Canonical Allele Identifier: CA414700198

Gene: GPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133700016A>G , CM000685.2:g.133700016A>G	GRCh38
NC_000023.10:g.132834044A>G , CM000685.1:g.132834044A>G	GRCh37
NC_000023.9:g.132661710A>G	NCBI36
NG_009286.1:g.290623T>C , LRG_505:g.290623T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004484.4:c.1045T>C MANE Select	NP_004475.1:p.Cys349Arg
ENST00000370818.8:c.1045T>C MANE Select	ENSP00000359854.3:p.Cys349Arg
NM_001164617.1:c.1114T>C	NP_001158089.1:p.Cys372Arg
NM_001164617.2:c.1114T>C	NP_001158089.1:p.Cys372Arg
NM_001164618.1:c.997T>C	NP_001158090.1:p.Cys333Arg
NM_001164618.2:c.997T>C	NP_001158090.1:p.Cys333Arg
NM_001164619.1:c.883T>C	NP_001158091.1:p.Cys295Arg
NM_001164619.2:c.883T>C	NP_001158091.1:p.Cys295Arg
NM_004484.3:c.1045T>C , LRG_505t1:c.1045T>C	NP_004475.1:p.Cys349Arg
ENST00000370818.7:c.1045T>C	ENSP00000359854.3:p.Cys349Arg
ENST00000394299.6:c.1114T>C	ENSP00000377836.2:p.Cys372Arg
ENST00000394299.7:c.1114T>C	ENSP00000377836.2:p.Cys372Arg
ENST00000406757.2:c.234T>C
ENST00000406757.3:c.234T>C
ENST00000631057.2:c.883T>C	ENSP00000486325.1:p.Cys295Arg
ENST00000666673.1:n.332T>C
ENST00000666673.2:n.76T>C
ENST00000667662.1:n.112T>C
ENST00000669691.1:n.91T>C
ENST00000684880.1:c.*633T>C	ENSP00000510280.1:n.*633T>C
ENST00000689310.1:c.997T>C	ENSP00000510438.1:p.Cys333Arg
ENST00000692084.1:c.332T>C
XM_017029413.2:c.1045T>C	XP_016884902.1:p.Cys349Arg