Canonical Allele Identifier: CA414706321

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1039494
• ClinVar RCV Id: RCV001342976
• dbSNP Id: rs2071698705
• MyVariant Identifiers: chrX:g.132887965C>G (hg19) ; chrX:g.133753938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753938C>G , CM000685.2:g.133753938C>G	GRCh38
NC_000023.10:g.132887965C>G , CM000685.1:g.132887965C>G	GRCh37
NC_000023.9:g.132715631C>G	NCBI36
NG_009286.1:g.236702G>C , LRG_505:g.236702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*164G>C	ENSP00000510280.1:n.*164G>C
ENST00000689310.1:c.528G>C	ENSP00000510438.1:p.Leu176Phe
ENST00000370818.8:c.576G>C MANE Select	ENSP00000359854.3:p.Leu192Phe
ENST00000394299.7:c.576G>C	ENSP00000377836.2:p.Leu192Phe
ENST00000370818.7:c.576G>C	ENSP00000359854.3:p.Leu192Phe
ENST00000394299.6:c.576G>C	ENSP00000377836.2:p.Leu192Phe
ENST00000631057.2:c.414G>C	ENSP00000486325.1:p.Leu138Phe
NM_001164617.1:c.576G>C	NP_001158089.1:p.Leu192Phe
NM_001164618.1:c.528G>C	NP_001158090.1:p.Leu176Phe
NM_001164619.1:c.414G>C	NP_001158091.1:p.Leu138Phe
NM_004484.3:c.576G>C , LRG_505t1:c.576G>C	NP_004475.1:p.Leu192Phe
XM_017029413.2:c.576G>C	XP_016884902.1:p.Leu192Phe
NM_001164617.2:c.576G>C	NP_001158089.1:p.Leu192Phe
NM_001164618.2:c.528G>C	NP_001158090.1:p.Leu176Phe
NM_001164619.2:c.414G>C	NP_001158091.1:p.Leu138Phe
NM_004484.4:c.576G>C MANE Select	NP_004475.1:p.Leu192Phe