Canonical Allele Identifier: CA414706308

Gene: GPC3

Linked Data

• gnomAD v4: X-133753933-A-G
• MyVariant Identifiers: chrX:g.132887960A>G (hg19) ; chrX:g.133753933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753933A>G , CM000685.2:g.133753933A>G	GRCh38
NC_000023.10:g.132887960A>G , CM000685.1:g.132887960A>G	GRCh37
NC_000023.9:g.132715626A>G	NCBI36
NG_009286.1:g.236707T>C , LRG_505:g.236707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*169T>C	ENSP00000510280.1:n.*169T>C
ENST00000689310.1:c.533T>C	ENSP00000510438.1:p.Ile178Thr
ENST00000370818.8:c.581T>C MANE Select	ENSP00000359854.3:p.Ile194Thr
ENST00000394299.7:c.581T>C	ENSP00000377836.2:p.Ile194Thr
ENST00000370818.7:c.581T>C	ENSP00000359854.3:p.Ile194Thr
ENST00000394299.6:c.581T>C	ENSP00000377836.2:p.Ile194Thr
ENST00000631057.2:c.419T>C	ENSP00000486325.1:p.Ile140Thr
NM_001164617.1:c.581T>C	NP_001158089.1:p.Ile194Thr
NM_001164618.1:c.533T>C	NP_001158090.1:p.Ile178Thr
NM_001164619.1:c.419T>C	NP_001158091.1:p.Ile140Thr
NM_004484.3:c.581T>C , LRG_505t1:c.581T>C	NP_004475.1:p.Ile194Thr
XM_017029413.2:c.581T>C	XP_016884902.1:p.Ile194Thr
NM_001164617.2:c.581T>C	NP_001158089.1:p.Ile194Thr
NM_001164618.2:c.533T>C	NP_001158090.1:p.Ile178Thr
NM_001164619.2:c.419T>C	NP_001158091.1:p.Ile140Thr
NM_004484.4:c.581T>C MANE Select	NP_004475.1:p.Ile194Thr