Canonical Allele Identifier: CA518852763

Gene: GPC3

Linked Data

• ClinVar Variation Id: 2713388
• ClinVar RCV Id: RCV003501343
• dbSNP Id: rs2071700412
• gnomAD v4: X-133754007-T-C
• MyVariant Identifiers: chrX:g.132888034T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133754007T>C , CM000685.2:g.133754007T>C	GRCh38
NC_000023.10:g.132888034T>C , CM000685.1:g.132888034T>C	GRCh37
NC_000023.9:g.132715700T>C	NCBI36
NG_009286.1:g.236633A>G , LRG_505:g.236633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*95A>G	ENSP00000510280.1:n.*95A>G
ENST00000689310.1:c.459A>G	ENSP00000510438.1:p.Glu153=
ENST00000370818.8:c.507A>G MANE Select	ENSP00000359854.3:p.Glu169=
ENST00000394299.7:c.507A>G	ENSP00000377836.2:p.Glu169=
ENST00000370818.7:c.507A>G	ENSP00000359854.3:p.Glu169=
ENST00000394299.6:c.507A>G	ENSP00000377836.2:p.Glu169=
ENST00000631057.2:c.345A>G	ENSP00000486325.1:p.Glu115=
NM_001164617.1:c.507A>G	NP_001158089.1:p.Glu169=
NM_001164618.1:c.459A>G	NP_001158090.1:p.Glu153=
NM_001164619.1:c.345A>G	NP_001158091.1:p.Glu115=
NM_004484.3:c.507A>G , LRG_505t1:c.507A>G	NP_004475.1:p.Glu169=
XM_017029413.2:c.507A>G	XP_016884902.1:p.Glu169=
NM_001164617.2:c.507A>G	NP_001158089.1:p.Glu169=
NM_001164618.2:c.459A>G	NP_001158090.1:p.Glu153=
NM_001164619.2:c.345A>G	NP_001158091.1:p.Glu115=
NM_004484.4:c.507A>G MANE Select	NP_004475.1:p.Glu169=