Canonical Allele Identifier: CA8409913

Gene: PIGL

Linked Data

• dbSNP Id: rs767526938
• ExAC: 17:16216882 G / A
• gnomAD v4: 17-16313568-G-A
• MyVariant Identifiers: chr17:g.16216882G>A (hg19) ; chr17:g.16313568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313568G>A , CM000679.2:g.16313568G>A	GRCh38
NC_000017.10:g.16216882G>A , CM000679.1:g.16216882G>A	GRCh37
NC_000017.9:g.16157607G>A	NCBI36
NG_032651.1:g.101374G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.448G>A MANE Select	ENSP00000225609.5:p.Gly150Arg
ENST00000225609.9:c.448G>A	ENSP00000225609.5:p.Gly150Arg
ENST00000395844.8:c.448G>A	ENSP00000379185.3:p.Gly150Arg
ENST00000477745.5:n.446G>A
ENST00000498772.6:n.465G>A
ENST00000580201.1:n.460G>A
ENST00000581006.5:c.426+13590G>A	ENSP00000462432.1:n.426+13590G>A
ENST00000584797.5:c.448G>A	ENSP00000463540.1:p.Gly150Arg
ENST00000585034.5:c.*42G>A	ENSP00000464424.1:n.*42G>A
ENST00000596678.2:c.22G>A	ENSP00000470064.2:p.Gly8Arg
NM_004278.3:c.448G>A	NP_004269.1:p.Gly150Arg
XM_011524080.1:c.448G>A	XP_011522382.1:p.Gly150Arg
XR_243571.2:n.466G>A
XR_429826.2:n.466G>A
XM_011524080.2:c.448G>A	XP_011522382.1:p.Gly150Arg
XM_017025349.1:c.448G>A	XP_016880838.1:p.Gly150Arg
XM_017025350.1:c.448G>A	XP_016880839.1:p.Gly150Arg
XM_017025351.1:c.448G>A	XP_016880840.1:p.Gly150Arg
XM_017025352.1:c.448G>A	XP_016880841.1:p.Gly150Arg
XM_017025353.1:c.448G>A	XP_016880842.1:p.Gly150Arg
XM_017025354.1:c.448G>A	XP_016880843.1:p.Gly150Arg
XM_017025355.1:c.448G>A	XP_016880844.1:p.Gly150Arg
XM_017025356.1:c.448G>A	XP_016880845.1:p.Gly150Arg
NM_004278.4:c.448G>A MANE Select	NP_004269.1:p.Gly150Arg