Canonical Allele Identifier: CA414705309

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1034864
• ClinVar RCV Id: RCV001337648
• dbSNP Id: rs2071690519
• MyVariant Identifiers: chrX:g.132887634G>C (hg19) ; chrX:g.133753607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753607G>C , CM000685.2:g.133753607G>C	GRCh38
NC_000023.10:g.132887634G>C , CM000685.1:g.132887634G>C	GRCh37
NC_000023.9:g.132715300G>C	NCBI36
NG_009286.1:g.237033C>G , LRG_505:g.237033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.96C>G
ENST00000684880.1:c.*495C>G	ENSP00000510280.1:n.*495C>G
ENST00000689310.1:c.859C>G	ENSP00000510438.1:p.Leu287Val
ENST00000692084.1:c.101C>G
ENST00000370818.8:c.907C>G MANE Select	ENSP00000359854.3:p.Leu303Val
ENST00000394299.7:c.907C>G	ENSP00000377836.2:p.Leu303Val
ENST00000666673.1:n.101C>G
ENST00000370818.7:c.907C>G	ENSP00000359854.3:p.Leu303Val
ENST00000394299.6:c.907C>G	ENSP00000377836.2:p.Leu303Val
ENST00000406757.2:c.96C>G
ENST00000631057.2:c.745C>G	ENSP00000486325.1:p.Leu249Val
NM_001164617.1:c.907C>G	NP_001158089.1:p.Leu303Val
NM_001164618.1:c.859C>G	NP_001158090.1:p.Leu287Val
NM_001164619.1:c.745C>G	NP_001158091.1:p.Leu249Val
NM_004484.3:c.907C>G , LRG_505t1:c.907C>G	NP_004475.1:p.Leu303Val
XM_017029413.2:c.907C>G	XP_016884902.1:p.Leu303Val
NM_001164617.2:c.907C>G	NP_001158089.1:p.Leu303Val
NM_001164618.2:c.859C>G	NP_001158090.1:p.Leu287Val
NM_001164619.2:c.745C>G	NP_001158091.1:p.Leu249Val
NM_004484.4:c.907C>G MANE Select	NP_004475.1:p.Leu303Val