GIPC PDZ domain containing family, member 1 (GIPC1) - coding DNA reference sequence

(used for variant description)

(last modified May 14, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_005716.3 in the GIPC1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering GIPC1 transcript NM_005716.3.

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

 (upstream sequence)
                     .         .         .         .                g.5047
              ggcgccgctgcgggagaggcccggtctggagtttgcggagggccgag       c.-241

 .         .         .         .         .         .                g.5107
 ccgggtgcgcacggggaggcggaggcagcggcggcggcggcggcggcggcggcggcggcg       c.-181

 .      | 02  .         .         .         .         .             g.8291
 gagcag | atgaagaaactgaggccctgtgatgtgaagtgacttgccccccagccacacagc    c.-121

 .  | 03      .         .         .         .         .             g.9464
 tg | gaccattctggctgctgtctggacaagaagtcgtagggggtgagggtggaagctggga    c.-61

 .         .         .          | 04        .         .             g.18173
 aacccacaggaggcaaccacactagtttag | atcttctggtgaccccacttctcgctgctc    c.-1

          .         .         .         .         .         .       g.18233
 ATGCCGCTGGGACTGGGGCGGCGGAAAAAGGCGCCCCCTCTAGTGGAAAATGAGGAGGCT       c.60
 M  P  L  G  L  G  R  R  K  K  A  P  P  L  V  E  N  E  E  A         p.20

          .         .         .         .         .         .       g.18293
 GAGCCAGGCCGTGGAGGGCTGGGCGTGGGGGAGCCAGGGCCTCTGGGCGGAGGTGGGTCG       c.120
 E  P  G  R  G  G  L  G  V  G  E  P  G  P  L  G  G  G  G  S         p.40

          .         .         .         .         .         .       g.18353
 GGGGGCCCCCAAATGGGCTTGCCCCCCCCTCCCCCAGCCCTGCGGCCCCGCCTCGTGTTC       c.180
 G  G  P  Q  M  G  L  P  P  P  P  P  A  L  R  P  R  L  V  F         p.60

          .         .         .         .         .         .       g.18413
 CACACCCAGCTGGCCCATGGCAGTCCCACTGGCCGCATCGAGGGCTTCACCAACGTCAAG       c.240
 H  T  Q  L  A  H  G  S  P  T  G  R  I  E  G  F  T  N  V  K         p.80

          .         .         .         .         | 05         .    g.20383
 GAGCTGTATGGCAAGATCGCCGAGGCCTTCCGCCTGCCAACTGCCGAG | GTGATGTTCTGC    c.300
 E  L  Y  G  K  I  A  E  A  F  R  L  P  T  A  E   | V  M  F  C      p.100

          .         .         .         .         .         .       g.20443
 ACCCTGAACACCCACAAAGTGGACATGGACAAGCTCCTGGGGGGCCAGATCGGGCTGGAG       c.360
 T  L  N  T  H  K  V  D  M  D  K  L  L  G  G  Q  I  G  L  E         p.120

          .         .         .         .         .         .       g.20503
 GACTTCATCTTCGCCCACGTGAAGGGGCAGCGCAAGGAGGTGGAGGTGTTCAAGTCGGAG       c.420
 D  F  I  F  A  H  V  K  G  Q  R  K  E  V  E  V  F  K  S  E         p.140

          .         .         .         .         .     | 06   .    g.20670
 GATGCACTCGGGCTCACCATCACGGACAACGGGGCTGGCTACGCCTTCATCAAG | CGCATC    c.480
 D  A  L  G  L  T  I  T  D  N  G  A  G  Y  A  F  I  K   | R  I      p.160

          .         .         .         .         .         .       g.20730
 AAGGAGGGCAGCGTGATCGACCACATCCACCTCATCAGCGTGGGCGACATGATCGAGGCC       c.540
 K  E  G  S  V  I  D  H  I  H  L  I  S  V  G  D  M  I  E  A         p.180

          .         .         .         .         .         .       g.20790
 ATTAACGGGCAGAGCCTGCTGGGCTGCCGGCACTACGAGGTGGCCCGGCTGCTCAAGGAG       c.600
 I  N  G  Q  S  L  L  G  C  R  H  Y  E  V  A  R  L  L  K  E         p.200

          .         .         .         .         .      | 07  .    g.21630
 CTGCCCCGAGGCCGTACCTTCACGCTGAAGCTCACGGAGCCTCGCAAGGCCTTCG | ACATG    c.660
 L  P  R  G  R  T  F  T  L  K  L  T  E  P  R  K  A  F  D |   M      p.220

          .         .         .         .         .         .       g.21690
 ATCAGCCAGCGTTCAGCGGGTGGCCGCCCTGGCTCTGGCCCACAACTGGGCACTGGCCGA       c.720
 I  S  Q  R  S  A  G  G  R  P  G  S  G  P  Q  L  G  T  G  R         p.240

          .         .         .         .         | 08         .    g.22396
 GGGACCCTGCGGCTCCGATCCCGGGGCCCCGCCACGGTGGAGGATCTG | CCCTCTGCCTTT    c.780
 G  T  L  R  L  R  S  R  G  P  A  T  V  E  D  L   | P  S  A  F      p.260

          .         .         .         .         .         .       g.22456
 GAAGAGAAGGCCATTGAGAAGGTGGATGACCTGCTGGAGAGTTACATGGGTATCAGGGAC       c.840
 E  E  K  A  I  E  K  V  D  D  L  L  E  S  Y  M  G  I  R  D         p.280

          . | 09       .         .         .         .         .    g.22632
 ACGGAGCTGG | CGGCCACCATGGTGGAGCTGGGAAAGGACAAAAGGAACCCGGATGAGCTG    c.900
 T  E  L  A |   A  T  M  V  E  L  G  K  D  K  R  N  P  D  E  L      p.300

          .         .         .         .         .         .       g.22692
 GCCGAGGCCCTGGACGAACGGCTGGGTGACTTTGCCTTCCCTGACGAGTTCGTCTTTGAC       c.960
 A  E  A  L  D  E  R  L  G  D  F  A  F  P  D  E  F  V  F  D         p.320

          .         .         .         .                           g.22734
 GTCTGGGGCGCCATTGGGGACGCCAAGGTCGGCCGCTACTAG                         c.1002
 V  W  G  A  I  G  D  A  K  V  G  R  Y  X                           p.333

          .         .         .         .         .         .       g.22794
 gactgcccccggaccctgcgatgatgacccgggcgcaacctggtgggggcccccagcagg       c.*60

          .         .         .         .         .         .       g.22854
 gacactgacgtcaggacccgagcctccagcctgagcctagctcagcagcccaaggacgat       c.*120

          .         .         .         .         .         .       g.22914
 ggtgaggggaggtggggccaggccccctgccccgctccaatcggtaccatcccctccctg       c.*180

          .         .         .         .         .         .       g.22974
 gttcccagtctggccggggtccccggcccccctgtgccctgttccccacctacctcagct       c.*240

          .         .         .         .         .         .       g.23034
 gggtcaggcacagggaggggagggatcagccaaattgggcggccacccccgcctccacca       c.*300

          .         .         .         .         .         .       g.23094
 ctttccaccatcagctgccaaactggtccctctgtctccctggggccttgggttctgttt       c.*360

          .         .         .         .         .         .       g.23154
 gggggtcatgaccttcctagtttcctgacgcagggaatacaggggagagggttgtccttc       c.*420

          .         .         .         .         .         .       g.23214
 cccccagcaaatgcaataatgccctcacccctcctgagaggagccccctccctgtggagc       c.*480

          .         .         .         .         .         .       g.23274
 ctgttacctccgcatttgacacgagtctgctgtgaaccccgcaacctcctccccacctcc       c.*540

          .         .         .         .         .         .       g.23334
 catctctccttccaggcccatccctggcccagagcaggagggagggagggacgatggcgg       c.*600

          .         .         .         .         .                 g.23391
 tgggtttttgtatctgaatttgctgtcttgaacataaagaatctatctgctgttgga          c.*657

 (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 GIPC PDZ domain containing family, member 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.