Canonical Allele Identifier: CA10520771
Community Standard Title: NM_004484.4(GPC3):c.955G>A (p.Val319Ile)
Gene: GPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.133753559C>T , CM000685.2:g.133753559C>T GRCh38
NC_000023.10:g.132887586C>T , CM000685.1:g.132887586C>T GRCh37
NC_000023.9:g.132715252C>T NCBI36
NG_009286.1:g.237081G>A , LRG_505:g.237081G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004484.4:c.955G>A MANE Select NP_004475.1:p.Val319Ile
ENST00000370818.8:c.955G>A MANE Select ENSP00000359854.3:p.Val319Ile
NM_001164617.1:c.955G>A NP_001158089.1:p.Val319Ile
NM_001164617.2:c.955G>A NP_001158089.1:p.Val319Ile
NM_001164618.1:c.907G>A NP_001158090.1:p.Val303Ile
NM_001164618.2:c.907G>A NP_001158090.1:p.Val303Ile
NM_001164619.1:c.793G>A NP_001158091.1:p.Val265Ile
NM_001164619.2:c.793G>A NP_001158091.1:p.Val265Ile
NM_004484.3:c.955G>A , LRG_505t1:c.955G>A NP_004475.1:p.Val319Ile
ENST00000370818.7:c.955G>A ENSP00000359854.3:p.Val319Ile
ENST00000394299.6:c.955G>A ENSP00000377836.2:p.Val319Ile
ENST00000394299.7:c.955G>A ENSP00000377836.2:p.Val319Ile
ENST00000406757.2:c.144G>A
ENST00000406757.3:c.144G>A
ENST00000631057.2:c.793G>A ENSP00000486325.1:p.Val265Ile
ENST00000666673.1:n.149G>A
ENST00000684880.1:c.*543G>A ENSP00000510280.1:n.*543G>A
ENST00000689310.1:c.907G>A ENSP00000510438.1:p.Val303Ile
ENST00000692084.1:c.149G>A
XM_017029413.2:c.955G>A XP_016884902.1:p.Val319Ile