Canonical Allele Identifier: CA2250000615
Gene: PIGL HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.562C= MANE Select ENSP00000225609.5:p.Leu188=
ENST00000225609.9:c.562C= ENSP00000225609.5:p.Leu188=
ENST00000395844.8:c.530C= ENSP00000379185.3:p.Ala177=
ENST00000477745.5:n.560C=
ENST00000488375.2:n.420C=
ENST00000580201.1:n.542C=
ENST00000581006.5:c.426+17832C= ENSP00000462432.1:n.426+17832C=
ENST00000596678.2:c.104C= ENSP00000470064.2:p.Ala35=
ENST00000613719.1:n.987+122C=
NM_004278.3:c.562C= NP_004269.1:p.Leu188=
XR_243571.2:n.1560C=
XR_429826.2:n.1007C=
XM_017025349.1:c.*726C= XP_016880838.1:n.*726C=
XM_017025350.1:c.*726C= XP_016880839.1:n.*726C=
XM_017025351.1:c.*173C= XP_016880840.1:n.*173C=
XM_017025352.1:c.562C= XP_016880841.1:p.Leu188=
XM_017025353.1:c.562C= XP_016880842.1:p.Leu188=
XM_017025354.1:c.530C= XP_016880843.1:p.Ala177=
XM_017025355.1:c.530C= XP_016880844.1:p.Ala177=
XM_017025356.1:c.*1039C= XP_016880845.1:n.*1039C=
NM_004278.4:c.562C= MANE Select NP_004269.1:p.Leu188=