Canonical Allele Identifier: CA10520642
Community Standard Title: NM_004484.4(GPC3):c.1619A>G (p.Gln540Arg)
Gene: GPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133536248T>C , CM000685.2:g.133536248T>C GRCh38
NC_000023.10:g.132670276T>C , CM000685.1:g.132670276T>C GRCh37
NC_000023.9:g.132497942T>C NCBI36
NG_009286.1:g.454391A>G , LRG_505:g.454391A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004484.4:c.1619A>G MANE Select NP_004475.1:p.Gln540Arg
ENST00000370818.8:c.1619A>G MANE Select ENSP00000359854.3:p.Gln540Arg
NM_001164617.1:c.1688A>G NP_001158089.1:p.Gln563Arg
NM_001164617.2:c.1688A>G NP_001158089.1:p.Gln563Arg
NM_001164618.1:c.1571A>G NP_001158090.1:p.Gln524Arg
NM_001164618.2:c.1571A>G NP_001158090.1:p.Gln524Arg
NM_001164619.1:c.1457A>G NP_001158091.1:p.Gln486Arg
NM_001164619.2:c.1457A>G NP_001158091.1:p.Gln486Arg
NM_004484.3:c.1619A>G , LRG_505t1:c.1619A>G NP_004475.1:p.Gln540Arg
ENST00000370818.7:c.1619A>G ENSP00000359854.3:p.Gln540Arg
ENST00000394299.6:c.1688A>G ENSP00000377836.2:p.Gln563Arg
ENST00000394299.7:c.1688A>G ENSP00000377836.2:p.Gln563Arg
ENST00000406757.3:c.808A>G
ENST00000631057.2:c.1457A>G ENSP00000486325.1:p.Gln486Arg
ENST00000666017.1:n.497A>G
ENST00000666673.1:n.906A>G
ENST00000666673.2:n.650A>G
ENST00000667662.1:n.686A>G
ENST00000669691.1:n.685A>G
ENST00000689310.1:c.1571A>G ENSP00000510438.1:p.Gln524Arg
ENST00000692074.1:n.563A>G
ENST00000692084.1:c.906A>G