Canonical Allele Identifier: CA414706062

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1699090
• ClinVar RCV Id: RCV002272947
• dbSNP Id: rs1206002281
• MyVariant Identifiers: chrX:g.132887846G>T (hg19) ; chrX:g.133753819G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753819G>T , CM000685.2:g.133753819G>T	GRCh38
NC_000023.10:g.132887846G>T , CM000685.1:g.132887846G>T	GRCh37
NC_000023.9:g.132715512G>T	NCBI36
NG_009286.1:g.236821C>A , LRG_505:g.236821C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684880.1:c.*283C>A	ENSP00000510280.1:n.*283C>A
ENST00000689310.1:c.647C>A	ENSP00000510438.1:p.Ala216Asp
ENST00000370818.8:c.695C>A MANE Select	ENSP00000359854.3:p.Ala232Asp
ENST00000394299.7:c.695C>A	ENSP00000377836.2:p.Ala232Asp
ENST00000370818.7:c.695C>A	ENSP00000359854.3:p.Ala232Asp
ENST00000394299.6:c.695C>A	ENSP00000377836.2:p.Ala232Asp
ENST00000631057.2:c.533C>A	ENSP00000486325.1:p.Ala178Asp
NM_001164617.1:c.695C>A	NP_001158089.1:p.Ala232Asp
NM_001164618.1:c.647C>A	NP_001158090.1:p.Ala216Asp
NM_001164619.1:c.533C>A	NP_001158091.1:p.Ala178Asp
NM_004484.3:c.695C>A , LRG_505t1:c.695C>A	NP_004475.1:p.Ala232Asp
XM_017029413.2:c.695C>A	XP_016884902.1:p.Ala232Asp
NM_001164617.2:c.695C>A	NP_001158089.1:p.Ala232Asp
NM_001164618.2:c.647C>A	NP_001158090.1:p.Ala216Asp
NM_001164619.2:c.533C>A	NP_001158091.1:p.Ala178Asp
NM_004484.4:c.695C>A MANE Select	NP_004475.1:p.Ala232Asp