Canonical Allele Identifier: CA518852806

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1609994
• ClinVar RCV Id: RCV002152842
• dbSNP Id: rs2124480140
• MyVariant Identifiers: chrX:g.132887749G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753722G>A , CM000685.2:g.133753722G>A	GRCh38
NC_000023.10:g.132887749G>A , CM000685.1:g.132887749G>A	GRCh37
NC_000023.9:g.132715415G>A	NCBI36
NG_009286.1:g.236918C>T , LRG_505:g.236918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*380C>T	ENSP00000510280.1:n.*380C>T
ENST00000689310.1:c.744C>T	ENSP00000510438.1:p.Tyr248=
ENST00000370818.8:c.792C>T MANE Select	ENSP00000359854.3:p.Tyr264=
ENST00000394299.7:c.792C>T	ENSP00000377836.2:p.Tyr264=
ENST00000370818.7:c.792C>T	ENSP00000359854.3:p.Tyr264=
ENST00000394299.6:c.792C>T	ENSP00000377836.2:p.Tyr264=
ENST00000631057.2:c.630C>T	ENSP00000486325.1:p.Tyr210=
NM_001164617.1:c.792C>T	NP_001158089.1:p.Tyr264=
NM_001164618.1:c.744C>T	NP_001158090.1:p.Tyr248=
NM_001164619.1:c.630C>T	NP_001158091.1:p.Tyr210=
NM_004484.3:c.792C>T , LRG_505t1:c.792C>T	NP_004475.1:p.Tyr264=
XM_017029413.2:c.792C>T	XP_016884902.1:p.Tyr264=
NM_001164617.2:c.792C>T	NP_001158089.1:p.Tyr264=
NM_001164618.2:c.744C>T	NP_001158090.1:p.Tyr248=
NM_001164619.2:c.630C>T	NP_001158091.1:p.Tyr210=
NM_004484.4:c.792C>T MANE Select	NP_004475.1:p.Tyr264=