Canonical Allele Identifier: CA414705638

Gene: GPC3

Linked Data

• ClinVar Variation Id: 476667
• ClinVar RCV Id: RCV000534602
• dbSNP Id: rs1556297671
• MyVariant Identifiers: chrX:g.132887709A>G (hg19) ; chrX:g.133753682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753682A>G , CM000685.2:g.133753682A>G	GRCh38
NC_000023.10:g.132887709A>G , CM000685.1:g.132887709A>G	GRCh37
NC_000023.9:g.132715375A>G	NCBI36
NG_009286.1:g.236958T>C , LRG_505:g.236958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.21T>C
ENST00000684880.1:c.*420T>C	ENSP00000510280.1:n.*420T>C
ENST00000689310.1:c.784T>C	ENSP00000510438.1:p.Cys262Arg
ENST00000692084.1:c.26T>C
ENST00000370818.8:c.832T>C MANE Select	ENSP00000359854.3:p.Cys278Arg
ENST00000394299.7:c.832T>C	ENSP00000377836.2:p.Cys278Arg
ENST00000666673.1:n.26T>C
ENST00000370818.7:c.832T>C	ENSP00000359854.3:p.Cys278Arg
ENST00000394299.6:c.832T>C	ENSP00000377836.2:p.Cys278Arg
ENST00000406757.2:c.21T>C
ENST00000631057.2:c.670T>C	ENSP00000486325.1:p.Cys224Arg
NM_001164617.1:c.832T>C	NP_001158089.1:p.Cys278Arg
NM_001164618.1:c.784T>C	NP_001158090.1:p.Cys262Arg
NM_001164619.1:c.670T>C	NP_001158091.1:p.Cys224Arg
NM_004484.3:c.832T>C , LRG_505t1:c.832T>C	NP_004475.1:p.Cys278Arg
XM_017029413.2:c.832T>C	XP_016884902.1:p.Cys278Arg
NM_001164617.2:c.832T>C	NP_001158089.1:p.Cys278Arg
NM_001164618.2:c.784T>C	NP_001158090.1:p.Cys262Arg
NM_001164619.2:c.670T>C	NP_001158091.1:p.Cys224Arg
NM_004484.4:c.832T>C MANE Select	NP_004475.1:p.Cys278Arg