Canonical Allele Identifier: CA335977760

Gene: GPC3

Linked Data

• dbSNP Id: rs976805055
• gnomAD v4: X-133699915-T-G
• MyVariant Identifiers: chrX:g.132833943T>G (hg19) ; chrX:g.133699915T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133699915T>G , CM000685.2:g.133699915T>G	GRCh38
NC_000023.10:g.132833943T>G , CM000685.1:g.132833943T>G	GRCh37
NC_000023.9:g.132661609T>G	NCBI36
NG_009286.1:g.290724A>C , LRG_505:g.290724A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.335A>C
ENST00000666673.2:n.177A>C
ENST00000684880.1:c.*734A>C	ENSP00000510280.1:n.*734A>C
ENST00000689310.1:c.1098A>C	ENSP00000510438.1:p.Glu366Asp
ENST00000692084.1:c.433A>C
ENST00000370818.8:c.1146A>C MANE Select	ENSP00000359854.3:p.Glu382Asp
ENST00000394299.7:c.1215A>C	ENSP00000377836.2:p.Glu405Asp
ENST00000666673.1:n.433A>C
ENST00000667662.1:n.213A>C
ENST00000669691.1:n.192A>C
ENST00000370818.7:c.1146A>C	ENSP00000359854.3:p.Glu382Asp
ENST00000394299.6:c.1215A>C	ENSP00000377836.2:p.Glu405Asp
ENST00000406757.2:c.335A>C
ENST00000631057.2:c.984A>C	ENSP00000486325.1:p.Glu328Asp
NM_001164617.1:c.1215A>C	NP_001158089.1:p.Glu405Asp
NM_001164618.1:c.1098A>C	NP_001158090.1:p.Glu366Asp
NM_001164619.1:c.984A>C	NP_001158091.1:p.Glu328Asp
NM_004484.3:c.1146A>C , LRG_505t1:c.1146A>C	NP_004475.1:p.Glu382Asp
XM_017029413.2:c.1146A>C	XP_016884902.1:p.Glu382Asp
NM_001164617.2:c.1215A>C	NP_001158089.1:p.Glu405Asp
NM_001164618.2:c.1098A>C	NP_001158090.1:p.Glu366Asp
NM_001164619.2:c.984A>C	NP_001158091.1:p.Glu328Asp
NM_004484.4:c.1146A>C MANE Select	NP_004475.1:p.Glu382Asp