Canonical Allele Identifier: CA414706476

Gene: GPC3

Linked Data

• ClinVar Variation Id: 861597
• ClinVar RCV Id: RCV001068158
• dbSNP Id: rs2071700502
• MyVariant Identifiers: chrX:g.132888036C>T (hg19) ; chrX:g.133754009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133754009C>T , CM000685.2:g.133754009C>T	GRCh38
NC_000023.10:g.132888036C>T , CM000685.1:g.132888036C>T	GRCh37
NC_000023.9:g.132715702C>T	NCBI36
NG_009286.1:g.236631G>A , LRG_505:g.236631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*93G>A	ENSP00000510280.1:n.*93G>A
ENST00000689310.1:c.457G>A	ENSP00000510438.1:p.Glu153Lys
ENST00000370818.8:c.505G>A MANE Select	ENSP00000359854.3:p.Glu169Lys
ENST00000394299.7:c.505G>A	ENSP00000377836.2:p.Glu169Lys
ENST00000370818.7:c.505G>A	ENSP00000359854.3:p.Glu169Lys
ENST00000394299.6:c.505G>A	ENSP00000377836.2:p.Glu169Lys
ENST00000631057.2:c.343G>A	ENSP00000486325.1:p.Glu115Lys
NM_001164617.1:c.505G>A	NP_001158089.1:p.Glu169Lys
NM_001164618.1:c.457G>A	NP_001158090.1:p.Glu153Lys
NM_001164619.1:c.343G>A	NP_001158091.1:p.Glu115Lys
NM_004484.3:c.505G>A , LRG_505t1:c.505G>A	NP_004475.1:p.Glu169Lys
XM_017029413.2:c.505G>A	XP_016884902.1:p.Glu169Lys
NM_001164617.2:c.505G>A	NP_001158089.1:p.Glu169Lys
NM_001164618.2:c.457G>A	NP_001158090.1:p.Glu153Lys
NM_001164619.2:c.343G>A	NP_001158091.1:p.Glu115Lys
NM_004484.4:c.505G>A MANE Select	NP_004475.1:p.Glu169Lys