Canonical Allele Identifier: CA414706072

Gene: GPC3

Linked Data

• ClinVar Variation Id: 2709355
• ClinVar RCV Id: RCV003501284
• MyVariant Identifiers: chrX:g.132887850G>C (hg19) ; chrX:g.133753823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753823G>C , CM000685.2:g.133753823G>C	GRCh38
NC_000023.10:g.132887850G>C , CM000685.1:g.132887850G>C	GRCh37
NC_000023.9:g.132715516G>C	NCBI36
NG_009286.1:g.236817C>G , LRG_505:g.236817C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684880.1:c.*279C>G	ENSP00000510280.1:n.*279C>G
ENST00000689310.1:c.643C>G	ENSP00000510438.1:p.Gln215Glu
ENST00000370818.8:c.691C>G MANE Select	ENSP00000359854.3:p.Gln231Glu
ENST00000394299.7:c.691C>G	ENSP00000377836.2:p.Gln231Glu
ENST00000370818.7:c.691C>G	ENSP00000359854.3:p.Gln231Glu
ENST00000394299.6:c.691C>G	ENSP00000377836.2:p.Gln231Glu
ENST00000631057.2:c.529C>G	ENSP00000486325.1:p.Gln177Glu
NM_001164617.1:c.691C>G	NP_001158089.1:p.Gln231Glu
NM_001164618.1:c.643C>G	NP_001158090.1:p.Gln215Glu
NM_001164619.1:c.529C>G	NP_001158091.1:p.Gln177Glu
NM_004484.3:c.691C>G , LRG_505t1:c.691C>G	NP_004475.1:p.Gln231Glu
XM_017029413.2:c.691C>G	XP_016884902.1:p.Gln231Glu
NM_001164617.2:c.691C>G	NP_001158089.1:p.Gln231Glu
NM_001164618.2:c.643C>G	NP_001158090.1:p.Gln215Glu
NM_001164619.2:c.529C>G	NP_001158091.1:p.Gln177Glu
NM_004484.4:c.691C>G MANE Select	NP_004475.1:p.Gln231Glu