Canonical Allele Identifier: CA518632150

Gene: GPC3

Linked Data

• ClinVar Variation Id: 543112
• ClinVar RCV Id: RCV000653773
• dbSNP Id: rs1556111517
• gnomAD v4: X-133536130-C-T
• MyVariant Identifiers: chrX:g.132670158C>T (hg19) ; chrX:g.133536130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133536130C>T , CM000685.2:g.133536130C>T	GRCh38
NC_000023.10:g.132670158C>T , CM000685.1:g.132670158C>T	GRCh37
NC_000023.9:g.132497824C>T	NCBI36
NG_009286.1:g.454509G>A , LRG_505:g.454509G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000406757.3:c.926G>A
ENST00000689310.1:c.1689G>A	ENSP00000510438.1:p.Val563=
ENST00000692084.1:c.1024G>A
ENST00000370818.8:c.1737G>A MANE Select	ENSP00000359854.3:p.Val579=
ENST00000394299.7:c.1806G>A	ENSP00000377836.2:p.Val602=
ENST00000669691.1:n.803G>A
ENST00000370818.7:c.1737G>A	ENSP00000359854.3:p.Val579=
ENST00000394299.6:c.1806G>A	ENSP00000377836.2:p.Val602=
ENST00000631057.2:c.1575G>A	ENSP00000486325.1:p.Val525=
NM_001164617.1:c.1806G>A	NP_001158089.1:p.Val602=
NM_001164618.1:c.1689G>A	NP_001158090.1:p.Val563=
NM_001164619.1:c.1575G>A	NP_001158091.1:p.Val525=
NM_004484.3:c.1737G>A , LRG_505t1:c.1737G>A	NP_004475.1:p.Val579=
NM_001164617.2:c.1806G>A	NP_001158089.1:p.Val602=
NM_001164618.2:c.1689G>A	NP_001158090.1:p.Val563=
NM_001164619.2:c.1575G>A	NP_001158091.1:p.Val525=
NM_004484.4:c.1737G>A MANE Select	NP_004475.1:p.Val579=