Canonical Allele Identifier: CA10520725

Gene: GPC3

Linked Data

• ClinVar Variation Id: 701714
• ClinVar RCV Id: RCV000870350
• dbSNP Id: rs147245792
• ExAC: X:132833940 G / A
• gnomAD v2: X-132833940-G-A
• gnomAD v3: X-133699912-G-A
• gnomAD v4: X-133699912-G-A
• MyVariant Identifiers: chrX:g.132833940G>A (hg19) ; chrX:g.133699912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133699912G>A , CM000685.2:g.133699912G>A	GRCh38
NC_000023.10:g.132833940G>A , CM000685.1:g.132833940G>A	GRCh37
NC_000023.9:g.132661606G>A	NCBI36
NG_009286.1:g.290727C>T , LRG_505:g.290727C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000406757.3:c.338C>T
ENST00000666673.2:n.180C>T
ENST00000684880.1:c.*737C>T	ENSP00000510280.1:n.*737C>T
ENST00000689310.1:c.1101C>T	ENSP00000510438.1:p.Thr367=
ENST00000692084.1:c.436C>T
ENST00000370818.8:c.1149C>T MANE Select	ENSP00000359854.3:p.Thr383=
ENST00000394299.7:c.1218C>T	ENSP00000377836.2:p.Thr406=
ENST00000666673.1:n.436C>T
ENST00000667662.1:n.216C>T
ENST00000669691.1:n.195C>T
ENST00000370818.7:c.1149C>T	ENSP00000359854.3:p.Thr383=
ENST00000394299.6:c.1218C>T	ENSP00000377836.2:p.Thr406=
ENST00000406757.2:c.338C>T
ENST00000631057.2:c.987C>T	ENSP00000486325.1:p.Thr329=
NM_001164617.1:c.1218C>T	NP_001158089.1:p.Thr406=
NM_001164618.1:c.1101C>T	NP_001158090.1:p.Thr367=
NM_001164619.1:c.987C>T	NP_001158091.1:p.Thr329=
NM_004484.3:c.1149C>T , LRG_505t1:c.1149C>T	NP_004475.1:p.Thr383=
XM_017029413.2:c.1149C>T	XP_016884902.1:p.Thr383=
NM_001164617.2:c.1218C>T	NP_001158089.1:p.Thr406=
NM_001164618.2:c.1101C>T	NP_001158090.1:p.Thr367=
NM_001164619.2:c.987C>T	NP_001158091.1:p.Thr329=
NM_004484.4:c.1149C>T MANE Select	NP_004475.1:p.Thr383=