Canonical Allele Identifier: CA414705414
Community Standard Title: NM_004484.4(GPC3):c.1258A>T (p.Thr420Ser)
Gene: GPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133692403T>A , CM000685.2:g.133692403T>A GRCh38
NC_000023.10:g.132826431T>A , CM000685.1:g.132826431T>A GRCh37
NC_000023.9:g.132654097T>A NCBI36
NG_009286.1:g.298236A>T , LRG_505:g.298236A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004484.4:c.1258A>T MANE Select NP_004475.1:p.Thr420Ser
ENST00000370818.8:c.1258A>T MANE Select ENSP00000359854.3:p.Thr420Ser
NM_001164617.1:c.1327A>T NP_001158089.1:p.Thr443Ser
NM_001164617.2:c.1327A>T NP_001158089.1:p.Thr443Ser
NM_001164618.1:c.1210A>T NP_001158090.1:p.Thr404Ser
NM_001164618.2:c.1210A>T NP_001158090.1:p.Thr404Ser
NM_001164619.1:c.1096A>T NP_001158091.1:p.Thr366Ser
NM_001164619.2:c.1096A>T NP_001158091.1:p.Thr366Ser
NM_004484.3:c.1258A>T , LRG_505t1:c.1258A>T NP_004475.1:p.Thr420Ser
ENST00000370818.7:c.1258A>T ENSP00000359854.3:p.Thr420Ser
ENST00000394299.6:c.1327A>T ENSP00000377836.2:p.Thr443Ser
ENST00000394299.7:c.1327A>T ENSP00000377836.2:p.Thr443Ser
ENST00000406757.2:c.447A>T
ENST00000406757.3:c.447A>T
ENST00000631057.2:c.1096A>T ENSP00000486325.1:p.Thr366Ser
ENST00000666673.1:n.545A>T
ENST00000666673.2:n.289A>T
ENST00000667662.1:n.325A>T
ENST00000669691.1:n.324A>T
ENST00000684880.1:c.*846A>T ENSP00000510280.1:n.*846A>T
ENST00000689310.1:c.1210A>T ENSP00000510438.1:p.Thr404Ser
ENST00000692084.1:c.545A>T
XM_017029413.2:c.1258A>T XP_016884902.1:p.Thr420Ser