Canonical Allele Identifier: CA414705241

Gene: GPC3

Linked Data

• dbSNP Id: rs1383580639
• gnomAD v2: X-132887616-C-G
• gnomAD v4: X-133753589-C-G
• MyVariant Identifiers: chrX:g.132887616C>G (hg19) ; chrX:g.133753589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753589C>G , CM000685.2:g.133753589C>G	GRCh38
NC_000023.10:g.132887616C>G , CM000685.1:g.132887616C>G	GRCh37
NC_000023.9:g.132715282C>G	NCBI36
NG_009286.1:g.237051G>C , LRG_505:g.237051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.114G>C
ENST00000684880.1:c.*513G>C	ENSP00000510280.1:n.*513G>C
ENST00000689310.1:c.877G>C	ENSP00000510438.1:p.Gly293Arg
ENST00000692084.1:c.119G>C
ENST00000370818.8:c.925G>C MANE Select	ENSP00000359854.3:p.Gly309Arg
ENST00000394299.7:c.925G>C	ENSP00000377836.2:p.Gly309Arg
ENST00000666673.1:n.119G>C
ENST00000370818.7:c.925G>C	ENSP00000359854.3:p.Gly309Arg
ENST00000394299.6:c.925G>C	ENSP00000377836.2:p.Gly309Arg
ENST00000406757.2:c.114G>C
ENST00000631057.2:c.763G>C	ENSP00000486325.1:p.Gly255Arg
NM_001164617.1:c.925G>C	NP_001158089.1:p.Gly309Arg
NM_001164618.1:c.877G>C	NP_001158090.1:p.Gly293Arg
NM_001164619.1:c.763G>C	NP_001158091.1:p.Gly255Arg
NM_004484.3:c.925G>C , LRG_505t1:c.925G>C	NP_004475.1:p.Gly309Arg
XM_017029413.2:c.925G>C	XP_016884902.1:p.Gly309Arg
NM_001164617.2:c.925G>C	NP_001158089.1:p.Gly309Arg
NM_001164618.2:c.877G>C	NP_001158090.1:p.Gly293Arg
NM_001164619.2:c.763G>C	NP_001158091.1:p.Gly255Arg
NM_004484.4:c.925G>C MANE Select	NP_004475.1:p.Gly309Arg