SUPT20H like 1 (SUPT20HL1) - coding DNA reference sequence

(used for variant description)

(last modified June 26, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_001136234.1 in the SUPT20HL1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering SUPT20HL1 transcript NM_001136234.1.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGATCGAGATTTAGAACAGGCTCTGGATCGCGCAGAGAATATCATTGAAATTGCCCAA       c.60
 M  D  R  D  L  E  Q  A  L  D  R  A  E  N  I  I  E  I  A  Q         p.20

          .         .         .         .         .         .       g.120
 CAGAGACCTCCTAGAAGGAGATACTCACCTAGGGCGGGAAAAACTCTGCAGGAAAAACTT       c.120
 Q  R  P  P  R  R  R  Y  S  P  R  A  G  K  T  L  Q  E  K  L         p.40

          .         .         .         .         .         .       g.180
 TATGACATTTATGTTGAAGAATGTGGAAAAGAGCCTGAGGATCCTCAGGAATTGAGAAGC       c.180
 Y  D  I  Y  V  E  E  C  G  K  E  P  E  D  P  Q  E  L  R  S         p.60

          .         .         .         .         .         .       g.240
 AATGTAAACTTGTTAGAAAAGCTTGTTAGGAGAGAGTCCTTGCCATGTTTACTGGTCAAT       c.240
 N  V  N  L  L  E  K  L  V  R  R  E  S  L  P  C  L  L  V  N         p.80

          .         .         .         .         .         .       g.300
 CTATACCCAGGCAATCAGGGGTATTCTGTGATGCTCCAGAGAGAAGATGGGTCCTTTGCA       c.300
 L  Y  P  G  N  Q  G  Y  S  V  M  L  Q  R  E  D  G  S  F  A         p.100

          .         .         .         .         .         .       g.360
 GAGACCATTCGGCTGCCTTATGAAGAAAGGGCATTGCTGGACTACTTGGATGCAGAAGAA       c.360
 E  T  I  R  L  P  Y  E  E  R  A  L  L  D  Y  L  D  A  E  E         p.120

          .         .         .         .         .         .       g.420
 TTACCCCCTGCTTTGGGTGATGTCCTGGATAAAGCTTCGGTTAACATTTTTCATAGTGGG       c.420
 L  P  P  A  L  G  D  V  L  D  K  A  S  V  N  I  F  H  S  G         p.140

          .         .         .         .         .         .       g.480
 TGTGTCATAGTAGAAGTTCGTGACTACAGGCAGTCCAGTAATATGCAACCTCCTGGTTAC       c.480
 C  V  I  V  E  V  R  D  Y  R  Q  S  S  N  M  Q  P  P  G  Y         p.160

          .         .         .         .         .         .       g.540
 CAAAGCAGGCATATTCTTCTACGTCCAACGATGCAGACTTTAGCCCATGATGTGAAGATG       c.540
 Q  S  R  H  I  L  L  R  P  T  M  Q  T  L  A  H  D  V  K  M         p.180

          .         .         .         .         .         .       g.600
 ATGACAAGAGATGGCCAGAAATGGAGCCAGGAAGACAAGCTTCAGCTTGAGAGCCAGCTG       c.600
 M  T  R  D  G  Q  K  W  S  Q  E  D  K  L  Q  L  E  S  Q  L         p.200

          .         .         .         .         .         .       g.660
 ATCTTAGCGACAGCTGAACCACTGTGTCTTGATCCTTCTGTAGCAGTTGCCTGCACTGCA       c.660
 I  L  A  T  A  E  P  L  C  L  D  P  S  V  A  V  A  C  T  A         p.220

          .         .         .         .         .         .       g.720
 AACAGGCTGCTGTACAACAAGCAAAAGATGAATACCGACCCGATGAAACGGTGCCTCCAG       c.720
 N  R  L  L  Y  N  K  Q  K  M  N  T  D  P  M  K  R  C  L  Q         p.240

          .         .         .         .         .         .       g.780
 AGGTATTCGTGGCCCTCTGTAAAGCCACAGCAGGAGCAGTCTGACTGTCCACCTCCTCCT       c.780
 R  Y  S  W  P  S  V  K  P  Q  Q  E  Q  S  D  C  P  P  P  P         p.260

          .         .         .         .         .         .       g.840
 GAGCTGAGAGTGTCGACTTCTGGCCAAAAAGAAGAAAGAAAAGTAGGTCAGCCTTGTGAG       c.840
 E  L  R  V  S  T  S  G  Q  K  E  E  R  K  V  G  Q  P  C  E         p.280

          .         .         .         .         .         .       g.900
 CTGAACATTGCTAAAGCAGGAAGTTGTGTAGACACGTGGAAAGGCAGACCCTGTGATTTG       c.900
 L  N  I  A  K  A  G  S  C  V  D  T  W  K  G  R  P  C  D  L         p.300

          .         .         .         .         .         .       g.960
 GCCGTGCCTTCAGAAGTGGATGTGGAGAAACTTGCTAAAGGGTATCAGTCCGTCACAGCT       c.960
 A  V  P  S  E  V  D  V  E  K  L  A  K  G  Y  Q  S  V  T  A         p.320

          .         .         .         .         .         .       g.1020
 GCTGACCCACAGCTCCCAGTCTGGCCAGCCCAGGAGGTAGAAGACCCTTTTGGATTTGCG       c.1020
 A  D  P  Q  L  P  V  W  P  A  Q  E  V  E  D  P  F  G  F  A         p.340

          .         .         .         .         .         .       g.1080
 TTGGAAGCTGGCTGTCAGGCCTGGGACACCAAGCCAAGCATCATGCAGTCGTTTAATGAT       c.1080
 L  E  A  G  C  Q  A  W  D  T  K  P  S  I  M  Q  S  F  N  D         p.360

          .         .         .         .         .         .       g.1140
 CCGCTTCTCTGTGGTAAAATACGGCCACGTAAAAAAGCCAGGCAGAAGAGCCAGAAGTCT       c.1140
 P  L  L  C  G  K  I  R  P  R  K  K  A  R  Q  K  S  Q  K  S         p.380

          .         .         .         .         .         .       g.1200
 CCCTGGCAGCCCTTCCCAGATGACCATTCAGCTTGTCTCAGGCCTGGGTCAGAGACTGAT       c.1200
 P  W  Q  P  F  P  D  D  H  S  A  C  L  R  P  G  S  E  T  D         p.400

          .         .         .         .         .         .       g.1260
 GCTGGGAGGGCAGTGAGTCAGGCCCAGGAATCGGTGCAGAGCAAAGTCAAAGGTCCAGGC       c.1260
 A  G  R  A  V  S  Q  A  Q  E  S  V  Q  S  K  V  K  G  P  G         p.420

          .         .         .         .         .         .       g.1320
 AAGATGTCACACAGCTCCAGTGGCCCAGCCAGTGTCAGTCAGCTCTCTTCATGGAAAACA       c.1320
 K  M  S  H  S  S  S  G  P  A  S  V  S  Q  L  S  S  W  K  T         p.440

          .         .         .         .         .         .       g.1380
 CCAGAACAGCCTGATCCTGTGTGGGTCCAGTCTTCAGTATCGGGGAAGGGAGAGAAACAT       c.1380
 P  E  Q  P  D  P  V  W  V  Q  S  S  V  S  G  K  G  E  K  H         p.460

          .         .         .         .         .         .       g.1440
 CCACCTCCCCGCACCCAACTTCCCTCAAGCTCAGGAAAGATTTCCTCAGGTAACAGTTTT       c.1440
 P  P  P  R  T  Q  L  P  S  S  S  G  K  I  S  S  G  N  S  F         p.480

          .         .         .         .         .         .       g.1500
 CCCCCACAACAGGCAGGCAGCCCTCTTAAGCGTCCATTTTCTGCTGCTGCTGCTATTGCT       c.1500
 P  P  Q  Q  A  G  S  P  L  K  R  P  F  S  A  A  A  A  I  A         p.500

          .         .         .         .         .         .       g.1560
 GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTCCT       c.1560
 A  A  A  A  A  A  A  A  A  A  A  A  A  A  A  A  A  P  A  P         p.520

          .         .         .         .         .         .       g.1620
 GCTCTAGCTGCTGCTGCTGCTCCTGCTCTAGCTGCTGCTGCTGCTCCTGCTCTAGCTGCT       c.1620
 A  L  A  A  A  A  A  P  A  L  A  A  A  A  A  P  A  L  A  A         p.540

          .         .         .         .         .         .       g.1680
 GCTGCTGCTCCTGCTCCTGCTCCTGCCGCTGCTCCTGCTGTAGCTGCTGCTCCTGCTGCT       c.1680
 A  A  A  P  A  P  A  P  A  A  A  P  A  V  A  A  A  P  A  A         p.560

          .         .         .         .         .         .       g.1740
 GCTGCTTCTGCGGCACCAAGTCATTCTCAGAAGCCCTCTGTGCCTCTCATTCAAGCTAGC       c.1740
 A  A  S  A  A  P  S  H  S  Q  K  P  S  V  P  L  I  Q  A  S         p.580

          .         .         .         .         .         .       g.1800
 AGGCCCTGTCCAGCTGCCCAGCCCCCCACCAAATTCATAAAAATAGCGCCAGCCATTCAG       c.1800
 R  P  C  P  A  A  Q  P  P  T  K  F  I  K  I  A  P  A  I  Q         p.600

          .         .         .         .         .         .       g.1860
 TTGAGGACAGGCTCCACTGGCCTAAAGGCCATCAATGTGGAGGGCCCAGTCCAGGGAGCC       c.1860
 L  R  T  G  S  T  G  L  K  A  I  N  V  E  G  P  V  Q  G  A         p.620

          .         .         .         .         .         .       g.1920
 CAGGCTTTGGGGAGCAGTTTCAAGCCTGTGCAGGCCCCTGGCTCGGGTGCCCCCGCTCCT       c.1920
 Q  A  L  G  S  S  F  K  P  V  Q  A  P  G  S  G  A  P  A  P         p.640

          .         .         .         .         .         .       g.1980
 GCAGGAATCAGTGGCAGTGACCTTCAGTCCTCAGGAGGTCCACTACCAGATGCAAGGCCC       c.1980
 A  G  I  S  G  S  D  L  Q  S  S  G  G  P  L  P  D  A  R  P         p.660

          .         .         .         .         .         .       g.2040
 GGTGCAGTGCAGGCATCTTCTCCAGCACCCCTTCAGTTTTTCCTAAATACTCCGGAAGGT       c.2040
 G  A  V  Q  A  S  S  P  A  P  L  Q  F  F  L  N  T  P  E  G         p.680

          .         .         .         .         .         .       g.2100
 CTCAGGCCTCTGACACTCCTCCAGGTTCCGCAGGGCTCGGCGGTTCTGACCGGCCCGCAG       c.2100
 L  R  P  L  T  L  L  Q  V  P  Q  G  S  A  V  L  T  G  P  Q         p.700

          .         .         .         .         .         .       g.2160
 CAGCAGTCCCATCAGCTGGTTTCCCTGCAGCAGCTCCAGCAGCCCACAGCTGCTCATCCT       c.2160
 Q  Q  S  H  Q  L  V  S  L  Q  Q  L  Q  Q  P  T  A  A  H  P         p.720

          .         .         .         .         .         .       g.2220
 CCTCAGCCAGGGCCACAGGGTTCCGCACTAGGTTTGAGCACGCAAGGGCAGGCCTTCCCT       c.2220
 P  Q  P  G  P  Q  G  S  A  L  G  L  S  T  Q  G  Q  A  F  P         p.740

          .         .         .         .         .         .       g.2280
 GCTCAGCAACTTCTTAAGGTGAACCCCACTAGAGCCAGAAGTGGTCTGCAGCCCCAGCCC       c.2280
 A  Q  Q  L  L  K  V  N  P  T  R  A  R  S  G  L  Q  P  Q  P         p.760

          .         .         .         .         .         .       g.2340
 CAGCCTGCTGTGTTGAGTCTGCTTGGCTCTGCCCAGGTTCCTCAGCAGGGTGTCCAGCTC       c.2340
 Q  P  A  V  L  S  L  L  G  S  A  Q  V  P  Q  Q  G  V  Q  L         p.780

          .         .         .         .         .         .       g.2400
 CCCTCTGTCTTGAGGCAGCAGCAGCCACAGCCACAGCCGCCGAAGCTGCAACTGCAACCG       c.2400
 P  S  V  L  R  Q  Q  Q  P  Q  P  Q  P  P  K  L  Q  L  Q  P         p.800

          .         .         .         .         .         .       g.2460
 CAGTGGCAGCCAAAGCCACGGCAGGAGCAGCCACAGTCGCAGCAGCAGCAGCCGCAGCAT       c.2460
 Q  W  Q  P  K  P  R  Q  E  Q  P  Q  S  Q  Q  Q  Q  P  Q  H         p.820

          .         .         .         .         .         .       g.2520
 ATCCAGCTCCAGACTCAGCAGTTGAGAGTCTTGCAGCAGCCGCAGCATATCCAGCTCCAG       c.2520
 I  Q  L  Q  T  Q  Q  L  R  V  L  Q  Q  P  Q  H  I  Q  L  Q         p.840

          .         .         .         .         .         .       g.2580
 ACTCAGCAGTTGAGAGTCCTGCAGCAGCCAGTGTTTTTGGCAACAGGCGCTGTTCAGATA       c.2580
 T  Q  Q  L  R  V  L  Q  Q  P  V  F  L  A  T  G  A  V  Q  I         p.860

          .         .         .         .         .         .       g.2640
 GTGCAGCCACATCCAGGTGTGCAAGTAGGGAGCCAGTTGGTAGATCAGAGGAAGGAAGGC       c.2640
 V  Q  P  H  P  G  V  Q  V  G  S  Q  L  V  D  Q  R  K  E  G         p.880

          .         .                                               g.2664
 AAGCCAACCCCTCCAGCGCCCTGA                                           c.2664
 K  P  T  P  P  A  P  X                                             p.887

 

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The SUPT20H like 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.