Canonical Allele Identifier: CA398480256

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221124C>G (hg19) ; chr17:g.16317810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317810C>G , CM000679.2:g.16317810C>G	GRCh38
NC_000017.10:g.16221124C>G , CM000679.1:g.16221124C>G	GRCh37
NC_000017.9:g.16161849C>G	NCBI36
NG_032651.1:g.105616C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.562C>G MANE Select	ENSP00000225609.5:p.Leu188Val
ENST00000225609.9:c.562C>G	ENSP00000225609.5:p.Leu188Val
ENST00000395844.8:c.530C>G	ENSP00000379185.3:p.Ala177Gly
ENST00000477745.5:n.560C>G
ENST00000488375.2:n.420C>G
ENST00000580201.1:n.542C>G
ENST00000581006.5:c.426+17832C>G	ENSP00000462432.1:n.426+17832C>G
ENST00000596678.2:c.104C>G	ENSP00000470064.2:p.Ala35Gly
ENST00000613719.1:n.987+122C>G
NM_004278.3:c.562C>G	NP_004269.1:p.Leu188Val
XR_243571.2:n.1560C>G
XR_429826.2:n.1007C>G
XM_017025349.1:c.*726C>G	XP_016880838.1:n.*726C>G
XM_017025350.1:c.*726C>G	XP_016880839.1:n.*726C>G
XM_017025351.1:c.*173C>G	XP_016880840.1:n.*173C>G
XM_017025352.1:c.562C>G	XP_016880841.1:p.Leu188Val
XM_017025353.1:c.562C>G	XP_016880842.1:p.Leu188Val
XM_017025354.1:c.530C>G	XP_016880843.1:p.Ala177Gly
XM_017025355.1:c.530C>G	XP_016880844.1:p.Ala177Gly
XM_017025356.1:c.*1039C>G	XP_016880845.1:n.*1039C>G
NM_004278.4:c.562C>G MANE Select	NP_004269.1:p.Leu188Val