Canonical Allele Identifier: CA414701196
Community Standard Title: NM_004484.4(GPC3):c.1494C>A (p.Cys498Ter)
Gene: GPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133596519G>T , CM000685.2:g.133596519G>T GRCh38
NC_000023.10:g.132730547G>T , CM000685.1:g.132730547G>T GRCh37
NC_000023.9:g.132558213G>T NCBI36
NG_009286.1:g.394120C>A , LRG_505:g.394120C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004484.4:c.1494C>A MANE Select NP_004475.1:p.Cys498Ter
ENST00000370818.8:c.1494C>A MANE Select ENSP00000359854.3:p.Cys498Ter
NM_001164617.1:c.1563C>A NP_001158089.1:p.Cys521Ter
NM_001164617.2:c.1563C>A NP_001158089.1:p.Cys521Ter
NM_001164618.1:c.1446C>A NP_001158090.1:p.Cys482Ter
NM_001164618.2:c.1446C>A NP_001158090.1:p.Cys482Ter
NM_001164619.1:c.1332C>A NP_001158091.1:p.Cys444Ter
NM_001164619.2:c.1332C>A NP_001158091.1:p.Cys444Ter
NM_004484.3:c.1494C>A , LRG_505t1:c.1494C>A NP_004475.1:p.Cys498Ter
ENST00000370818.7:c.1494C>A ENSP00000359854.3:p.Cys498Ter
ENST00000394299.6:c.1563C>A ENSP00000377836.2:p.Cys521Ter
ENST00000394299.7:c.1563C>A ENSP00000377836.2:p.Cys521Ter
ENST00000406757.2:c.683C>A
ENST00000406757.3:c.683C>A
ENST00000631057.2:c.1332C>A ENSP00000486325.1:p.Cys444Ter
ENST00000666017.1:n.372C>A
ENST00000666673.1:n.781C>A
ENST00000666673.2:n.525C>A
ENST00000667662.1:n.561C>A
ENST00000669691.1:n.560C>A
ENST00000689310.1:c.1446C>A ENSP00000510438.1:p.Cys482Ter
ENST00000692074.1:n.438C>A
ENST00000692084.1:c.781C>A