Canonical Allele Identifier: CA159992

Gene: GPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133596587T>A , CM000685.2:g.133596587T>A	GRCh38
NC_000023.10:g.132730615T>A , CM000685.1:g.132730615T>A	GRCh37
NC_000023.9:g.132558281T>A	NCBI36
NG_009286.1:g.394052A>T , LRG_505:g.394052A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004484.4:c.1426A>T MANE Select	NP_004475.1:p.Met476Leu
ENST00000370818.8:c.1426A>T MANE Select	ENSP00000359854.3:p.Met476Leu
NM_001164617.1:c.1495A>T	NP_001158089.1:p.Met499Leu
NM_001164617.2:c.1495A>T	NP_001158089.1:p.Met499Leu
NM_001164618.1:c.1378A>T	NP_001158090.1:p.Met460Leu
NM_001164618.2:c.1378A>T	NP_001158090.1:p.Met460Leu
NM_001164619.1:c.1264A>T	NP_001158091.1:p.Met422Leu
NM_001164619.2:c.1264A>T	NP_001158091.1:p.Met422Leu
NM_004484.3:c.1426A>T , LRG_505t1:c.1426A>T	NP_004475.1:p.Met476Leu
ENST00000370818.7:c.1426A>T	ENSP00000359854.3:p.Met476Leu
ENST00000394299.6:c.1495A>T	ENSP00000377836.2:p.Met499Leu
ENST00000394299.7:c.1495A>T	ENSP00000377836.2:p.Met499Leu
ENST00000406757.2:c.615A>T
ENST00000406757.3:c.615A>T
ENST00000631057.2:c.1264A>T	ENSP00000486325.1:p.Met422Leu
ENST00000666017.1:n.304A>T
ENST00000666673.1:n.713A>T
ENST00000666673.2:n.457A>T
ENST00000667662.1:n.493A>T
ENST00000669691.1:n.492A>T
ENST00000689310.1:c.1378A>T	ENSP00000510438.1:p.Met460Leu
ENST00000692074.1:n.370A>T
ENST00000692084.1:c.713A>T