Canonical Allele Identifier: CA414702488

Gene: GPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133536165T>C , CM000685.2:g.133536165T>C	GRCh38
NC_000023.10:g.132670193T>C , CM000685.1:g.132670193T>C	GRCh37
NC_000023.9:g.132497859T>C	NCBI36
NG_009286.1:g.454474A>G , LRG_505:g.454474A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004484.4:c.1702A>G MANE Select	NP_004475.1:p.Met568Val
ENST00000370818.8:c.1702A>G MANE Select	ENSP00000359854.3:p.Met568Val
NM_001164617.1:c.1771A>G	NP_001158089.1:p.Met591Val
NM_001164617.2:c.1771A>G	NP_001158089.1:p.Met591Val
NM_001164618.1:c.1654A>G	NP_001158090.1:p.Met552Val
NM_001164618.2:c.1654A>G	NP_001158090.1:p.Met552Val
NM_001164619.1:c.1540A>G	NP_001158091.1:p.Met514Val
NM_001164619.2:c.1540A>G	NP_001158091.1:p.Met514Val
NM_004484.3:c.1702A>G , LRG_505t1:c.1702A>G	NP_004475.1:p.Met568Val
ENST00000370818.7:c.1702A>G	ENSP00000359854.3:p.Met568Val
ENST00000394299.6:c.1771A>G	ENSP00000377836.2:p.Met591Val
ENST00000394299.7:c.1771A>G	ENSP00000377836.2:p.Met591Val
ENST00000406757.3:c.891A>G
ENST00000631057.2:c.1540A>G	ENSP00000486325.1:p.Met514Val
ENST00000666017.1:n.580A>G
ENST00000666673.1:n.989A>G
ENST00000666673.2:n.733A>G
ENST00000667662.1:n.769A>G
ENST00000669691.1:n.768A>G
ENST00000689310.1:c.1654A>G	ENSP00000510438.1:p.Met552Val
ENST00000692074.1:n.646A>G
ENST00000692084.1:c.989A>G