Canonical Allele Identifier: CA10520791

Gene: GPC3

Linked Data

• ClinVar Variation Id: 476669
• ClinVar RCV Id: RCV000525913 ; RCV001568273
• dbSNP Id: rs151082475
• ExAC: X:132887697 T / C
• gnomAD v2: X-132887697-T-C
• gnomAD v3: X-133753670-T-C
• gnomAD v4: X-133753670-T-C
• MyVariant Identifiers: chrX:g.132887697T>C (hg19) ; chrX:g.133753670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753670T>C , CM000685.2:g.133753670T>C	GRCh38
NC_000023.10:g.132887697T>C , CM000685.1:g.132887697T>C	GRCh37
NC_000023.9:g.132715363T>C	NCBI36
NG_009286.1:g.236970A>G , LRG_505:g.236970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.33A>G
ENST00000684880.1:c.*432A>G	ENSP00000510280.1:n.*432A>G
ENST00000689310.1:c.796A>G	ENSP00000510438.1:p.Met266Val
ENST00000692084.1:c.38A>G
ENST00000370818.8:c.844A>G MANE Select	ENSP00000359854.3:p.Met282Val
ENST00000394299.7:c.844A>G	ENSP00000377836.2:p.Met282Val
ENST00000666673.1:n.38A>G
ENST00000370818.7:c.844A>G	ENSP00000359854.3:p.Met282Val
ENST00000394299.6:c.844A>G	ENSP00000377836.2:p.Met282Val
ENST00000406757.2:c.33A>G
ENST00000631057.2:c.682A>G	ENSP00000486325.1:p.Met228Val
NM_001164617.1:c.844A>G	NP_001158089.1:p.Met282Val
NM_001164618.1:c.796A>G	NP_001158090.1:p.Met266Val
NM_001164619.1:c.682A>G	NP_001158091.1:p.Met228Val
NM_004484.3:c.844A>G , LRG_505t1:c.844A>G	NP_004475.1:p.Met282Val
XM_017029413.2:c.844A>G	XP_016884902.1:p.Met282Val
NM_001164617.2:c.844A>G	NP_001158089.1:p.Met282Val
NM_001164618.2:c.796A>G	NP_001158090.1:p.Met266Val
NM_001164619.2:c.682A>G	NP_001158091.1:p.Met228Val
NM_004484.4:c.844A>G MANE Select	NP_004475.1:p.Met282Val