Canonical Allele Identifier: CA414705833

Gene: GPC3

Linked Data

• ClinVar Variation Id: 2971581
• ClinVar RCV Id: RCV003832643
• MyVariant Identifiers: chrX:g.132887751A>T (hg19) ; chrX:g.133753724A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753724A>T , CM000685.2:g.133753724A>T	GRCh38
NC_000023.10:g.132887751A>T , CM000685.1:g.132887751A>T	GRCh37
NC_000023.9:g.132715417A>T	NCBI36
NG_009286.1:g.236916T>A , LRG_505:g.236916T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684880.1:c.*378T>A	ENSP00000510280.1:n.*378T>A
ENST00000689310.1:c.742T>A	ENSP00000510438.1:p.Tyr248Asn
ENST00000370818.8:c.790T>A MANE Select	ENSP00000359854.3:p.Tyr264Asn
ENST00000394299.7:c.790T>A	ENSP00000377836.2:p.Tyr264Asn
ENST00000370818.7:c.790T>A	ENSP00000359854.3:p.Tyr264Asn
ENST00000394299.6:c.790T>A	ENSP00000377836.2:p.Tyr264Asn
ENST00000631057.2:c.628T>A	ENSP00000486325.1:p.Tyr210Asn
NM_001164617.1:c.790T>A	NP_001158089.1:p.Tyr264Asn
NM_001164618.1:c.742T>A	NP_001158090.1:p.Tyr248Asn
NM_001164619.1:c.628T>A	NP_001158091.1:p.Tyr210Asn
NM_004484.3:c.790T>A , LRG_505t1:c.790T>A	NP_004475.1:p.Tyr264Asn
XM_017029413.2:c.790T>A	XP_016884902.1:p.Tyr264Asn
NM_001164617.2:c.790T>A	NP_001158089.1:p.Tyr264Asn
NM_001164618.2:c.742T>A	NP_001158090.1:p.Tyr248Asn
NM_001164619.2:c.628T>A	NP_001158091.1:p.Tyr210Asn
NM_004484.4:c.790T>A MANE Select	NP_004475.1:p.Tyr264Asn