Canonical Allele Identifier: CA16616423

Gene: GPC3

Linked Data

• ClinVar Variation Id: 408896
• ClinVar RCV Id: RCV000457346
• dbSNP Id: rs1060502173
• MyVariant Identifiers: chrX:g.132670157G>A (hg19) ; chrX:g.133536129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133536129G>A , CM000685.2:g.133536129G>A	GRCh38
NC_000023.10:g.132670157G>A , CM000685.1:g.132670157G>A	GRCh37
NC_000023.9:g.132497823G>A	NCBI36
NG_009286.1:g.454510C>T , LRG_505:g.454510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.927C>T
ENST00000689310.1:c.1690C>T	ENSP00000510438.1:p.His564Tyr
ENST00000692084.1:c.1025C>T
ENST00000370818.8:c.1738C>T MANE Select	ENSP00000359854.3:p.His580Tyr
ENST00000394299.7:c.1807C>T	ENSP00000377836.2:p.His603Tyr
ENST00000669691.1:n.804C>T
ENST00000370818.7:c.1738C>T	ENSP00000359854.3:p.His580Tyr
ENST00000394299.6:c.1807C>T	ENSP00000377836.2:p.His603Tyr
ENST00000631057.2:c.1576C>T	ENSP00000486325.1:p.His526Tyr
NM_001164617.1:c.1807C>T	NP_001158089.1:p.His603Tyr
NM_001164618.1:c.1690C>T	NP_001158090.1:p.His564Tyr
NM_001164619.1:c.1576C>T	NP_001158091.1:p.His526Tyr
NM_004484.3:c.1738C>T , LRG_505t1:c.1738C>T	NP_004475.1:p.His580Tyr
NM_001164617.2:c.1807C>T	NP_001158089.1:p.His603Tyr
NM_001164618.2:c.1690C>T	NP_001158090.1:p.His564Tyr
NM_001164619.2:c.1576C>T	NP_001158091.1:p.His526Tyr
NM_004484.4:c.1738C>T MANE Select	NP_004475.1:p.His580Tyr