Canonical Allele Identifier: CA414705489

Gene: GPC3

Linked Data

• dbSNP Id: rs1456458902
• COSMIC: COSM1196315 ; COSM1682893
• MyVariant Identifiers: chrX:g.132887676C>A (hg19) ; chrX:g.133753649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753649C>A , CM000685.2:g.133753649C>A	GRCh38
NC_000023.10:g.132887676C>A , CM000685.1:g.132887676C>A	GRCh37
NC_000023.9:g.132715342C>A	NCBI36
NG_009286.1:g.236991G>T , LRG_505:g.236991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.54G>T
ENST00000684880.1:c.*453G>T	ENSP00000510280.1:n.*453G>T
ENST00000689310.1:c.817G>T	ENSP00000510438.1:p.Val273Leu
ENST00000692084.1:c.59G>T
ENST00000370818.8:c.865G>T MANE Select	ENSP00000359854.3:p.Val289Leu
ENST00000394299.7:c.865G>T	ENSP00000377836.2:p.Val289Leu
ENST00000666673.1:n.59G>T
ENST00000370818.7:c.865G>T	ENSP00000359854.3:p.Val289Leu
ENST00000394299.6:c.865G>T	ENSP00000377836.2:p.Val289Leu
ENST00000406757.2:c.54G>T
ENST00000631057.2:c.703G>T	ENSP00000486325.1:p.Val235Leu
NM_001164617.1:c.865G>T	NP_001158089.1:p.Val289Leu
NM_001164618.1:c.817G>T	NP_001158090.1:p.Val273Leu
NM_001164619.1:c.703G>T	NP_001158091.1:p.Val235Leu
NM_004484.3:c.865G>T , LRG_505t1:c.865G>T	NP_004475.1:p.Val289Leu
XM_017029413.2:c.865G>T	XP_016884902.1:p.Val289Leu
NM_001164617.2:c.865G>T	NP_001158089.1:p.Val289Leu
NM_001164618.2:c.817G>T	NP_001158090.1:p.Val273Leu
NM_001164619.2:c.703G>T	NP_001158091.1:p.Val235Leu
NM_004484.4:c.865G>T MANE Select	NP_004475.1:p.Val289Leu