Canonical Allele Identifier: CA414706846

Gene: GPC3

Linked Data

• gnomAD v4: X-133754171-A-C
• MyVariant Identifiers: chrX:g.132888198A>C (hg19) ; chrX:g.133754171A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133754171A>C , CM000685.2:g.133754171A>C	GRCh38
NC_000023.10:g.132888198A>C , CM000685.1:g.132888198A>C	GRCh37
NC_000023.9:g.132715864A>C	NCBI36
NG_009286.1:g.236469T>G , LRG_505:g.236469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.414T>G	ENSP00000510280.1:p.Pro138=
ENST00000689310.1:c.295T>G	ENSP00000510438.1:p.Phe99Val
ENST00000692630.1:n.473T>G
ENST00000370818.8:c.343T>G MANE Select	ENSP00000359854.3:p.Phe115Val
ENST00000394299.7:c.343T>G	ENSP00000377836.2:p.Phe115Val
ENST00000370818.7:c.343T>G	ENSP00000359854.3:p.Phe115Val
ENST00000394299.6:c.343T>G	ENSP00000377836.2:p.Phe115Val
ENST00000631057.2:c.181T>G	ENSP00000486325.1:p.Phe61Val
NM_001164617.1:c.343T>G	NP_001158089.1:p.Phe115Val
NM_001164618.1:c.295T>G	NP_001158090.1:p.Phe99Val
NM_001164619.1:c.181T>G	NP_001158091.1:p.Phe61Val
NM_004484.3:c.343T>G , LRG_505t1:c.343T>G	NP_004475.1:p.Phe115Val
XM_017029413.2:c.343T>G	XP_016884902.1:p.Phe115Val
NM_001164617.2:c.343T>G	NP_001158089.1:p.Phe115Val
NM_001164618.2:c.295T>G	NP_001158090.1:p.Phe99Val
NM_001164619.2:c.181T>G	NP_001158091.1:p.Phe61Val
NM_004484.4:c.343T>G MANE Select	NP_004475.1:p.Phe115Val