Canonical Allele Identifier: CA518852443

Gene: GPC3

Linked Data

• ClinVar Variation Id: 1100489
• ClinVar RCV Id: RCV001423119
• dbSNP Id: rs372222280
• gnomAD v4: X-133753556-G-A
• MyVariant Identifiers: chrX:g.132887583G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753556G>A , CM000685.2:g.133753556G>A	GRCh38
NC_000023.10:g.132887583G>A , CM000685.1:g.132887583G>A	GRCh37
NC_000023.9:g.132715249G>A	NCBI36
NG_009286.1:g.237084C>T , LRG_505:g.237084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.147C>T
ENST00000684880.1:c.*546C>T	ENSP00000510280.1:n.*546C>T
ENST00000689310.1:c.910C>T	ENSP00000510438.1:p.Leu304=
ENST00000692084.1:c.152C>T
ENST00000370818.8:c.958C>T MANE Select	ENSP00000359854.3:p.Leu320=
ENST00000394299.7:c.958C>T	ENSP00000377836.2:p.Leu320=
ENST00000666673.1:n.152C>T
ENST00000370818.7:c.958C>T	ENSP00000359854.3:p.Leu320=
ENST00000394299.6:c.958C>T	ENSP00000377836.2:p.Leu320=
ENST00000406757.2:c.147C>T
ENST00000631057.2:c.796C>T	ENSP00000486325.1:p.Leu266=
NM_001164617.1:c.958C>T	NP_001158089.1:p.Leu320=
NM_001164618.1:c.910C>T	NP_001158090.1:p.Leu304=
NM_001164619.1:c.796C>T	NP_001158091.1:p.Leu266=
NM_004484.3:c.958C>T , LRG_505t1:c.958C>T	NP_004475.1:p.Leu320=
XM_017029413.2:c.958C>T	XP_016884902.1:p.Leu320=
NM_001164617.2:c.958C>T	NP_001158089.1:p.Leu320=
NM_001164618.2:c.910C>T	NP_001158090.1:p.Leu304=
NM_001164619.2:c.796C>T	NP_001158091.1:p.Leu266=
NM_004484.4:c.958C>T MANE Select	NP_004475.1:p.Leu320=