Canonical Allele Identifier: CA10520772

Gene: GPC3

Linked Data

• dbSNP Id: rs375961295
• ExAC: X:132887594 A / T
• gnomAD v2: X-132887594-A-T
• MyVariant Identifiers: chrX:g.132887594A>T (hg19) ; chrX:g.133753567A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753567A>T , CM000685.2:g.133753567A>T	GRCh38
NC_000023.10:g.132887594A>T , CM000685.1:g.132887594A>T	GRCh37
NC_000023.9:g.132715260A>T	NCBI36
NG_009286.1:g.237073T>A , LRG_505:g.237073T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.136T>A
ENST00000684880.1:c.*535T>A	ENSP00000510280.1:n.*535T>A
ENST00000689310.1:c.899T>A	ENSP00000510438.1:p.Met300Lys
ENST00000692084.1:c.141T>A
ENST00000370818.8:c.947T>A MANE Select	ENSP00000359854.3:p.Met316Lys
ENST00000394299.7:c.947T>A	ENSP00000377836.2:p.Met316Lys
ENST00000666673.1:n.141T>A
ENST00000370818.7:c.947T>A	ENSP00000359854.3:p.Met316Lys
ENST00000394299.6:c.947T>A	ENSP00000377836.2:p.Met316Lys
ENST00000406757.2:c.136T>A
ENST00000631057.2:c.785T>A	ENSP00000486325.1:p.Met262Lys
NM_001164617.1:c.947T>A	NP_001158089.1:p.Met316Lys
NM_001164618.1:c.899T>A	NP_001158090.1:p.Met300Lys
NM_001164619.1:c.785T>A	NP_001158091.1:p.Met262Lys
NM_004484.3:c.947T>A , LRG_505t1:c.947T>A	NP_004475.1:p.Met316Lys
XM_017029413.2:c.947T>A	XP_016884902.1:p.Met316Lys
NM_001164617.2:c.947T>A	NP_001158089.1:p.Met316Lys
NM_001164618.2:c.899T>A	NP_001158090.1:p.Met300Lys
NM_001164619.2:c.785T>A	NP_001158091.1:p.Met262Lys
NM_004484.4:c.947T>A MANE Select	NP_004475.1:p.Met316Lys