centrosomal protein 250kDa (CEP250) - coding DNA reference sequence

(used for variant description)

(last modified June 16, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_007186.3 in the CEP250 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000020.10, covering CEP250 transcript NM_007186.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5047
              cccggggcccgcttgcctcagcttcttgctgccgccagcacgctaag       c.-601

 .         .         .         .         .         .                g.5107
 ctccagtcggcgccgaaggagagcttcccgaccctcgtgtccagtagccgcaatcccagg       c.-541

 .         .         .         .         .         .                g.5167
 ctgggagggtgaggcgccgcgctctgccgcccccccgcccctcgctccctgtgtcctggc       c.-481

 .         .         .         .         .         .                g.5227
 ggatttgcacgtaatctatccgaaagcccagtcccacccgccacccgactctggagctcc       c.-421

 .         .         .         .         .         .                g.5287
 cattcttcaggaccctgctgaagtatcgcttctcagccgccttctccaggcgcagctgca       c.-361

 .         .         .         .         .         .                g.5347
 ttcgcttctcggtttttgcactcgctgtgcaccgagttactttcccggcccctcgttgac       c.-301

 .   | 02     .         .         .         .         .             g.7959
 acc | gttcacaggtggctgttggtctttagtaagggtgctgtcttccctgtctgatcctta    c.-241

 .         .    | 03    .         .         .         .             g.9626
 gcaaaagtaggaag | gtagagttgttggcagaaatcctgggataagagaatagtttcctgg    c.-181

 .         .         .         .         .         .                g.9686
 aagatctgtgcctccaaccagcagagagggattgagcttcattgaactcaacagagccaa       c.-121

 .         .       | 04 .         .         .         .             g.11910
 catttcatagcaccatg | ttcaagaggaggttgaagtggcatggcaatggttagagaccct    c.-61

 .         .         .         .         .         .                g.11970
 gctgggcgtgaacaccctctggctacctagggacctgtgggcctaccacctggtgccctc       c.-1

          .         .         .         .         .         .       g.12030
 ATGGAGACAAGAAGCCCTGGGTTGAACAACATGAAGCCCCAGTCACTGCAGCTGGTACTG       c.60
 M  E  T  R  S  P  G  L  N  N  M  K  P  Q  S  L  Q  L  V  L         p.20

          .         .         .         .         .         .       g.12090
 GAAGAGCAGGTGCTGGCACTACAGCAGCAGATGGCAGAGAATCAGGCAGCCTCCTGGCGG       c.120
 E  E  Q  V  L  A  L  Q  Q  Q  M  A  E  N  Q  A  A  S  W  R         p.40

          .         .         .         .         .         .       g.12150
 AAGCTGAAGAACTCCCAGGAGGCCCAGCAGAGACAAGCAACCCTTGTGAGGAAGCTGCAG       c.180
 K  L  K  N  S  Q  E  A  Q  Q  R  Q  A  T  L  V  R  K  L  Q         p.60

        | 05 .         .         .         .         .         .    g.13231
 GCCAAG | GTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACT    c.240
 A  K   | V  L  Q  Y  R  S  W  C  Q  E  L  E  K  R  L  E  A  T      p.80

     | 06    .         .         .         .         .         .    g.15402
 GGA | GGACCAATCCCCCAGAGGTGGGAAAATGTGGAGGAGCCAAACCTGGATGAGCTGCTG    c.300
 G   | G  P  I  P  Q  R  W  E  N  V  E  E  P  N  L  D  E  L  L      p.100

          .         .       | 07 .         .         .         .    g.15675
 GTCCGATTGGAGGAGGAGCAACAGAG | GTGTGAGAGTCTAGCAGAGGTGAACACCCAGCTT    c.360
 V  R  L  E  E  E  Q  Q  R  |  C  E  S  L  A  E  V  N  T  Q  L      p.120

          .         .         .         .         .         .       g.15735
 CGACTGCACATGGAAAAAGCTGACGTGGTGAATAAAGCCCTTAGGGAAGATGTGGAAAAA       c.420
 R  L  H  M  E  K  A  D  V  V  N  K  A  L  R  E  D  V  E  K         p.140

          .         .         .         .         .         .       g.15795
 CTGACAGTGGACTGGAGCCGGGCCCGGGATGAGCTAATGAGGAAGGAGAGCCAGTGGCAG       c.480
 L  T  V  D  W  S  R  A  R  D  E  L  M  R  K  E  S  Q  W  Q         p.160

          .   | 08     .         .         .         .         .    g.16616
 ATGGAGCAGGAG | TTCTTCAAGGGCTACCTGAAAGGGGAGCACGGTCGCCTTCTCAGTCTA    c.540
 M  E  Q  E   | F  F  K  G  Y  L  K  G  E  H  G  R  L  L  S  L      p.180

          .         .         .         .         .          | 09    g.16907
 TGGCGGGAGGTTGTGACATTCCGACGCCACTTCCTGGAAATGAAGTCAGCTACTGACAG | A    c.600
 W  R  E  V  V  T  F  R  R  H  F  L  E  M  K  S  A  T  D  R  |      p.200

          .         .         .         .         .         .       g.16967
 GATCTGATGGAGCTAAAAGCTGAGCATGTGAGGCTTTCAGGGTCTCTGTTGACCTGTTGT       c.660
 D  L  M  E  L  K  A  E  H  V  R  L  S  G  S  L  L  T  C  C         p.220

          .         .         .         .         .         .       g.17027
 CTGCGCTTGACTGTGGGAGCACAGTCTCGGGAACCCAACGGATCTGGAAGAATGGATGGG       c.720
 L  R  L  T  V  G  A  Q  S  R  E  P  N  G  S  G  R  M  D  G         p.240

          .         .         .         .         .         .       g.17087
 CGGGAGCCGGCCCAGCTGCTGCTGCTACTAGCCAAGACCCAGGAGCTGGAGAAGGAAGCC       c.780
 R  E  P  A  Q  L  L  L  L  L  A  K  T  Q  E  L  E  K  E  A         p.260

          .         .         .         .         .         .       g.17147
 CATGAAAGGAGCCAGGAGTTAATACAGCTGAAGAGTCAAGGGGATCTGGAGAAGGCTGAA       c.840
 H  E  R  S  Q  E  L  I  Q  L  K  S  Q  G  D  L  E  K  A  E         p.280

          .  | 10      .         .         .         .         .    g.19541
 CTTCAGGACCG | GGTGACCGAGCTCTCTGCTCTGTTGACCCAGTCTCAGAAGCAAAATGAA    c.900
 L  Q  D  R  |  V  T  E  L  S  A  L  L  T  Q  S  Q  K  Q  N  E      p.300

          .         .         .         .         | 11         .    g.21664
 GATTATGAAAAGATGATAAAGGCTCTGAGAGAGACAGTGGAGATCCTG | GAGACAAATCAC    c.960
 D  Y  E  K  M  I  K  A  L  R  E  T  V  E  I  L   | E  T  N  H      p.320

          .         .         .         .         .         .       g.21724
 ACAGAATTAATGGAACATGAAGCATCTCTTAGTAGGAATGCGCAAGAGGAGAAGTTGTCT       c.1020
 T  E  L  M  E  H  E  A  S  L  S  R  N  A  Q  E  E  K  L  S         p.340

          .         .         . | 12       .         .         .    g.22305
 TTACAGCAGGTGATCAAGGATATAACCCAG | GTCATGGTGGAAGAAGGGGACAATATAGCC    c.1080
 L  Q  Q  V  I  K  D  I  T  Q   | V  M  V  E  E  G  D  N  I  A      p.360

          .         .         .         .         .         .       g.22365
 CAAGGCTCTGGTCATGAGAACTCTTTGGAATTGGACTCTAGTATCTTCTCCCAGTTTGAT       c.1140
 Q  G  S  G  H  E  N  S  L  E  L  D  S  S  I  F  S  Q  F  D         p.380

          .         .         .         .         .         .       g.22425
 TACCAGGATGCAGACAAGGCTCTTACTCTGGTGCGTTCAGTGCTGACTCGGAGACGCCAG       c.1200
 Y  Q  D  A  D  K  A  L  T  L  V  R  S  V  L  T  R  R  R  Q         p.400

           | 13        .         .         .         .         .    g.23027
 GCTGTGCAG | GACCTAAGGCAGCAGCTTGCAGGCTGTCAAGAGGCTGTGAACTTGTTGCAA    c.1260
 A  V  Q   | D  L  R  Q  Q  L  A  G  C  Q  E  A  V  N  L  L  Q      p.420

          .         .         .         .         .         .       g.23087
 CAGCAGCATGATCAGTGGGAGGAAGAGGGCAAAGCCTTGAGACAGCGGCTGCAGAAGCTC       c.1320
 Q  Q  H  D  Q  W  E  E  E  G  K  A  L  R  Q  R  L  Q  K  L         p.440

          .         .         .         .         .         .       g.23147
 ACTGGGGAGCGGGACACTCTGGCAGGGCAGACTGTGGACCTCCAGGGAGAGGTGGACTCT       c.1380
 T  G  E  R  D  T  L  A  G  Q  T  V  D  L  Q  G  E  V  D  S         p.460

          | 14         .         .         .         .         .    g.23524
 CTCAGCAA | GGAGCGAGAGCTGCTGCAGAAGGCCAGGGAAGAGCTGCGGCAGCAGCTGGAG    c.1440
 L  S  K  |  E  R  E  L  L  Q  K  A  R  E  E  L  R  Q  Q  L  E      p.480

          .         .         .         .         .         .       g.23584
 GTGCTAGAGCAGGAGGCATGGCGCCTGCGAAGGGTAAATGTGGAGCTTCAGCTGCAGGGG       c.1500
 V  L  E  Q  E  A  W  R  L  R  R  V  N  V  E  L  Q  L  Q  G         p.500

          .         .         .         .         .         .       g.23644
 GACTCTGCCCAGGGCCAGAAGGAGGAACAGCAGGAGGAGCTGCACCTGGCTGTCCGGGAG       c.1560
 D  S  A  Q  G  Q  K  E  E  Q  Q  E  E  L  H  L  A  V  R  E         p.520

          .  | 15      .         .         .         .         .    g.25153
 AGGGAGCGTCT | TCAGGAGATGCTGATGGGCCTGGAAGCCAAACAGTCAGAATCACTCAGT    c.1620
 R  E  R  L  |  Q  E  M  L  M  G  L  E  A  K  Q  S  E  S  L  S      p.540

          .         .         .         .         .         .       g.25213
 GAACTGATCACTCTTCGGGAAGCCCTGGAGTCAAGTCACCTGGAAGGGGAGTTACTGAGG       c.1680
 E  L  I  T  L  R  E  A  L  E  S  S  H  L  E  G  E  L  L  R         p.560

          .         .         .       | 16 .         .         .    g.26075
 CAAGAGCAAACGGAAGTGACCGCAGCGCTGGCTAGG | GCAGAGCAGTCAATTGCAGAGCTG    c.1740
 Q  E  Q  T  E  V  T  A  A  L  A  R   | A  E  Q  S  I  A  E  L      p.580

          .         .         .         .         .         .       g.26135
 TCGAGTTCTGAAAACACCCTGAAGACAGAAGTAGCTGATCTTCGGGCTGCAGCTGTCAAG       c.1800
 S  S  S  E  N  T  L  K  T  E  V  A  D  L  R  A  A  A  V  K         p.600

          .         .         .         .         .         .       g.26195
 CTCAGTGCCTTAAATGAGGCTTTGGCGTTAGATAAAGTTGGGCTGAACCAGCAGCTTCTC       c.1860
 L  S  A  L  N  E  A  L  A  L  D  K  V  G  L  N  Q  Q  L  L         p.620

     | 17    .         .         .         .         .         .    g.27530
 CAG | TTAGAGGAGGAGAACCAGTCTGTGTGCAGCAGAATGGAGGCCGCAGAGCAGGCGAGA    c.1920
 Q   | L  E  E  E  N  Q  S  V  C  S  R  M  E  A  A  E  Q  A  R      p.640

          .         .         .         .         .         .       g.27590
 AATGCTTTGCAGGTCGACCTGGCGGAGGCAGAGAAGAGGAGGGAAGCCCTGTGGGAAAAG       c.1980
 N  A  L  Q  V  D  L  A  E  A  E  K  R  R  E  A  L  W  E  K         p.660

          .         .         .         .         .         .       g.27650
 AACACTCACCTGGAGGCTCAGCTGCAGAAAGCTGAGGAGGCTGGGGCTGAGCTGCAGGCA       c.2040
 N  T  H  L  E  A  Q  L  Q  K  A  E  E  A  G  A  E  L  Q  A         p.680

          .         .         .         .         .     | 18   .    g.28839
 GATCTCAGGGACATCCAAGAAGAGAAGGAAGAAATTCAAAAGAAACTAAGTGAG | TCACGT    c.2100
 D  L  R  D  I  Q  E  E  K  E  E  I  Q  K  K  L  S  E   | S  R      p.700

          .         .         .         .         .         .       g.28899
 CACCAGCAGGAGGCAGCCACGACTCAGCTGGAGCAGCTACATCAGGAGGCAAAGCGACAG       c.2160
 H  Q  Q  E  A  A  T  T  Q  L  E  Q  L  H  Q  E  A  K  R  Q         p.720

          .         .         .         .         .         .       g.28959
 GAAGAAGTGCTTGCCAGGGCAGTCCAGGAGAAGGAGGCCCTAGTACGAGAGAAAGCGGCT       c.2220
 E  E  V  L  A  R  A  V  Q  E  K  E  A  L  V  R  E  K  A  A         p.740

          .         .         .         .         .         .       g.29019
 CTAGAGGTGCGGCTGCAGGCCGTGGAGCGTGACCGGCAGGACCTCGCTGAACAACTACAG       c.2280
 L  E  V  R  L  Q  A  V  E  R  D  R  Q  D  L  A  E  Q  L  Q         p.760

          | 19         .         .         .         .         .    g.29300
 GGGCTCAG | CTCAGCCAAGGAGCTACTGGAGAGCAGTCTGTTTGAAGCCCAACAACAAAAT    c.2340
 G  L  S  |  S  A  K  E  L  L  E  S  S  L  F  E  A  Q  Q  Q  N      p.780

          .         .         .         .         .         .       g.29360
 TCTGTGATAGAGGTCACCAAGGGGCAGCTGGAGGTCCAGATTCAAACTGTCACTCAAGCC       c.2400
 S  V  I  E  V  T  K  G  Q  L  E  V  Q  I  Q  T  V  T  Q  A         p.800

          .       | 20 .         .         .         .         .    g.29622
 AAGGAAGTAATCCAAG | GGGAAGTGAGGTGCCTGAAGCTGGAACTGGACACTGAACGGAGT    c.2460
 K  E  V  I  Q  G |   E  V  R  C  L  K  L  E  L  D  T  E  R  S      p.820

          .         .         .         .         .         .       g.29682
 CAGGCAGAGCAGGAGCGGGATGCTGCAGCCAGACAGCTGGCCCAGGCTGAGCAAGAAGGG       c.2520
 Q  A  E  Q  E  R  D  A  A  A  R  Q  L  A  Q  A  E  Q  E  G         p.840

          .         .         .         .         .         .       g.29742
 AAGACTGCCTTGGAGCAGCAGAAGGCAGCCCATGAGAAAGAGGTGAACCAGCTCCGGGAG       c.2580
 K  T  A  L  E  Q  Q  K  A  A  H  E  K  E  V  N  Q  L  R  E         p.860

        | 21 .         .         .         .         .         .    g.40294
 AAATGG | GAGAAGGAGCGCTCCTGGCACCAGCAGGAGCTGGCAAAGGCTCTGGAGAGCTTA    c.2640
 K  W   | E  K  E  R  S  W  H  Q  Q  E  L  A  K  A  L  E  S  L      p.880

          .         .         .         .         .         .       g.40354
 GAAAGGGAAAAAATGGAGCTGGAAATGAGGCTAAAGGAGCAGCAGACAGAAATGGAGGCC       c.2700
 E  R  E  K  M  E  L  E  M  R  L  K  E  Q  Q  T  E  M  E  A         p.900

          .         .         .         .         .     | 22   .    g.40821
 ATCCAGGCCCAGAGGGAAGAAGAACGGACCCAGGCAGAGAGTGCCCTATGCCAG | ATGCAG    c.2760
 I  Q  A  Q  R  E  E  E  R  T  Q  A  E  S  A  L  C  Q   | M  Q      p.920

          .         .         .         .         .         .       g.40881
 CTGGAAACAGAGAAGGAGAGAGTATCCCTCCTGGAGACACTGCTGCAGACGCAGAAGGAG       c.2820
 L  E  T  E  K  E  R  V  S  L  L  E  T  L  L  Q  T  Q  K  E         p.940

          .         .         .         .         .         .       g.40941
 CTAGCAGATGCCAGCCAACAACTGGAACGACTGAGGCAGGACATGAAAGTCCAGAAATTA       c.2880
 L  A  D  A  S  Q  Q  L  E  R  L  R  Q  D  M  K  V  Q  K  L         p.960

           | 23        .         .         .         .         .    g.43084
 AAGGAGCAG | GAGACCACTGGGATACTACAGACCCAGCTCCAGGAGGCTCAACGGGAGCTG    c.2940
 K  E  Q   | E  T  T  G  I  L  Q  T  Q  L  Q  E  A  Q  R  E  L      p.980

          .         .         .         .         .         .       g.43144
 AAGGAGGCAGCCCGGCAGCACAGAGATGACCTTGCTGCCCTCCAAGAAGAGAGCAGCTCC       c.3000
 K  E  A  A  R  Q  H  R  D  D  L  A  A  L  Q  E  E  S  S  S         p.1000

          .         .         .    | 24    .         .         .    g.44155
 CTGCTGCAGGATAAGATGGACCTGCAGAAGCAG | GTGGAGGACTTGAAGTCTCAGCTGGTG    c.3060
 L  L  Q  D  K  M  D  L  Q  K  Q   | V  E  D  L  K  S  Q  L  V      p.1020

          .         .         .         .         .         .       g.44215
 GCCCAGGATGACTCCCAGAGGCTGGTGGAGCAGGAGGTTCAGGAGAAGCTGAGAGAGACC       c.3120
 A  Q  D  D  S  Q  R  L  V  E  Q  E  V  Q  E  K  L  R  E  T         p.1040

          .         .         .         .        | 25.         .    g.46196
 CAGGAGTATAACCGAATTCAGAAGGAGCTGGAGAGAGAGAAAGCCAG | CCTGACTCTGTCA    c.3180
 Q  E  Y  N  R  I  Q  K  E  L  E  R  E  K  A  S  |  L  T  L  S      p.1060

          .         .         .         .         .         .       g.46256
 CTGATGGAAAAGGAACAGAGACTCCTTGTTTTACAAGAAGCTGACTCTATTCGACAACAA       c.3240
 L  M  E  K  E  Q  R  L  L  V  L  Q  E  A  D  S  I  R  Q  Q         p.1080

          .         .         .         .         .         .       g.46316
 GAGCTGAGTGCCCTGCGCCAGGACATGCAGGAGGCCCAGGGAGAACAGAAAGAGCTCAGT       c.3300
 E  L  S  A  L  R  Q  D  M  Q  E  A  Q  G  E  Q  K  E  L  S         p.1100

        | 26 .         .         .         .         .         .    g.47379
 GCTCAG | ATGGAATTACTAAGGCAAGAGGTGAAGGAAAAGGAGGCTGACTTTCTGGCCCAG    c.3360
 A  Q   | M  E  L  L  R  Q  E  V  K  E  K  E  A  D  F  L  A  Q      p.1120

          .         .         .         .         .         .       g.47439
 GAAGCACAGCTGCTGGAGGAGCTGGAGGCGTCTCATATCACGGAGCAGCAGCTGCGAGCC       c.3420
 E  A  Q  L  L  E  E  L  E  A  S  H  I  T  E  Q  Q  L  R  A         p.1140

          .         .         .         .         .         .       g.47499
 TCCTTGTGGGCCCAGGAAGCCAAGGCAGCCCAACTACAGCTGCGACTGCGCAGCACAGAG       c.3480
 S  L  W  A  Q  E  A  K  A  A  Q  L  Q  L  R  L  R  S  T  E         p.1160

          .         .         .         .         .         .       g.47559
 AGCCAGCTAGAAGCGCTGGCCGCAGAGCAGCAGCCCGGGAACCAGGCCCAGGCCCAGGCC       c.3540
 S  Q  L  E  A  L  A  A  E  Q  Q  P  G  N  Q  A  Q  A  Q  A         p.1180

          .         .         .         .         .         .       g.47619
 CAGCTGGCCAGCCTCTACTCTGCCCTGCAGCAGGCCCTGGGGTCTGTTTGTGAGAGCAGG       c.3600
 Q  L  A  S  L  Y  S  A  L  Q  Q  A  L  G  S  V  C  E  S  R         p.1200

          .         .         .         .         .      | 27  .    g.48206
 CCTGAGCTGAGTGGTGGGGGAGACTCTGCTCCTTCCGTCTGGGGCCTTGAGCCAG | ACCAG    c.3660
 P  E  L  S  G  G  G  D  S  A  P  S  V  W  G  L  E  P  D |   Q      p.1220

          .         .         .         .         .         .       g.48266
 AATGGAGCTAGGAGCCTCTTTAAGAGAGGGCCCCTGCTGACTGCTCTCTCCGCTGAGGCA       c.3720
 N  G  A  R  S  L  F  K  R  G  P  L  L  T  A  L  S  A  E  A         p.1240

          .         .         .         .         .        | 28.    g.49658
 GTAGCATCTGCCCTCCACAAGCTTCATCAAGACCTGTGGAAGACTCAACAGACCCGG | GAT    c.3780
 V  A  S  A  L  H  K  L  H  Q  D  L  W  K  T  Q  Q  T  R   | D      p.1260

          .         .         .         .         .         .       g.49718
 GTTCTGAGGGATCAGGTCCAGAAACTGGAAGAGCGTCTAACTGATACTGAGGCTGAGAAG       c.3840
 V  L  R  D  Q  V  Q  K  L  E  E  R  L  T  D  T  E  A  E  K         p.1280

          .         .         .         .         .         | 29    g.51451
 AGCCAGGTCCACACAGAGTTGCAGGATCTGCAGAGACAGCTCTCCCAGAATCAGGAAG | AG    c.3900
 S  Q  V  H  T  E  L  Q  D  L  Q  R  Q  L  S  Q  N  Q  E  E |       p.1300

          .         .         .         .         .         .       g.51511
 AAATCCAAGTGGGAAGGAAAGCAGAACTCCCTAGAATCTGAGCTGATGGAACTACATGAA       c.3960
 K  S  K  W  E  G  K  Q  N  S  L  E  S  E  L  M  E  L  H  E         p.1320

          .         .         .         .         .         .       g.51571
 ACTATGGCATCCTTACAGAGTCGCCTGCGGAGAGCAGAGCTACAGCGAATGGAAGCCCAG       c.4020
 T  M  A  S  L  Q  S  R  L  R  R  A  E  L  Q  R  M  E  A  Q         p.1340

  | 30       .         .         .         .         .         .    g.52055
  | GGTGAGCGAGAGTTACTTCAGGCAGCCAAGGAGAACCTGACAGCCCAGGTGGAACACCTG    c.4080
  | G  E  R  E  L  L  Q  A  A  K  E  N  L  T  A  Q  V  E  H  L      p.1360

          .         .         .         .         .         .       g.52115
 CAAGCAGCTGTCGTAGAAGCCAGGGCTCAGGCAAGTGCTGCTGGCATCCTGGAAGAAGAC       c.4140
 Q  A  A  V  V  E  A  R  A  Q  A  S  A  A  G  I  L  E  E  D         p.1380

          .         .         .         .         .         .       g.52175
 CTGAGAACGGCTCGCTCAGCACTGAAGCTGAAAAATGAGGAAGTAGAGAGTGAGCGTGAG       c.4200
 L  R  T  A  R  S  A  L  K  L  K  N  E  E  V  E  S  E  R  E         p.1400

          .         .         .         .         .         .       g.52235
 AGAGCCCAGGCTCTGCAAGAGCAGGGCGAACTGAAGGTGGCCCAAGGGAAGGCTCTGCAA       c.4260
 R  A  Q  A  L  Q  E  Q  G  E  L  K  V  A  Q  G  K  A  L  Q         p.1420

          .         .         .         .         .         .       g.52295
 GAGAATTTGGCCCTCCTGACCCAGACCCTAGCTGAAAGAGAAGAGGAGGTGGAGACTCTG       c.4320
 E  N  L  A  L  L  T  Q  T  L  A  E  R  E  E  E  V  E  T  L         p.1440

          .         .         .         .         .         .       g.52355
 CGGGGACAAATCCAGGAACTGGAGAAGCAACGGGAAATGCAGAAGGCTGCTTTGGAATTG       c.4380
 R  G  Q  I  Q  E  L  E  K  Q  R  E  M  Q  K  A  A  L  E  L         p.1460

          .         .         .         .         .         .       g.52415
 CTGTCTCTGGACCTGAAGAAGAGGAACCAAGAGGTAGATCTGCAGCAAGAACAGATTCAG       c.4440
 L  S  L  D  L  K  K  R  N  Q  E  V  D  L  Q  Q  E  Q  I  Q         p.1480

          .         .         .         .         .         .       g.52475
 GAGCTAGAGAAGTGTAGGTCTGTTTTAGAGCATCTGCCCATGGCCGTCCAGGAGCGAGAG       c.4500
 E  L  E  K  C  R  S  V  L  E  H  L  P  M  A  V  Q  E  R  E         p.1500

          .         .         .         .         .         .       g.52535
 CAGAAGCTGACTGTGCAGAGGGAGCAGATCAGAGAGCTCGAGAAGGATCGGGAGACTCAG       c.4560
 Q  K  L  T  V  Q  R  E  Q  I  R  E  L  E  K  D  R  E  T  Q         p.1520

          .         .         .         .         .         .       g.52595
 AGGAACGTCTTGGAGCATCAGCTTCTAGAACTTGAGAAGAAAGACCAAATGATTGAGTCC       c.4620
 R  N  V  L  E  H  Q  L  L  E  L  E  K  K  D  Q  M  I  E  S         p.1540

          .         .         .         .         .         .       g.52655
 CAGAGAGGACAGGTTCAGGACCTGAAAAAGCAGTTGGTTACTCTGGAATGCCTGGCCCTG       c.4680
 Q  R  G  Q  V  Q  D  L  K  K  Q  L  V  T  L  E  C  L  A  L         p.1560

          .         .         .         .         .         .       g.52715
 GAACTGGAGGAAAACCATCACAAGATGGAGTGCCAGCAAAAACTGATCAAGGAGCTGGAG       c.4740
 E  L  E  E  N  H  H  K  M  E  C  Q  Q  K  L  I  K  E  L  E         p.1580

          .         .         .         .         .         .       g.52775
 GGCCAGAGGGAAACCCAGAGAGTGGCTTTGACCCACCTTACGCTGGACCTAGAAGAAAGG       c.4800
 G  Q  R  E  T  Q  R  V  A  L  T  H  L  T  L  D  L  E  E  R         p.1600

          .         .         .         .         .         .       g.52835
 AGCCAGGAGCTGCAGGCACAAAGCAGCCAGATCCATGACCTGGAGAGCCACAGCACCGTT       c.4860
 S  Q  E  L  Q  A  Q  S  S  Q  I  H  D  L  E  S  H  S  T  V         p.1620

          .         .         .         .         .         .       g.52895
 CTGGCAAGAGAGCTGCAGGAGAGGGACCAGGAGGTGAAGTCTCAGCGAGAACAGATCGAG       c.4920
 L  A  R  E  L  Q  E  R  D  Q  E  V  K  S  Q  R  E  Q  I  E         p.1640

          .         .         .         .         .         .       g.52955
 GAGCTGCAGAGGCAGAAAGAGCATCTGACTCAGGATCTCGAGAGGAGAGACCAGGAGCTG       c.4980
 E  L  Q  R  Q  K  E  H  L  T  Q  D  L  E  R  R  D  Q  E  L         p.1660

          .         .         .         .         .         .       g.53015
 ATGCTGCAGAAGGAGAGGATTCAGGTTCTCGAGGATCAGAGGACCCGGCAGACCAAGATC       c.5040
 M  L  Q  K  E  R  I  Q  V  L  E  D  Q  R  T  R  Q  T  K  I         p.1680

          .         .         .         .         .         .       g.53075
 CTGGAGGAGGACCTGGAACAGATCAAGCTGTCCTTGAGAGAGCGAGGCCGGGAGCTGACC       c.5100
 L  E  E  D  L  E  Q  I  K  L  S  L  R  E  R  G  R  E  L  T         p.1700

          .         .         .         .         .         .       g.53135
 ACTCAGAGGCAGCTGATGCAGGAACGGGCAGAGGAAGGGAAGGGCCCAAGTAAAGCACAG       c.5160
 T  Q  R  Q  L  M  Q  E  R  A  E  E  G  K  G  P  S  K  A  Q         p.1720

          .         .         .         .         .         .       g.53195
 CGCGGGAGCCTAGAGCACATGAAGCTGATCCTGCGTGATAAGGAGAAGGAGGTGGAATGT       c.5220
 R  G  S  L  E  H  M  K  L  I  L  R  D  K  E  K  E  V  E  C         p.1740

          .         .         .         .         .         .       g.53255
 CAGCAGGAGCATATCCATGAACTCCAGGAGCTCAAAGACCAGCTGGAGCAGCAGCTCCAG       c.5280
 Q  Q  E  H  I  H  E  L  Q  E  L  K  D  Q  L  E  Q  Q  L  Q         p.1760

          .         .         .         .         .         .       g.53315
 GGCCTGCACAGGAAGGTAGGTGAGACCAGCCTCCTCCTGTCCCAGCGAGAGCAGGAAATA       c.5340
 G  L  H  R  K  V  G  E  T  S  L  L  L  S  Q  R  E  Q  E  I         p.1780

          .         .         .         .         .         .       g.53375
 GTGGTCCTGCAGCAGCAACTGCAGGAAGCCAGGGAACAAGGGGAGCTGAAGGAGCAGTCA       c.5400
 V  V  L  Q  Q  Q  L  Q  E  A  R  E  Q  G  E  L  K  E  Q  S         p.1800

          .         .         .         .         .         .       g.53435
 CTTCAGAGTCAACTGGATGAGGCCCAGAGAGCCCTAGCCCAGAGGGACCAGGAACTGGAG       c.5460
 L  Q  S  Q  L  D  E  A  Q  R  A  L  A  Q  R  D  Q  E  L  E         p.1820

          .         .         .         .         .         .       g.53495
 GCTCTGCAGCAAGAACAGCAGCAGGCCCAGGGACAGGAGGAGAGGGTGAAGGAAAAGGCA       c.5520
 A  L  Q  Q  E  Q  Q  Q  A  Q  G  Q  E  E  R  V  K  E  K  A         p.1840

          .         .         .         .         .         .       g.53555
 GACGCCCTCCAGGGAGCTCTGGAGCAAGCCCATATGACACTGAAGGAGCGTCATGGAGAG       c.5580
 D  A  L  Q  G  A  L  E  Q  A  H  M  T  L  K  E  R  H  G  E         p.1860

          .         .         .         .         .         .       g.53615
 CTTCAGGACCACAAGGAACAGGCACGAAGGCTGGAGGAAGAGCTGGCAGTGGAGGGACGG       c.5640
 L  Q  D  H  K  E  Q  A  R  R  L  E  E  E  L  A  V  E  G  R         p.1880

          .         .         .         .         .         .       g.53675
 CGGGTCCAGGCCCTGGAGGAGGTGCTGGGAGACCTAAGGGCTGAGTCTCGGGAACAGGAG       c.5700
 R  V  Q  A  L  E  E  V  L  G  D  L  R  A  E  S  R  E  Q  E         p.1900

          .         .         .         .         .         .       g.53735
 AAAGCTCTGTTGGCCCTCCAGCAGCAGTGTGCTGAGCAGGCACAGGAGCATGAGGTGGAG       c.5760
 K  A  L  L  A  L  Q  Q  Q  C  A  E  Q  A  Q  E  H  E  V  E         p.1920

          .         .         .         .         .         .       g.53795
 ACCAGGGCCCTGCAGGACAGCTGGCTGCAGGCCCAGGCAGTGCTCAAGGAACGGGACCAG       c.5820
 T  R  A  L  Q  D  S  W  L  Q  A  Q  A  V  L  K  E  R  D  Q         p.1940

          .         .         .         .         .         .       g.53855
 GAGCTGGAAGCTCTGCGGGCAGAAAGTCAGTCCTCCCGGCATCAGGAGGAGGCTGCCCGG       c.5880
 E  L  E  A  L  R  A  E  S  Q  S  S  R  H  Q  E  E  A  A  R         p.1960

          .         .         .         .         .         .       g.53915
 GCCCGGGCTGAGGCTCTGCAGGAGGCCCTTGGCAAGGCTCATGCTGCCCTGCAGGGGAAA       c.5940
 A  R  A  E  A  L  Q  E  A  L  G  K  A  H  A  A  L  Q  G  K         p.1980

          .         .         .         .         .         .       g.53975
 GAGCAGCATCTCCTCGAGCAGGCAGAATTGAGCCGCAGTCTGGAGGCCAGCACTGCAACC       c.6000
 E  Q  H  L  L  E  Q  A  E  L  S  R  S  L  E  A  S  T  A  T         p.2000

          .         .         .         .         .         .       g.54035
 CTGCAAGCCTCCCTGGATGCCTGCCAGGCACACAGTCGGCAGCTGGAGGAGGCTCTGAGG       c.6060
 L  Q  A  S  L  D  A  C  Q  A  H  S  R  Q  L  E  E  A  L  R         p.2020

          .         .         .         .         .         .       g.54095
 ATACAAGAAGGTGAGATCCAGGACCAGGATCTCCGATACCAGGAGGATGTGCAGCAGCTG       c.6120
 I  Q  E  G  E  I  Q  D  Q  D  L  R  Y  Q  E  D  V  Q  Q  L         p.2040

          .         .         .         .         .         .       g.54155
 CAGCAGGCACTTGCCCAGAGGGATGAAGAGCTGAGACATCAGCAGGAACGGGAGCAGCTG       c.6180
 Q  Q  A  L  A  Q  R  D  E  E  L  R  H  Q  Q  E  R  E  Q  L         p.2060

          .         .         .         .         .         .       g.54215
 CTGGAGAAGTCTCTGGCCCAGAGGGTCCAAGAGAATATGATCCAAGAGAAGCAGAATCTG       c.6240
 L  E  K  S  L  A  Q  R  V  Q  E  N  M  I  Q  E  K  Q  N  L         p.2080

          .         .         .         .         .         .       g.54275
 GGGCAAGAGAGAGAAGAGGAGGAGATAAGGGGCCTTCATCAGAGTGTAAGGGAGCTACAG       c.6300
 G  Q  E  R  E  E  E  E  I  R  G  L  H  Q  S  V  R  E  L  Q         p.2100

          .         .         .         .         .         .       g.54335
 CTGACTCTAGCCCAAAAGGAACAGGAGATTCTGGAGCTGAGGGAGACCCAGCAAAGGAAC       c.6360
 L  T  L  A  Q  K  E  Q  E  I  L  E  L  R  E  T  Q  Q  R  N         p.2120

          .         .         .         .         .         .       g.54395
 AACCTGGAAGCCTTACCCCACAGCCACAAAACCTCCCCAATGGAGGAACAATCTCTAAAA       c.6420
 N  L  E  A  L  P  H  S  H  K  T  S  P  M  E  E  Q  S  L  K         p.2140

          .         .         .         .         .         .       g.54455
 CTTGATTCTTTAGAGCCCAGGCTGCAGCGGGAGCTGGAGCGGCTACAGGCAGCCCTGAGA       c.6480
 L  D  S  L  E  P  R  L  Q  R  E  L  E  R  L  Q  A  A  L  R         p.2160

          .         .         .         .         .         .       g.54515
 CAGACAGAAGCCAGGGAGATTGAGTGGAGGGAGAAGGCCCAGGACTTGGCACTCTCCCTA       c.6540
 Q  T  E  A  R  E  I  E  W  R  E  K  A  Q  D  L  A  L  S  L         p.2180

          .         .         .         .         .         .       g.54575
 GCGCAGACCAAGGCCAGTGTCAGCAGTCTGCAGGAGGTAGCCATGTTCCTACAAGCCTCT       c.6600
 A  Q  T  K  A  S  V  S  S  L  Q  E  V  A  M  F  L  Q  A  S         p.2200

          .         .         .       | 31 .         .         .    g.57368
 GTCCTGGAGCGGGACTCAGAACAGCAAAGGCTGCAG | GATGAACTGGAGCTCACCAGACGG    c.6660
 V  L  E  R  D  S  E  Q  Q  R  L  Q   | D  E  L  E  L  T  R  R      p.2220

          .         .         .         .         .         .       g.57428
 GCTCTGGAGAAGGAGCGGCTACACAGCCCAGGTGCAACCAGCACAGCAGAACTGGGGTCC       c.6720
 A  L  E  K  E  R  L  H  S  P  G  A  T  S  T  A  E  L  G  S         p.2240

          .         .         . | 32       .         .         .    g.57671
 AGAGGGGAGCAGGGTGTGCAGCTGGGAGAG | GTCTCAGGAGTGGAGGCTGAGCCTAGTCCT    c.6780
 R  G  E  Q  G  V  Q  L  G  E   | V  S  G  V  E  A  E  P  S  P      p.2260

          .         .         .         .         .         .       g.57731
 GATGGAATGGAGAAGCAGTCATGGAGACAAAGGCTTGAACACCTGCAGCAAGCAGTGGCC       c.6840
 D  G  M  E  K  Q  S  W  R  Q  R  L  E  H  L  Q  Q  A  V  A         p.2280

          .         .         .         .         .         .       g.57791
 CGGCTGGAGATTGACAGGAGCAGGCTGCAGCGCCACAATGTCCAGCTGCGGAGTACCTTG       c.6900
 R  L  E  I  D  R  S  R  L  Q  R  H  N  V  Q  L  R  S  T  L         p.2300

        | 33 .         .         .         .         .         .    g.58603
 GAGCAG | GTGGAGCGAGAACGGAGGAAGCTGAAGAGGGAGGCCATGCGTGCGGCCCAGGCA    c.6960
 E  Q   | V  E  R  E  R  R  K  L  K  R  E  A  M  R  A  A  Q  A      p.2320

          .         .         .         .         | 34         .    g.59616
 GGGTCCCTAGAGATCAGCAAGGCCACGGCTTCTTCACCCACACAGCAG | GATGGGAGAGGA    c.7020
 G  S  L  E  I  S  K  A  T  A  S  S  P  T  Q  Q   | D  G  R  G      p.2340

          .         .         .         .      | 35  .         .    g.60984
 CAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAG | GTGGTCCTGCTGCAA    c.7080
 Q  K  N  S  D  A  K  C  V  A  E  L  Q  K  E   | V  V  L  L  Q      p.2360

          .         .         .         .         .         .       g.61044
 GCTCAGCTGACTTTGGAGCGGAAGCAGAAGCAGGACTACATCACCCGCTCAGCACAGACC       c.7140
 A  Q  L  T  L  E  R  K  Q  K  Q  D  Y  I  T  R  S  A  Q  T         p.2380

          .         .         .         .         .         .       g.61104
 AGCCGTGAGCTAGCAGGCCTGCACCACAGCCTCTCACACTCACTTCTTGCCGTGGCCCAG       c.7200
 S  R  E  L  A  G  L  H  H  S  L  S  H  S  L  L  A  V  A  Q         p.2400

          .         .         .         .         .         .       g.61164
 GCCCCTGAGGCCACTGTCCTGGAGGCAGAGACCCGCAGGCTGGATGAGTCCCTGACTCAA       c.7260
 A  P  E  A  T  V  L  E  A  E  T  R  R  L  D  E  S  L  T  Q         p.2420

          .         .         .         .         .         .       g.61224
 AGTCTGACATCCCCAGGGCCAGTCCTGCTACACCCCAGCCCCAGCACTACCCAAGCCGCC       c.7320
 S  L  T  S  P  G  P  V  L  L  H  P  S  P  S  T  T  Q  A  A         p.2440

                                                                    g.61233
 TCCAGGTAG                                                          c.7329
 S  R  X                                                            p.2442

          .         .         .         .         .         .       g.61293
 cagccacagccaggagcacacagacagaagactgtgtcatgggtcatggcccctccgcac       c.*60

          .         .         .         .         .         .       g.61353
 acctacaggtttgccaaaggaaaagcctggctctgttaggcacccaggagccccaggtcg       c.*120

          .         .         .         .         .         .       g.61413
 gcgggtgttcccaggaagaggaagtaaatctgcaaccctggggaggaccccaactcacct       c.*180

          .         .         .         .         .         .       g.61473
 gggaatgaggcaaattgcatttgcttgctccctatggaatcacccagaggggtgccttgc       c.*240

          .         .         .         .         .         .       g.61533
 cctggctgagggacatgtactgcctctcatctagaatttattttcctagcacttcaccac       c.*300

          .         .         .         .                           g.61581
 ctccttcatcttctccttcaacaataaaccctgagatctttgcattca                   c.*348

 (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 Centrosomal protein 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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