Canonical Allele Identifier: CA8409989

Gene: PIGL

Linked Data

• dbSNP Id: rs749470498
• ExAC: 17:16221128 G / T
• gnomAD v2: 17-16221128-G-T
• gnomAD v3: 17-16317814-G-T
• gnomAD v4: 17-16317814-G-T
• MyVariant Identifiers: chr17:g.16221128G>T (hg19) ; chr17:g.16317814G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317814G>T , CM000679.2:g.16317814G>T	GRCh38
NC_000017.10:g.16221128G>T , CM000679.1:g.16221128G>T	GRCh37
NC_000017.9:g.16161853G>T	NCBI36
NG_032651.1:g.105620G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.566G>T MANE Select	ENSP00000225609.5:p.Arg189Leu
ENST00000225609.9:c.566G>T	ENSP00000225609.5:p.Arg189Leu
ENST00000395844.8:c.534G>T	ENSP00000379185.3:p.Ala178=
ENST00000477745.5:n.564G>T
ENST00000488375.2:n.424G>T
ENST00000580201.1:n.546G>T
ENST00000581006.5:c.426+17836G>T	ENSP00000462432.1:n.426+17836G>T
ENST00000596678.2:c.108G>T	ENSP00000470064.2:p.Ala36=
ENST00000613719.1:n.987+126G>T
NM_004278.3:c.566G>T	NP_004269.1:p.Arg189Leu
XR_243571.2:n.1564G>T
XR_429826.2:n.1011G>T
XM_017025349.1:c.*730G>T	XP_016880838.1:n.*730G>T
XM_017025350.1:c.*730G>T	XP_016880839.1:n.*730G>T
XM_017025351.1:c.*177G>T	XP_016880840.1:n.*177G>T
XM_017025352.1:c.566G>T	XP_016880841.1:p.Arg189Leu
XM_017025353.1:c.566G>T	XP_016880842.1:p.Arg189Leu
XM_017025354.1:c.534G>T	XP_016880843.1:p.Ala178=
XM_017025355.1:c.534G>T	XP_016880844.1:p.Ala178=
XM_017025356.1:c.*1043G>T	XP_016880845.1:n.*1043G>T
NM_004278.4:c.566G>T MANE Select	NP_004269.1:p.Arg189Leu