACCTCAGGAAGCAACACAG       c.660
 V  D  F  S  S  S  S  D  S  E  S  E  M  G  P  Q  E  A  T  Q         p.220

          .         .         .         .         .         .       g.15874
 GCAGAATCTGAAGATGGAAAGCTGACCCTTCCATTGGCTGGGATTATGCAGCATGATGCC       c.720
 A  E  S  E  D  G  K  L  T  L  P  L  A  G  I  M  Q  H  D  A         p.240

          .         .         .         .         .     | 06   .    g.16345
 ACCAAGCTGTTGCCAAGTGTCACAGAACTTTTTCCAGAATTTCGACCTGGAAAG | GTGTTA    c.780
 T  K  L  L  P  S  V  T  E  L  F  P  E  F  R  P  G  K   | V  L      p.260

          .         .         .         .         .         .       g.16405
 CGTTTTCTACGTCTTTTTGGACCAGGGAAGAATGTCCCATCTGTTTGGCGGAGTGCTCGG       c.840
 R  F  L  R  L  F  G  P  G  K  N  V  P  S  V  W  R  S  A  R         p.280

          .         .         .         .         .         .       g.16465
 AGAAAGAGGAAGAAGAAGCACCGTGAGCTGATACAGGAAGAGCAGATCCAGGAGGTGGAG       c.900
 R  K  R  K  K  K  H  R  E  L  I  Q  E  E  Q  I  Q  E  V  E         p.300

          .         .         .         .         .         .       g.16525
 TGCTCAGTAGAATCAGAAGTCAGCCAGAAGTCTTTGTGGAACTACGACTACGCTCCACCA       c.960
 C  S  V  E  S  E  V  S  Q  K  S  L  W  N  Y  D  Y  A  P  P         p.320

          .         .         .    | 07    .         .         .    g.16998
 CCACCTCCAGAGCAGTGTCTCTCTGATGATGAA | ATCACGATGATGGCTCCTGTGGAGTCC    c.1020
 P  P  P  E  Q  C  L  S  D  D  E   | I  T  M  M  A  P  V  E  S      p.340

          .         .         .         .         .         .       g.17058
 AAATTTTCCCAATCAACTGGAGATATAGATAAAGTGACAGATACCAAACCAAGAGTGGCT       c.1080
 K  F  S  Q  S  T  G  D  I  D  K  V  T  D  T  K  P  R  V  A         p.360

          .         .         .         .         .         .       g.17118
 GAGTGGCGTTATGGGCCTGCCCGACTGTGGTATGATATGCTGGGTGTCCCTGAAGATGGC       c.1140
 E  W  R  Y  G  P  A  R  L  W  Y  D  M  L  G  V  P  E  D  G         p.380

          .         .         .         .         .         .       g.17178
 AGTGGGTTTGACTATGGCTTCAAACTGAGAAAGACAGAACATGAACCTGTGATAAAATCT       c.1200
 S  G  F  D  Y  G  F  K  L  R  K  T  E  H  E  P  V  I  K  S         p.400

          .   | 08     .         .         .         .         .    g.17608
 AGAATGATAGAG | GAATTTAGGAAACTTGAGGAAAACAATGGCACTGATCTTCTGGCTGAT    c.1260
 R  M  I  E   | E  F  R  K  L  E  E  N  N  G  T  D  L  L  A  D      p.420

          .         .         .         .         .         .       g.17668
 GAAAACTTCCTGATGGTGACACAGCTGCATTGGGAGGATGATATCATCTGGGATGGGGAG       c.1320
 E  N  F  L  M  V  T  Q  L  H  W  E  D  D  I  I  W  D  G  E         p.440

          .         .         .         .         .         .       g.17728
 GATGTCAAACACAAAGGGACAAAACCTCAGCGTGCAAGCCTGGCAGGCTGGCTTCCTTCT       c.1380
 D  V  K  H  K  G  T  K  P  Q  R  A  S  L  A  G  W  L  P  S         p.460

          .         .         .         . | 09       .         .    g.20499
 AGCATGACTAGGAATGCGATGGCTTACAATGTTCAGCAAG | GTTTTGCAGCCACTCTTGAT    c.1440
 S  M  T  R  N  A  M  A  Y  N  V  Q  Q  G |   F  A  A  T  L  D      p.480

          .         .         .         .         .         .       g.20559
 GATGACAAACCTTGGTACTCCATTTTTCCCATTGACAATGAGGATCTGGTATATGGACGC       c.1500
 D  D  K  P  W  Y  S  I  F  P  I  D  N  E  D  L  V  Y  G  R         p.500

          .         .         .         .         .         .       g.20619
 TGGGAGGACAATATCATTTGGGATGCTCAGGCCATGCCCCGGCTGTTGGAACCTCCTGTT       c.1560
 W  E  D  N  I  I  W  D  A  Q  A  M  P  R  L  L  E  P  P  V         p.520

          .         .         .        | 10.         .         .    g.21295
 TTGACACTTGATCCCAATGATGAGAACCTCATTTTGG | AAATTCCTGATGAGAAGGAAGAG    c.1620
 L  T  L  D  P  N  D  E  N  L  I  L  E |   I  P  D  E  K  E  E      p.540

          .         .         .         .         .         .       g.21355
 GCCACCTCTAACTCCCCCTCCAAGGAGAGTAAGAAGGAATCATCTCTGAAGAAGAGTCGA       c.1680
 A  T  S  N  S  P  S  K  E  S  K  K  E  S  S  L  K  K  S  R         p.560

          .         .         .         .      | 11  .         .    g.21512
 ATTCTCTTAGGGAAAACAGGAGTCATCAAGGAGGAACCACAGCAG | AACATGTCTCAGCCA    c.1740
 I  L  L  G  K  T  G  V  I  K  E  E  P  Q  Q   | N  M  S  Q  P      p.580

          .         .         .         .         .         .       g.21572
 GAAGTGAAAGATCCATGGAATCTCTCCAATGATGAGTATTATTATCCCAAGCAACAGGGT       c.1800
 E  V  K  D  P  W  N  L  S  N  D  E  Y  Y  Y  P  K  Q  Q  G         p.600

          .         .         .    | 12    .         .         .    g.21754
 CTTCGAGGCACCTTTGGAGGGAATATTATCCAG | CATTCAATTCCTGCTGTGGAATTACGG    c.1860
 L  R  G  T  F  G  G  N  I  I  Q   | H  S  I  P  A  V  E  L  R      p.620

          .         .         .         .         .         .       g.21814
 CAGCCCTTCTTTCCCACCCACATGGGGCCCATCAAACTCCGGCAGTTCCATCGCCCACCT       c.1920
 Q  P  F  F  P  T  H  M  G  P  I  K  L  R  Q  F  H  R  P  P         p.640

          .         .         .         .         .         .       g.21874
 CTGAAAAAGTACTCATTTGGTGCACTTTCTCAGCCAGGTCCCCACTCAGTCCAACCTTTG       c.1980
 L  K  K  Y  S  F  G  A  L  S  Q  P  G  P  H  S  V  Q  P  L         p.660

          .         .        | 13.         .         .         .    g.22731
 CTAAAGCACATCAAAAAAAAGGCCAAG | ATGAGAGAACAAGAGAGGCAAGCTTCAGGTGGT    c.2040
 L  K  H  I  K  K  K  A  K   | M  R  E  Q  E  R  Q  A  S  G  G      p.680

          .         .         .         .         .         .       g.22791
 GGAGAGATGTTTTTTATGCGCACACCTCAGGACCTCACAGGCAAAGATGGTGATCTTATT       c.2100
 G  E  M  F  F  M  R  T  P  Q  D  L  T  G  K  D  G  D  L  I         p.700

          .         .         .         .         .         .       g.22851
 CTTGCAGAATATAGTGAGGAAAATGGACCCTTAATGATGCAGGTTGGCATGGCAACCAAG       c.2160
 L  A  E  Y  S  E  E  N  G  P  L  M  M  Q  V  G  M  A  T  K         p.720

          .         .  | 14      .         .         .         .    g.23720
 ATAAAGAACTATTATAAACGG | AAACCTGGAAAAGATCCTGGAGCACCAGATTGTAAATAT    c.2220
 I  K  N  Y  Y  K  R   | K  P  G  K  D  P  G  A  P  D  C  K  Y      p.740

          .         .         .         .         .         .       g.23780
 GGGGAAACTGTTTACTGCCATACATCTCCTTTCCTGGGTTCTCTCCATCCTGGCCAATTG       c.2280
 G  E  T  V  Y  C  H  T  S  P  F  L  G  S  L  H  P  G  Q  L         p.760

        | 15 .         .         .         .         .         .    g.26051
 CTGCAA | GCATTTGAGAACAACCTTTTTCGTGCTCCAATTTATCTTCATAAGATGCCAGAA    c.2340
 L  Q   | A  F  E  N  N  L  F  R  A  P  I  Y  L  H  K  M  P  E      p.780

          .         .         .         .         .         .       g.26111
 ACTGATTTCTTGATCATTCGGACAAGACAGGGTTACTATATTCGGGAATTAGTGGATATT       c.2400
 T  D  F  L  I  I  R  T  R  Q  G  Y  Y  I  R  E  L  V  D  I         p.800

          .         .         .         .         .         .       g.26171
 TTTGTGGTTGGCCAGCAGTGTCCCTTGTTTGAAGTTCCTGGGCCTAACTCCAAAAGGGCC       c.2460
 F  V  V  G  Q  Q  C  P  L  F  E  V  P  G  P  N  S  K  R  A         p.820

          .         .        | 16.         .         .         .    g.27006
 AATACGCATATTCGAGACTTTCTACAG | GTTTTTATTTACCGCCTTTTCTGGAAAAGTAAA    c.2520
 N  T  H  I  R  D  F  L  Q   | V  F  I  Y  R  L  F  W  K  S  K      p.840

          .         .         .         .         .         .       g.27066
 GATCGGCCACGGAGGATACGAATGGAAGATATAAAAAAAGCCTTTCCTTCCCATTCAGAA       c.2580
 D  R  P  R  R  I  R  M  E  D  I  K  K  A  F  P  S  H  S  E         p.860

          .         .         .         .          | 17        .    g.27485
 AGCAGCATCCGGAAGAGGCTAAAGCTCTGCGCTGACTTCAAACGCACAG | GGATGGACTCA    c.2640
 S  S  I  R  K  R  L  K  L  C  A  D  F  K  R  T  G |   M  D  S      p.880

          .         .         .         .         .         .       g.27545
 AACTGGTGGGTGCTTAAGTCTGATTTTCGTTTACCAACGGAAGAAGAGATCAGAGCTATG       c.2700
 N  W  W  V  L  K  S  D  F  R  L  P  T  E  E  E  I  R  A  M         p.900

          .         .         .         .         .         .       g.27605
 GTGTCACCAGAGCAGTGCTGTGCTTATTATAGCATGATAGCTGCAGAGCAACGACTGAAG       c.2760
 V  S  P  E  Q  C  C  A  Y  Y  S  M  I  A  A  E  Q  R  L  K         p.920

  | 18       .         .         .         .         .         .    g.28381
  | GATGCTGGCTATGGTGAGAAATCCTTTTTTGCTCCAGAAGAAGAAAATGAGGAAGATTTC    c.2820
  | D  A  G  Y  G  E  K  S  F  F  A  P  E  E  E  N  E  E  D  F      p.940

          .         .  | 19      .         .         .         .    g.31344
 CAGATGAAGATTGATGATGAA | GTTCGCACTGCCCCTTGGAACACCACAAGGGCCTTCATT    c.2880
 Q  M  K  I  D  D  E   | V  R  T  A  P  W  N  T  T  R  A  F  I      p.960

          .         .         .         .         .         .       g.31404
 GCTGCCATGAAGGGCAAGTGTCTGCTAGAGGTGACTGGGGTGGCAGATCCCACGGGGTGT       c.2940
 A  A  M  K  G  K  C  L  L  E  V  T  G  V  A  D  P  T  G  C         p.980

          .         .         .         .         .  | 20      .    g.31620
 GGTGAAGGATTCTCCTATGTGAAGATTCCAAACAAACCAACACAGCAGAAG | GATGATAAA    c.3000
 G  E  G  F  S  Y  V  K  I  P  N  K  P  T  Q  Q  K   | D  D  K      p.1000

          .         .         .         .         .         .       g.31680
 GAACCGCAGCCAGTGAAGAAGACAGTGACAGGAACAGATGCAGACCTTCGTCGCCTTTCC       c.3060
 E  P  Q  P  V  K  K  T  V  T  G  T  D  A  D  L  R  R  L  S         p.1020

          .         .         .         .         .  | 21      .    g.32046
 CTGAAAAATGCCAAGCAACTTCTACGTAAATTTGGTGTGCCTGAGGAAGAG | ATTAAAAAG    c.3120
 L  K  N  A  K  Q  L  L  R  K  F  G  V  P  E  E  E   | I  K  K      p.1040

          .         .         .         .         .         .       g.32106
 TTGTCCCGCTGGGAAGTGATTGATGTGGTGCGCACAATGTCAACAGAACAGGCTCGTTCT       c.3180
 L  S  R  W  E  V  I  D  V  V  R  T  M  S  T  E  Q  A  R  S         p.1060

          .         .         .         .         .         .       g.32166
 GGAGAGGGGCCCATGAGTAAATTTGCCCGTGGATCAAGGTTTTCTGTGGCTGAGCATCAA       c.3240
 G  E  G  P  M  S  K  F  A  R  G  S  R  F  S  V  A  E  H  Q         p.1080

          .         .         .         .        | 22.         .    g.32816
 GAGCGTTACAAAGAGGAATGTCAGCGCATCTTTGACCTACAGAACAA | GGTTCTGTCATCA    c.3300
 E  R  Y  K  E  E  C  Q  R  I  F  D  L  Q  N  K  |  V  L  S  S      p.1100

          .         .         .         .         .         .       g.32876
 ACTGAAGTCTTATCAACTGACACAGACAGCAGCTCAGCTGAAGATAGTGACTTTGAAGAA       c.3360
 T  E  V  L  S  T  D  T  D  S  S  S  A  E  D  S  D  F  E  E         p.1120

          .         .         .         .         .         .       g.32936
 ATGGGAAAGAACATTGAGAACATGTTGCAGAACAAGAAAACCAGCTCTCAGCTTTCACGT       c.3420
 M  G  K  N  I  E  N  M  L  Q  N  K  K  T  S  S  Q  L  S  R         p.1140

          .         .         .         .       | 23 .         .    g.36003
 GAACGGGAGGAACAGGAGCGGAAGGAACTACAGCGAATGCTACTGG | CAGCAGGCTCAGCA    c.3480
 E  R  E  E  Q  E  R  K  E  L  Q  R  M  L  L  A |   A  G  S  A      p.1160

          .         .         .         .         .         .       g.36063
 GCATCCGGAAACAATCACAGAGATGATGACACAGCTTCCGTGACTAGCCTTAACTCTTCT       c.3540
 A  S  G  N  N  H  R  D  D  D  T  A  S  V  T  S  L  N  S  S         p.1180

          .         .         .         .         .         .       g.36123
 GCCACTGGACGCTGTCTCAAGATTTATCGCACGTTTCGAGATGAAGAGGGGAAAGAGTAT       c.3600
 A  T  G  R  C  L  K  I  Y  R  T  F  R  D  E  E  G  K  E  Y         p.1200

          .         .         .         .         .         .       g.36183
 GTTCGCTGTGAGACAGTCCGAAAACCAGCTGTCATTGATGCCTATGTGCGCATACGGACT       c.3660
 V  R  C  E  T  V  R  K  P  A  V  I  D  A  Y  V  R  I  R  T         p.1220

          .         . | 24       .         .         .         .    g.37348
 ACAAAAGATGAGGAATTCAT | TCGAAAATTTGCCCTTTTTGATGAACAACATCGGGAAGAG    c.3720
 T  K  D  E  E  F  I  |  R  K  F  A  L  F  D  E  Q  H  R  E  E      p.1240

          .         .         .         .         .         .       g.37408
 ATGCGAAAAGAACGGCGGAGGATTCAAGAGCAACTGAGGCGGCTTAAGAGGAACCAGGAA       c.3780
 M  R  K  E  R  R  R  I  Q  E  Q  L  R  R  L  K  R  N  Q  E         p.1260

          .         .         .         .         .         .       g.37468
 AAGGAGAAGCTTAAGGGTCCTCCTGAGAAGAAGCCCAAGAAAATGAAGGAGCGTCCTGAC       c.3840
 K  E  K  L  K  G  P  P  E  K  K  P  K  K  M  K  E  R  P  D         p.1280

        | 25 .         .         .         .         .         .    g.40318
 CTAAAA | CTGAAATGTGGGGCATGTGGTGCCATTGGACACATGAGGACTAACAAATTCTGC    c.3900
 L  K   | L  K  C  G  A  C  G  A  I  G  H  M  R  T  N  K  F  C      p.1300

          .         .         .         .         .         .       g.40378
 CCCCTCTATTATCAAACAAATGCGCCACCTTCCAACCCTGTTGCCATGACAGAAGAACAG       c.3960
 P  L  Y  Y  Q  T  N  A  P  P  S  N  P  V  A  M  T  E  E  Q         p.1320

          .         .         .         .         .         .       g.40438
 GAGGAGGAGTTGGAAAAGACAGTCATTCATAATGATAATGAAGAACTTATCAAGGTTGAA       c.4020
 E  E  E  L  E  K  T  V  I  H  N  D  N  E  E  L  I  K  V  E         p.1340

          .         .         .         | 26         .         .    g.45396
 GGGACCAAAATTGTCTTGGGGAAACAGCTAATTGAGAG | TGCGGATGAGGTTCGCAGAAAA    c.4080
 G  T  K  I  V  L  G  K  Q  L  I  E  S  |  A  D  E  V  R  R  K      p.1360

          .         .         .         .         .         .       g.45456
 TCTCTGGTTCTCAAGTTTCCTAAACAGCAGCTTCCTCCAAAGAAGAAACGGCGAGTTGGA       c.4140
 S  L  V  L  K  F  P  K  Q  Q  L  P  P  K  K  K  R  R  V  G         p.1380

          .         .        | 27.         .         .         .    g.46343
 ACCACTGTTCACTGTGACTATTTGAAT | AGACCTCATAAGTCCATCCACCGGCGCCGCACA    c.4200
 T  T  V  H  C  D  Y  L  N   | R  P  H  K  S  I  H  R  R  R  T      p.1400

          .         .         .         .         .         .       g.46403
 GACCCTATGGTGACGCTGTCGTCCATCTTGGAGTCTATCATCAATGACATGAGAGATCTT       c.4260
 D  P  M  V  T  L  S  S  I  L  E  S  I  I  N  D  M  R  D  L         p.1420

        | 28 .         .         .         .         .         .    g.46764
 CCAAAT | ACATACCCTTTCCACACTCCAGTCAATGCAAAGGTTGTAAAGGACTACTACAAA    c.4320
 P  N   | T  Y  P  F  H  T  P  V  N  A  K  V  V  K  D  Y  Y  K      p.1440

          .         .         .         .         .         .       g.46824
 ATCATCACTCGGCCAATGGACCTACAAACACTCCGCGAAAACGTGCGTAAACGCCTCTAC       c.4380
 I  I  T  R  P  M  D  L  Q  T  L  R  E  N  V  R  K  R  L  Y         p.1460

          .         .         .         .         .         .       g.46884
 CCATCTCGGGAAGAGTTCAGAGAGCATCTGGAGCTAATTGTGAAAAATAGTGCAACCTAC       c.4440
 P  S  R  E  E  F  R  E  H  L  E  L  I  V  K  N  S  A  T  Y         p.1480

      | 29   .         .         .         .         .         .    g.60101
 AATG | GGCCAAAACACTCATTGACTCAGATCTCTCAATCCATGCTGGATCTCTGTGATGAA    c.4500
 N  G |   P  K  H  S  L  T  Q  I  S  Q  S  M  L  D  L  C  D  E      p.1500

          .   | 30     .         .         .         .         .    g.61901
 AAACTCAAAGAG | AAAGAAGACAAATTAGCTCGCTTAGAGAAAGCTATCAACCCCTTGCTG    c.4560
 K  L  K  E   | K  E  D  K  L  A  R  L  E  K  A  I  N  P  L  L      p.1520

          .         .         .         .         .         .       g.61961
 GATGATGATGACCAAGTGGCGTTTTCTTTCATTCTGGACAACATTGTCACCCAGAAAATG       c.4620
 D  D  D  D  Q  V  A  F  S  F  I  L  D  N  I  V  T  Q  K  M         p.1540

          .      | 31  .         .         .         .         .    g.62755
 ATGGCAGTTCCAGAT | TCTTGGCCATTTCATCACCCAGTTAATAAGAAATTTGTTCCAGAT    c.4680
 M  A  V  P  D   | S  W  P  F  H  H  P  V  N  K  K  F  V  P  D      p.1560

          .         .         .         .         | 32         .    g.62902
 TATTACAAAGTGATTGTCAATCCAATGGATTTAGAGACCATACGTAAG | AACATCTCCAAG    c.4740
 Y  Y  K  V  I  V  N  P  M  D  L  E  T  I  R  K   | N  I  S  K      p.1580

          .         .         .         .         .         .       g.62962
 CACAAGTATCAGAGTCGGGAGAGCTTTCTGGATGATGTAAACCTTATTCTGGCCAACAGT       c.4800
 H  K  Y  Q  S  R  E  S  F  L  D  D  V  N  L  I  L  A  N  S         p.1600

          .    | 33    .         .         .         .         .    g.92953
 GTTAAGTATAATG | GACCTGAGAGTCAGTATACTAAGACTGCCCAGGAGATTGTGAACGTC    c.4860
 V  K  Y  N  G |   P  E  S  Q  Y  T  K  T  A  Q  E  I  V  N  V      p.1620

          .         .  | 34      .         .         .         .    g.93516
 TGTTACCAGACATTGACTGAG | TATGATGAACATTTGACTCAACTTGAGAAGGATATTTGT    c.4920
 C  Y  Q  T  L  T  E   | Y  D  E  H  L  T  Q  L  E  K  D  I  C      p.1640

          .         .         .         .         .         .       g.93576
 ACTGCTAAAGAAGCAGCTTTGGAGGAAGCAGAATTAGAAAGCCTGGACCCAATGACCCCA       c.4980
 T  A  K  E  A  A  L  E  E  A  E  L  E  S  L  D  P  M  T  P         p.1660

          .         | 35         .         .         .         .    g.97019
 GGGCCCTACACGCCTCAG | CCTCCTGATTTGTATGATACCAACACATCCCTCAGTATGTCT    c.5040
 G  P  Y  T  P  Q   | P  P  D  L  Y  D  T  N  T  S  L  S  M  S      p.1680

          .         .         .         .         .         .       g.97079
 CGAGATGCCTCTGTATTTCAAGATGAGAGCAATATGTCTGTCTTGGATATTCCCAGTGCC       c.5100
 R  D  A  S  V  F  Q  D  E  S  N  M  S  V  L  D  I  P  S  A         p.1700

          .         .     | 36   .         .         .         .    g.98324
 ACTCCAGAAAAGCAGGTAACACAG | GAAGGTGAAGATGGAGATGGTGATCTTGCAGATGAA    c.5160
 T  P  E  K  Q  V  T  Q   | E  G  E  D  G  D  G  D  L  A  D  E      p.1720

          .         .         .         .         .         .       g.98384
 GAGGAAGGAACTGTACAACAGCCTCAAGCCAGTGTCCTGTATGAGGATTTGCTTATGTCT       c.5220
 E  E  G  T  V  Q  Q  P  Q  A  S  V  L  Y  E  D  L  L  M  S         p.1740

          .         .         .         .         .         .       g.98444
 GAAGGAGAAGATGATGAGGAAGATGCTGGGAGTGATGAAGAAGGAGACAATCCTTTCTCT       c.5280
 E  G  E  D  D  E  E  D  A  G  S  D  E  E  G  D  N  P  F  S         p.1760

   | 37      .         .         .         .         .         .    g.99421
 G | CTATCCAGCTGAGTGAAAGTGGAAGTGACTCTGATGTGGGATCTGGTGGAATAAGACCC    c.5340
 A |   I  Q  L  S  E  S  G  S  D  S  D  V  G  S  G  G  I  R  P      p.1780

          .         .         .         .         .         .       g.99481
 AAACAACCCCGCATGCTTCAGGAGAACACAAGGATGGACATGGAAAATGAAGAAAGCATG       c.5400
 K  Q  P  R  M  L  Q  E  N  T  R  M  D  M  E  N  E  E  S  M         p.1800

          .         .         .         .         .          | 38    g.102561
 ATGTCCTATGAGGGAGACGGTGGGGAGGCTTCCCATGGTTTGGAGGATAGCAACATCAG | T    c.5460
 M  S  Y  E  G  D  G  G  E  A  S  H  G  L  E  D  S  N  I  S  |      p.1820

          .         .         .         .         .         .       g.102621
 TATGGGAGCTATGAGGAGCCTGATCCCAAGTCGAACACCCAAGACACAAGCTTCAGCAGC       c.5520
 Y  G  S  Y  E  E  P  D  P  K  S  N  T  Q  D  T  S  F  S  S         p.1840

          .         .         .         .         .         .       g.102681
 ATCGGTGGGTATGAGGTATCAGAGGAGGAAGAAGATGAGGAGGAGGAAGAGCAGCGCTCT       c.5580
 I  G  G  Y  E  V  S  E  E  E  E  D  E  E  E  E  E  Q  R  S         p.1860

          .         .         .         .         .         .       g.102741
 GGGCCGAGCGTACTAAGCCAGGTCCACCTGTCAGAGGACGAGGAGGACAGTGAGGATTTC       c.5640
 G  P  S  V  L  S  Q  V  H  L  S  E  D  E  E  D  S  E  D  F         p.1880

          .         .         .         .                           g.102783
 CACTCCATTGCTGGGGACAGTGACTTGGACTCTGATGAATGA                         c.5682
 H  S  I  A  G  D  S  D  L  D  S  D  E  X                           p.1893

          .         .         .         .         .         .       g.102843
 ggcttcctttgggcctccttggtcagccttccctgttctccagcctaggtggttcacctt       c.*60

          .         .         .         .         .         .       g.102903
 tccccaatttgttcatatttgtacagtatctgatcctgaaatcatgaaattaactaacac       c.*120

          .         .         .         .         .         .       g.102963
 cttagcctttttaaaagtagtaagtaaatgataataaatcacctctcctaatcttcctgg       c.*180

          .         .         .         .         .         .       g.103023
 ggcaatgtcaccctttgatttaaaacaaagcaaccccctttcccctaccactacggaaaa       c.*240

          .         .         .         .         .         .       g.103083
 gagcaagctcatttttccgtgtcctcctttatttaactccatttattgcttttggtataa       c.*300

          .         .         .         .         .         .       g.103143
 tttttccctggggaaggaggggaaattatgaaagaactagtaactttatgtcctcttgat       c.*360

          .         .         .         .         .         .       g.103203
 gtattaggaaatttccggccaggcgtggtggctcacacctgtaatctcagcactctggga       c.*420

          .         .         .         .         .         .       g.103263
 ggccgaggcgggcagatcacctgaggtcagaagttcgagaccagcttggccaacatggcg       c.*480

          .         .         .         .         .         .       g.103323
 aaaccgcatctctactaaaaatacaaaaattagccaggtgtggtggcgtatgcctgttaa       c.*540

          .         .         .         .         .         .       g.103383
 tcctagctactcgggaggctgaggcaggagaattacttgaacccgggaggcagaggttgc       c.*600

          .         .         .         .         .         .       g.103443
 agtgagtggaggtcacgccactgcactccagcctgggcgaaagagtgagattcagtctca       c.*660

          .         .         .         .         .         .       g.103503
 aaaaaaaaaaaatttccaagcatggtatcatctcacttttctaatttacaggctggagca       c.*720

          .         .         .         .         .         .       g.103563
 gatgagagccctcctgctgggacagagaattgggttctagtggactctgtgctacactta       c.*780

          .         .         .         .         .         .       g.103623
 aacctgtgagacaaaccgcccattattttattatttaattatgcaatgcctagttcctaa       c.*840

          .         .         .         .         .         .       g.103683
 atggattggaggcaaattaccgtaaattttgaaacagcctatatgtcagaaatgataatg       c.*900

          .         .         .         .         .         .       g.103743
 ttgccacctaaatgttttctgtcccccccaccctccccaggggaaatggtaggaaaatgg       c.*960

          .         .         .         .         .         .       g.103803
 taagtttcttagggcaaagactgtgtcttctgtttcttttcatgcttaggatatggttct       c.*1020

          .         .         .         .         .         .       g.103863
 gtgcatagtaggtactcagtaaatgttcctagaatcataaaatcctcaacagatatgtta       c.*1080

          .         .         .         .         .         .       g.103923
 ctgagcatctgcttttcatgataagcactctatcagatccttgggatgcaaaggtaaata       c.*1140

          .         .         .         .         .         .       g.103983
 agacaaatcccttttacccaaagagctcaccatcaagttgggggagggaaagtggaattc       c.*1200

          .         .         .         .         .         .       g.104043
 aaaacatgttaataaatcatcatagtactgtgagataagtgcaattaagaagctagttat       c.*1260

          .         .         .         .         .         .       g.104103
 aaagtataggggaaatagaggagtaatcatgtctgaaaagtcaggaaagtcttcctagag       c.*1320

          .         .         .         .         .         .       g.104163
 gtaatttttaagctgattgttttagaattagtagaagcttgccagatggaaaagtccagg       c.*1380

          .         .         .         .         .         .       g.104223
 caaagtgtaacatgaatgggaaaggccacagtctagaaatggcagagtgtgttcctagtt       c.*1440

          .         .         .         .         .         .       g.104283
 tgtttgtttgtttgtttgtacctgccttgttccaggaaggatttaatgtggtttatattc       c.*1500

          .         .         .         .         .         .       g.104343
 cagtcctttaatgctggaagggctgagatgagactgaaagatgggcaggaagtatatcat       c.*1560

          .         .         .         .         .         .       g.104403
 cacaagctttgtgtttgatgttaatgtgtatgatttttatattatgggaaataagctctt       c.*1620

          .         .         .         .         .         .       g.104463
 agaggagtgatataatcaggtttgtgttttagaaatctgtgtaatgaatgaatgaagaaa       c.*1680

          .         .         .         .         .         .       g.104523
 gaaattgaagaatcatgtaacatatgtgatcgcatttttgtaaaagaaccatgtgtgttt       c.*1740

          .         .         .         .         .         .       g.104583
 atatgtgtttatatatatacttgtgtatgcaaaggtaaaagtctgaaaggatatatgcta       c.*1800

          .         .         .         .         .         .       g.104643
 actgttcacaatgataaccccccaggaatgggattggaggggagggggcttctgtgtttg       c.*1860

          .         .         .         .         .         .       g.104703
 ttatgtatgctgggtgggatattgtgcttttatttctatattgtttgaatttttttacag       c.*1920

          .         .         .                                     g.104742
 tatgtattatttttgtaataaaaattttaaaaaattcca                            c.*1959

 (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 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 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.

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