Canonical Allele Identifier: CA414705167

Gene: GPC3

Linked Data

• gnomAD v4: X-133753559-C-A
• MyVariant Identifiers: chrX:g.132887586C>A (hg19) ; chrX:g.133753559C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753559C>A , CM000685.2:g.133753559C>A	GRCh38
NC_000023.10:g.132887586C>A , CM000685.1:g.132887586C>A	GRCh37
NC_000023.9:g.132715252C>A	NCBI36
NG_009286.1:g.237081G>T , LRG_505:g.237081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.144G>T
ENST00000684880.1:c.*543G>T	ENSP00000510280.1:n.*543G>T
ENST00000689310.1:c.907G>T	ENSP00000510438.1:p.Val303Leu
ENST00000692084.1:c.149G>T
ENST00000370818.8:c.955G>T MANE Select	ENSP00000359854.3:p.Val319Leu
ENST00000394299.7:c.955G>T	ENSP00000377836.2:p.Val319Leu
ENST00000666673.1:n.149G>T
ENST00000370818.7:c.955G>T	ENSP00000359854.3:p.Val319Leu
ENST00000394299.6:c.955G>T	ENSP00000377836.2:p.Val319Leu
ENST00000406757.2:c.144G>T
ENST00000631057.2:c.793G>T	ENSP00000486325.1:p.Val265Leu
NM_001164617.1:c.955G>T	NP_001158089.1:p.Val319Leu
NM_001164618.1:c.907G>T	NP_001158090.1:p.Val303Leu
NM_001164619.1:c.793G>T	NP_001158091.1:p.Val265Leu
NM_004484.3:c.955G>T , LRG_505t1:c.955G>T	NP_004475.1:p.Val319Leu
XM_017029413.2:c.955G>T	XP_016884902.1:p.Val319Leu
NM_001164617.2:c.955G>T	NP_001158089.1:p.Val319Leu
NM_001164618.2:c.907G>T	NP_001158090.1:p.Val303Leu
NM_001164619.2:c.793G>T	NP_001158091.1:p.Val265Leu
NM_004484.4:c.955G>T MANE Select	NP_004475.1:p.Val319Leu