Canonical Allele Identifier: CA518638245

Gene: GPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133692410T>C , CM000685.2:g.133692410T>C	GRCh38
NC_000023.10:g.132826438T>C , CM000685.1:g.132826438T>C	GRCh37
NC_000023.9:g.132654104T>C	NCBI36
NG_009286.1:g.298229A>G , LRG_505:g.298229A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004484.4:c.1251A>G MANE Select	NP_004475.1:p.Glu417=
ENST00000370818.8:c.1251A>G MANE Select	ENSP00000359854.3:p.Glu417=
NM_001164617.1:c.1320A>G	NP_001158089.1:p.Glu440=
NM_001164617.2:c.1320A>G	NP_001158089.1:p.Glu440=
NM_001164618.1:c.1203A>G	NP_001158090.1:p.Glu401=
NM_001164618.2:c.1203A>G	NP_001158090.1:p.Glu401=
NM_001164619.1:c.1089A>G	NP_001158091.1:p.Glu363=
NM_001164619.2:c.1089A>G	NP_001158091.1:p.Glu363=
NM_004484.3:c.1251A>G , LRG_505t1:c.1251A>G	NP_004475.1:p.Glu417=
ENST00000370818.7:c.1251A>G	ENSP00000359854.3:p.Glu417=
ENST00000394299.6:c.1320A>G	ENSP00000377836.2:p.Glu440=
ENST00000394299.7:c.1320A>G	ENSP00000377836.2:p.Glu440=
ENST00000406757.2:c.440A>G
ENST00000406757.3:c.440A>G
ENST00000631057.2:c.1089A>G	ENSP00000486325.1:p.Glu363=
ENST00000666673.1:n.538A>G
ENST00000666673.2:n.282A>G
ENST00000667662.1:n.318A>G
ENST00000669691.1:n.317A>G
ENST00000684880.1:c.*839A>G	ENSP00000510280.1:n.*839A>G
ENST00000689310.1:c.1203A>G	ENSP00000510438.1:p.Glu401=
ENST00000692084.1:c.538A>G
XM_017029413.2:c.1251A>G	XP_016884902.1:p.Glu417=