phosphatidylinositol glycan anchor biosynthesis, class K (PIGK) - coding DNA reference sequence

(used for variant description)

(last modified April 4, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_005482.2 in the PIGK gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering PIGK transcript NM_005482.2.

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

 (upstream sequence)
                     .         .         .         .                g.5045
                actgcctccgccccttcaggtgcgggaagtctgaagccggtaaac       c.-1

          .         .         .         .         .         .       g.5105
 ATGGCCGTCACCGACAGCCTCAGCCGGGCTGCGACTGTCTTGGCAACTGTGTTGCTCTTG       c.60
 M  A  V  T  D  S  L  S  R  A  A  T  V  L  A  T  V  L  L  L         p.20

          .         .         .    | 02    .         .         .    g.13985
 TCCTTCGGCAGCGTGGCCGCTAGTCATATCGAG | GATCAAGCAGAACAATTCTTTAGAAGT    c.120
 S  F  G  S  V  A  A  S  H  I  E   | D  Q  A  E  Q  F  F  R  S      p.40

          .         .        | 03.         .         .         .    g.17749
 GGCCATACAAACAACTGGGCTGTTCTG | GTGTGTACATCCCGATTCTGGTTTAATTATCGA    c.180
 G  H  T  N  N  W  A  V  L   | V  C  T  S  R  F  W  F  N  Y  R      p.60

          .         .         .         .         .          | 04    g.55053
 CATGTTGCAAATACCCTTTCTGTTTATAGAAGTGTCAAGAGGCTAGGTATTCCTGACAG | T    c.240
 H  V  A  N  T  L  S  V  Y  R  S  V  K  R  L  G  I  P  D  S  |      p.80

          .         .         .         .         .         .       g.55113
 CACATTGTCCTAATGCTTGCAGATGATATGGCCTGTAATCCTAGAAATCCCAAACCAGCT       c.300
 H  I  V  L  M  L  A  D  D  M  A  C  N  P  R  N  P  K  P  A         p.100

          .         .         .         .         .         .       g.55173
 ACAGTGTTTAGTCACAAGAATATGGAACTAAATGTGTATGGAGATGATGTGGAAGTGGAT       c.360
 T  V  F  S  H  K  N  M  E  L  N  V  Y  G  D  D  V  E  V  D         p.120

          .      | 05  .         .         .         .         .    g.57662
 TATAGAAGTTACGAG | GTAACTGTGGAGAATTTTTTACGGGTATTAACTGGGAGGATCCCA    c.420
 Y  R  S  Y  E   | V  T  V  E  N  F  L  R  V  L  T  G  R  I  P      p.140

          .         .         .         .         .         .       g.57722
 CCTAGTACTCCTCGGTCAAAACGTCTTCTTTCTGATGACAGAAGCAATATTCTAATTTAT       c.480
 P  S  T  P  R  S  K  R  L  L  S  D  D  R  S  N  I  L  I  Y         p.160

         | 06.         .         .         .         .         .    g.60558
 ATGACAG | GGCATGGTGGAAATGGTTTCTTAAAATTTCAAGATTCTGAAGAAATTACCAAC    c.540
 M  T  G |   H  G  G  N  G  F  L  K  F  Q  D  S  E  E  I  T  N      p.180

          .         .         .         .     | 07   .         .    g.62752
 ATAGAACTCGCGGATGCTTTTGAACAAATGTGGCAGAAAAGACG | CTACAATGAGCTACTG    c.600
 I  E  L  A  D  A  F  E  Q  M  W  Q  K  R  R  |  Y  N  E  L  L      p.200

          .         .         .         .         .         .       g.62812
 TTTATTATTGATACTTGCCAAGGAGCATCCATGTATGAACGATTTTATTCTCCTAACATA       c.660
 F  I  I  D  T  C  Q  G  A  S  M  Y  E  R  F  Y  S  P  N  I         p.220

          .         .         .         .   | 08     .         .    g.63060
 ATGGCTCTAGCTAGTAGTCAAGTGGGAGAAGATTCACTCTCG | CATCAACCTGATCCTGCA    c.720
 M  A  L  A  S  S  Q  V  G  E  D  S  L  S   | H  Q  P  D  P  A      p.240

          .         .         .         .         .         .       g.63120
 ATTGGAGTCCATCTTATGGATAGATACACATTTTATGTCTTGGAATTTTTGGAAGAAATT       c.780
 I  G  V  H  L  M  D  R  Y  T  F  Y  V  L  E  F  L  E  E  I         p.260

          .         .         .    | 09    .         .         .    g.69853
 AACCCAGCTAGCCAAACTAATATGAATGACCTT | TTTCAGGTATGTCCCAAAAGTCTGTGT    c.840
 N  P  A  S  Q  T  N  M  N  D  L   | F  Q  V  C  P  K  S  L  C      p.280

          .         .         .         .         .         .       g.69913
 GTGTCTACTCCTGGACATCGCACTGATCTTTTTCAGAGGGATCCTAAAAATGTACTGATA       c.900
 V  S  T  P  G  H  R  T  D  L  F  Q  R  D  P  K  N  V  L  I         p.300

          .         .         .         .         .         .       g.69973
 ACTGATTTCTTTGGAAGTGTACGGAAAGTGGAAATTACAACAGAGACTATTAAATTGCAA       c.960
 T  D  F  F  G  S  V  R  K  V  E  I  T  T  E  T  I  K  L  Q         p.320

          .         .       | 10 .         .         .         .    g.102122
 CAGGATTCAGAAATCATGGAAAGCAG | CTATAAGGAAGACCAGATGGATGAGAAACTAATG    c.1020
 Q  D  S  E  I  M  E  S  S  |  Y  K  E  D  Q  M  D  E  K  L  M      p.340

          .         .         .         .         .  | 11      .    g.131966
 GAACCTCTGAAATATGCTGAACAACTTCCTGTAGCTCAGATAATACACCAG | AAACCGAAG    c.1080
 E  P  L  K  Y  A  E  Q  L  P  V  A  Q  I  I  H  Q   | K  P  K      p.360

          .         .         .         .         .         .       g.132026
 CTGAAAGACTGGCATCCTCCTGGGGGCTTTATTCTGGGATTATGGGCACTTATTATCATG       c.1140
 L  K  D  W  H  P  P  G  G  F  I  L  G  L  W  A  L  I  I  M         p.380

          .         .         .         .                           g.132074
 GTTTTCTTCAAAACTTATGGAATTAAGCATATGAAGTTCATTTTTTAG                   c.1188
 V  F  F  K  T  Y  G  I  K  H  M  K  F  I  F  X                     p.395

          .         .         .         .         .         .       g.132134
 acttgatgatgaatgaagaatgcatggaggactgcaaacttggataataatttatgtcat       c.*60

          .         .         .         .         .         .       g.132194
 tatatatttttaaaaatgtgtttctcttgtatgaattggaaataagtataaggaaactaa       c.*120

          .         .         .         .         .         .       g.132254
 atttgaatcaactattaattttataacttaaagaaaaataattgttaatgcaactgctta       c.*180

          .         .         .         .         .         .       g.132314
 atggcactaaatatattccagttttgtattttgtgtattataaaagcgaatgagacagag       c.*240

          .         .         .         .         .         .       g.132374
 atcagaatacattgactgtttttgaaaatagtaatttccccttatccccttttcatttgg       c.*300

          .         .         .         .         .         .       g.132434
 aaaagaaacaattgtgaagacattaaattctcactaacagaagtaactttggttaattat       c.*360

          .         .         .         .         .         .       g.132494
 tttttgtatatcctcccaatcttttgacttatgcacatattttttcccaatatggagatc       c.*420

          .         .         .         .         .         .       g.132554
 atatggaatgtactattttgtaatgtcttttttcattttacaatgtattatcaacctttt       c.*480

          .         .         .         .         .         .       g.132614
 ccctctcaaaaatacattgtgaatgactgcatagtattcactttatgaatatttaattca       c.*540

          .         .         .         .         .         .       g.132674
 tttcacagtcttctattgttggaccacttacattgtaccaaatgttttcctttggtttat       c.*600

          .         .         .         .         .         .       g.132734
 tctttaatgtattaatattttactgctggtcactcatggaatcctgcagctttaattaaa       c.*660

          .         .         .         .         .         .       g.132794
 agcaaagatgaaaaattggttttttaatctatggcactgacaatctccaggaccttatat       c.*720

          .         .         .         .         .         .       g.132854
 gtttgttgtcagtttatttgggaaattttagacctttgataatttcacgtactgactgct       c.*780

          .         .         .         .         .         .       g.132914
 caagagaaacataccccattgtttttcatttgtaagcgttctgtgatcttctacaattgg       c.*840

          .         .         .         .         .         .       g.132974
 tcacgtcctcttcattttccatcttgaaagagagagccaacaaggactttatttcattct       c.*900

          .         .         .         .         .         .       g.133034
 gttttaggtaaacctccttgcccactggctgtatctatactttccttgagaaaaatccca       c.*960

          .         .         .         .         .         .       g.133094
 taaagtggatggacctgtgaagaaaatgtatgcttatggcctagccttcatgtctggctg       c.*1020

          .         .         .         .         .         .       g.133154
 atgtatcctataaggcagtaagccccttttctagtctctggtaagatgcaagagctcata       c.*1080

          .         .         .         .         .         .       g.133214
 tccccatcactgacattttagtttggaaataatattgagactgtgctatgaccaacccct       c.*1140

          .         .         .         .         .         .       g.133274
 gatgttgttttttcttttcaaacttttgcatatgagtagaggaaaagcctaaaagttaag       c.*1200

          .         .         .         .         .         .       g.133334
 tatttatgtctggggggataccttcaggtgtcttatctgttttatgcaagaatttatgtg       c.*1260

          .         .         .         .         .         .       g.133394
 ttcatctttattcagtgcaaagatttttttttaaattttgtttataattgtaggtaacat       c.*1320

          .         .         .         .         .         .       g.133454
 taagacaactcttcctccacaagaaaacctcctaaaattaatattccttaagatttgttt       c.*1380

          .         .         .         .         .         .       g.133514
 ttccttttgcacttataatattaccttttaattgcatgcaagattgtcatacttttcaaa       c.*1440

          .         .         .         .         .         .       g.133574
 aggcaaaggattgactgtgttatctccctagttagaacaaatgatattgaggctttttgc       c.*1500

          .         .         .         .         .         .       g.133634
 cagctctgaatctttattttaattgatctttttattgatgtgttatataaatgaggaaga       c.*1560

          .         .         .         .         .         .       g.133694
 aaaattttgtctgattatgtgaaggatctttctgtacatgaaaagaagggaaaataaact       c.*1620

          .         .         .         .         .         .       g.133754
 tgcaattgaatagactgattatagtagcactgagacacaaaaagattgaccatgttgccc       c.*1680

          .         .         .         .         .         .       g.133814
 tccagacactcatacaaggtcgtggacaccacggtgaggcggagctatttagggtggtaa       c.*1740

          .         .         .         .         .         .       g.133874
 aggaattatgattgttcttgagccaaagtaatttagtttgaatataatgaaacataccct       c.*1800

          .         .         .         .         .         .       g.133934
 gtaaagactgctagaaagtaaaaggattcgtcttcagaggttgtagaaggtgcccttctt       c.*1860

          .         .         .         .         .         .       g.133994
 agttaaaaccaaactgggaaaagtaatactggataaaatattcaggataaattttgcctc       c.*1920

          .         .         .         .         .         .       g.134054
 agcagaatttcaaagggcagttgttcctctgtttcattattgaatcttcagaatatagtt       c.*1980

          .         .         .         .         .         .       g.134114
 aaagccaaaagcttaaaatatgttaaatgtttcacttataaccataatctttttacatag       c.*2040

          .         .         .         .         .         .       g.134174
 agcatactctgccttcataataactaaatcctctgcatgtggtagatgagtacgtttagg       c.*2100

          .         .         .         .         .         .       g.134234
 aaatattgtcagtgcaattaaatggcctacactttaaacagtatcataaaaacaaatcct       c.*2160

          .         .         .         .         .         .       g.134294
 taaatatattctacttgagtcacaaaagctgaacaacagaaaggtgttttgtttttgcct       c.*2220

          .         .         .         .         .         .       g.134354
 ttctcacagtgttgtggtgagaatcagatgagatagtattttgactaaacacttctgaaa       c.*2280

          .         .         .         .         .         .       g.134414
 ttgtaaatatatggtggcattattgttcttatgtcggcttaggaggataccaaaggggaa       c.*2340

          .         .         .         .         .         .       g.134474
 gttaatggtcacagtgcacttatgtagctttctaagctactcaatgtgattcttgttctc       c.*2400

          .         .         .         .         .         .       g.134534
 tttgctgttctttttctcctcccccatggtgtccttcagagagaaaaggaatgtagataa       c.*2460

          .         .         .         .         .         .       g.134594
 atgaatccctgcagatgtgtcctgacatttcagggagggacagggtataatgatgccatc       c.*2520

          .         .         .         .         .         .       g.134654
 ctgcaaaggcagcctgtgtgagaaaaagaaatcaaataatgtggattttaaaattacgaa       c.*2580

          .         .         .         .         .         .       g.134714
 agacattcatttgcagtttatgaaaggaaaatgtagtttggatacaaagctgattaaatt       c.*2640

          .         .         .         .         .         .       g.134774
 ggatcaagaaatattagaattaaatgcaaaaaataatccatgcatttatggttttgattt       c.*2700

          .         .         .         .         .         .       g.134834
 ttatatattcccagctagttgaaaatgatgattcccacaagaagcataactcagcttgtt       c.*2760

          .         .         .         .         .         .       g.134894
 tctgcttactgagtattttctactatggtatatattgataacatttcttccattatgtat       c.*2820

          .         .         .         .         .         .       g.134954
 gttgtataccagagttacagttactgtgggaatcataatttgaaattttgactcctgtgt       c.*2880

          .         .         .         .         .         .       g.135014
 ttctggaatctttacaacaaatgttgcattaacatataacttttttcagttgactttacc       c.*2940

          .         .         .         .         .         .       g.135074
 aaaattaagcccatctttagtagatactgttttaacatgtgaaagaaatacgttataaac       c.*3000

          .         .         .         .         .         .       g.135134
 ataccacaagatatggctataaaacaatgagatcagtatccatttttgctttaaagaatt       c.*3060

          .         .         .         .         .         .       g.135194
 ggccttattgcttcagtgtcacatctcatactcaagggcatttactacaaagaaagagtt       c.*3120

          .         .         .         .         .         .       g.135254
 ctccaatattgctgttctgttgctgcctgccctatttacacatgtacctgctacttaaat       c.*3180

          .         .         .         .         .         .       g.135314
 aggaaagcctttcaattcatggacaatacaccttggtggtaaccaggcttttatttttat       c.*3240

          .         .         .         .         .         .       g.135374
 ttttttttcttagtgtaaaaactgtactgttttggaaatgtgctgtgaaatattaggttt       c.*3300

          .         .         .         .         .         .       g.135434
 aactgtgtagatcctagaataaggggatttatatagatgaagttgtaaccaagaaactgg       c.*3360

          .         .         .                                     g.135467
 ttattaaaaatttatttactccaaacatggaaa                                  c.*3393

 (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 Phosphatidylinositol glycan anchor biosynthesis, class K 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.