Canonical Allele Identifier: CA518635557
Community Standard Title: NM_004484.4(GPC3):c.1377C>T (p.Val459=)
Gene: GPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133661766G>A , CM000685.2:g.133661766G>A GRCh38
NC_000023.10:g.132795794G>A , CM000685.1:g.132795794G>A GRCh37
NC_000023.9:g.132623460G>A NCBI36
NG_009286.1:g.328873C>T , LRG_505:g.328873C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004484.4:c.1377C>T MANE Select NP_004475.1:p.Val459=
ENST00000370818.8:c.1377C>T MANE Select ENSP00000359854.3:p.Val459=
NM_001164617.1:c.1446C>T NP_001158089.1:p.Val482=
NM_001164617.2:c.1446C>T NP_001158089.1:p.Val482=
NM_001164618.1:c.1329C>T NP_001158090.1:p.Val443=
NM_001164618.2:c.1329C>T NP_001158090.1:p.Val443=
NM_001164619.1:c.1215C>T NP_001158091.1:p.Val405=
NM_001164619.2:c.1215C>T NP_001158091.1:p.Val405=
NM_004484.3:c.1377C>T , LRG_505t1:c.1377C>T NP_004475.1:p.Val459=
ENST00000370818.7:c.1377C>T ENSP00000359854.3:p.Val459=
ENST00000394299.6:c.1446C>T ENSP00000377836.2:p.Val482=
ENST00000394299.7:c.1446C>T ENSP00000377836.2:p.Val482=
ENST00000406757.2:c.566C>T
ENST00000406757.3:c.566C>T
ENST00000631057.2:c.1215C>T ENSP00000486325.1:p.Val405=
ENST00000666017.1:n.255C>T
ENST00000666673.1:n.664C>T
ENST00000666673.2:n.408C>T
ENST00000667662.1:n.444C>T
ENST00000669691.1:n.443C>T
ENST00000689310.1:c.1329C>T ENSP00000510438.1:p.Val443=
ENST00000692074.1:n.321C>T
ENST00000692084.1:c.664C>T