phosphatidylinositol glycan anchor biosynthesis, class C (PIGC) - coding DNA reference sequence

(used for variant description)

(last modified March 9, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_153747.1 in the PIGC gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_050631.1, covering PIGC transcript NM_153747.1.

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

 (upstream sequence)
                                                   .                g.5011
                                                  cggacccggaa       c.-301

 .         .         .         .         .         .                g.5071
 gtgcttggccacagtcgcagccccggcgccccgaagcgggaaaaaggctgggtgccgccg       c.-241

 .         .         .         .  | 02      .         .             g.6288
 tcccccagctgcgcaaccctaggaactctcgg | gaacttggctgtgttgtcctgcctcaga    c.-181

 .         .         .         .         .         .                g.6348
 gacaaattcatctattgtaggcctagcccctgcctttgaaaacaaggaaaggttggtaga       c.-121

 .         .         .         .         .         .                g.6408
 acatcaacacagcatggaatttccagggaggtctcatttcaaaacttcataaagaacaag       c.-61

 .         .         .         .         .         .                g.6468
 aaccacctggacttctgtgagggcgatgattaaactggcctgagtttgaatgaaaggata       c.-1

          .         .         .         .         .         .       g.6528
 ATGTATGCTCAACCTGTGACTAACACCAAGGAGGTCAAGTGGCAGAAGGTCTTGTATGAG       c.60
 M  Y  A  Q  P  V  T  N  T  K  E  V  K  W  Q  K  V  L  Y  E         p.20

          .         .         .         .         .         .       g.6588
 CGACAGCCCTTTCCTGATAACTATGTGGACCGGCGATTCCTGGAAGAGCTCCGGAAAAAC       c.120
 R  Q  P  F  P  D  N  Y  V  D  R  R  F  L  E  E  L  R  K  N         p.40

          .         .         .         .         .         .       g.6648
 ATCCATGCTCGGAAATACCAATATTGGGCTGTGGTATTTGAGTCCAGTGTGGTGATCCAG       c.180
 I  H  A  R  K  Y  Q  Y  W  A  V  V  F  E  S  S  V  V  I  Q         p.60

          .         .         .         .         .         .       g.6708
 CAGCTGTGCAGTGTTTGTGTTTTTGTGGTTATCTGGTGGTATATGGATGAGGGTCTTCTG       c.240
 Q  L  C  S  V  C  V  F  V  V  I  W  W  Y  M  D  E  G  L  L         p.80

          .         .         .         .         .         .       g.6768
 GCCCCCCATTGGCTTTTAGGGACTGGTCTGGCTTCTTCACTGATTGGGTATGTTTTGTTT       c.300
 A  P  H  W  L  L  G  T  G  L  A  S  S  L  I  G  Y  V  L  F         p.100

          .         .         .         .         .         .       g.6828
 GATCTCATTGATGGAGGTGAAGGGCGGAAGAAGAGTGGGCAGACCCGGTGGGCTGACCTG       c.360
 D  L  I  D  G  G  E  G  R  K  K  S  G  Q  T  R  W  A  D  L         p.120

          .         .         .         .         .         .       g.6888
 AAGAGTGCCCTAGTCTTCATTACTTTCACTTATGGGTTTTCACCAGTGCTGAAGACCCTT       c.420
 K  S  A  L  V  F  I  T  F  T  Y  G  F  S  P  V  L  K  T  L         p.140

          .         .         .         .         .         .       g.6948
 ACAGAGTCTGTCAGCACTGACACCATCTATGCCATGTCAGTCTTCATGCTGTTAGGCCAT       c.480
 T  E  S  V  S  T  D  T  I  Y  A  M  S  V  F  M  L  L  G  H         p.160

          .         .         .         .         .         .       g.7008
 CTCATCTTTTTTGACTATGGTGCCAATGCTGCCATTGTATCCAGCACACTATCCTTGAAC       c.540
 L  I  F  F  D  Y  G  A  N  A  A  I  V  S  S  T  L  S  L  N         p.180

          .         .         .         .         .         .       g.7068
 ATGGCCATCTTTGCTTCTGTATGCTTGGCATCACGTCTTCCCCGGTCCCTGCATGCCTTC       c.600
 M  A  I  F  A  S  V  C  L  A  S  R  L  P  R  S  L  H  A  F         p.200

          .         .         .         .         .         .       g.7128
 ATCATGGTGACATTTGCCATTCAGATTTTTGCCCTGTGGCCCATGTTGCAGAAGAAACTA       c.660
 I  M  V  T  F  A  I  Q  I  F  A  L  W  P  M  L  Q  K  K  L         p.220

          .         .         .         .         .         .       g.7188
 AAGGCATGTACTCCCCGGAGCTATGTGGGGGTCACACTGCTTTTTGCATTTTCAGCCGTG       c.720
 K  A  C  T  P  R  S  Y  V  G  V  T  L  L  F  A  F  S  A  V         p.240

          .         .         .         .         .         .       g.7248
 GGAGGCCTACTGTCCATTAGTGCTGTGGGAGCCGTACTCTTTGCCCTTCTGCTGATGTCT       c.780
 G  G  L  L  S  I  S  A  V  G  A  V  L  F  A  L  L  L  M  S         p.260

          .         .         .         .         .         .       g.7308
 ATCTCATGTCTGTGTCCATTCTACCTCATTCGCTTGCAGCTTTTTAAAGAAAACATTCAT       c.840
 I  S  C  L  C  P  F  Y  L  I  R  L  Q  L  F  K  E  N  I  H         p.280

          .         .         .         .         .                 g.7362
 GGGCCTTGGGATGAAGCTGAAATCAAGGAAGACTTGTCCAGGTTCCTCAGTTAA             c.894
 G  P  W  D  E  A  E  I  K  E  D  L  S  R  F  L  S  X               p.297

          .         .         .         .         .         .       g.7422
 attaggacatccattacattattaaagcaagctgatagattagcctcctaactagtatag       c.*60

          .         .         .         .         .         .       g.7482
 aacttaaagacagagttccattctggaagcagcatgtcattgtggtaagagaatagagat       c.*120

          .         .         .         .         .         .       g.7542
 caaaaccaaaaaaaatgaaccaaaggcttgggtggtgagggtgcttatcctttctgttat       c.*180

          .         .         .         .         .         .       g.7602
 tttgtagatgaaaaaactttctggggacctcttgaattacatgctgtaacatatgaagtg       c.*240

          .         .         .                                     g.7634
 atgtggtttctattaaaaaaataacacatcca                                   c.*272

 (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 C 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.