Canonical Allele Identifier: CA10520884

Gene: GPC3

Linked Data

• ClinVar Variation Id: 543106
• ClinVar RCV Id: RCV000653767 ; RCV001731847 ; RCV001702829 ; RCV002397315 ; RCV003928141
• dbSNP Id: rs188592483
• ExAC: X:133119309 G / C
• gnomAD v2: X-133119309-G-C
• gnomAD v3: X-133985282-G-C
• gnomAD v4: X-133985282-G-C
• MyVariant Identifiers: chrX:g.133119309G>C (hg19) ; chrX:g.133985282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133985282G>C , CM000685.2:g.133985282G>C	GRCh38
NC_000023.10:g.133119309G>C , CM000685.1:g.133119309G>C	GRCh37
NC_000023.9:g.132946975G>C	NCBI36
NG_009286.1:g.5358C>G , LRG_505:g.5358C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.168C>G	ENSP00000510280.1:p.Pro56=
ENST00000689310.1:c.168C>G	ENSP00000510438.1:p.Pro56=
ENST00000692630.1:n.298C>G
ENST00000370818.8:c.168C>G MANE Select	ENSP00000359854.3:p.Pro56=
ENST00000394299.7:c.168C>G	ENSP00000377836.2:p.Pro56=
ENST00000370818.7:c.168C>G	ENSP00000359854.3:p.Pro56=
ENST00000394299.6:c.168C>G	ENSP00000377836.2:p.Pro56=
ENST00000631057.2:c.168C>G	ENSP00000486325.1:p.Pro56=
NM_001164617.1:c.168C>G	NP_001158089.1:p.Pro56=
NM_001164618.1:c.168C>G	NP_001158090.1:p.Pro56=
NM_001164619.1:c.168C>G	NP_001158091.1:p.Pro56=
NM_004484.3:c.168C>G , LRG_505t1:c.168C>G	NP_004475.1:p.Pro56=
XM_017029413.2:c.168C>G	XP_016884902.1:p.Pro56=
NM_001164617.2:c.168C>G	NP_001158089.1:p.Pro56=
NM_001164618.2:c.168C>G	NP_001158090.1:p.Pro56=
NM_001164619.2:c.168C>G	NP_001158091.1:p.Pro56=
NM_004484.4:c.168C>G MANE Select	NP_004475.1:p.Pro56=