Canonical Allele Identifier: CA398480261

Gene: PIGL

Linked Data

• gnomAD v4: 17-16317812-G-A
• MyVariant Identifiers: chr17:g.16221126G>A (hg19) ; chr17:g.16317812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317812G>A , CM000679.2:g.16317812G>A	GRCh38
NC_000017.10:g.16221126G>A , CM000679.1:g.16221126G>A	GRCh37
NC_000017.9:g.16161851G>A	NCBI36
NG_032651.1:g.105618G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.564G>A MANE Select	ENSP00000225609.5:p.Leu188=
ENST00000225609.9:c.564G>A	ENSP00000225609.5:p.Leu188=
ENST00000395844.8:c.532G>A	ENSP00000379185.3:p.Ala178Thr
ENST00000477745.5:n.562G>A
ENST00000488375.2:n.422G>A
ENST00000580201.1:n.544G>A
ENST00000581006.5:c.426+17834G>A	ENSP00000462432.1:n.426+17834G>A
ENST00000596678.2:c.106G>A	ENSP00000470064.2:p.Ala36Thr
ENST00000613719.1:n.987+124G>A
NM_004278.3:c.564G>A	NP_004269.1:p.Leu188=
XR_243571.2:n.1562G>A
XR_429826.2:n.1009G>A
XM_017025349.1:c.*728G>A	XP_016880838.1:n.*728G>A
XM_017025350.1:c.*728G>A	XP_016880839.1:n.*728G>A
XM_017025351.1:c.*175G>A	XP_016880840.1:n.*175G>A
XM_017025352.1:c.564G>A	XP_016880841.1:p.Leu188=
XM_017025353.1:c.564G>A	XP_016880842.1:p.Leu188=
XM_017025354.1:c.532G>A	XP_016880843.1:p.Ala178Thr
XM_017025355.1:c.532G>A	XP_016880844.1:p.Ala178Thr
XM_017025356.1:c.*1041G>A	XP_016880845.1:n.*1041G>A
NM_004278.4:c.564G>A MANE Select	NP_004269.1:p.Leu188=