Canonical Allele Identifier: CA173181
Gene: PIGL HGNC NCBI

Linked Data

ClinVar Variation Id: 159718
ClinVar RCV Id: RCV000147272
dbSNP Id: rs139004722

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317900C>G , CM000679.2:g.16317900C>G GRCh38
NC_000017.10:g.16221214C>G , CM000679.1:g.16221214C>G GRCh37
NC_000017.9:g.16161939C>G NCBI36
NG_032651.1:g.105706C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225609.10:c.652C>G MANE Select ENSP00000225609.5:p.Gln218Glu
ENST00000225609.9:c.652C>G ENSP00000225609.5:p.Gln218Glu
ENST00000395844.8:c.620C>G ENSP00000379185.3:p.Thr207Arg
ENST00000477745.5:n.650C>G
ENST00000488375.2:n.510C>G
ENST00000581006.5:c.426+17922C>G ENSP00000462432.1:n.426+17922C>G
ENST00000596678.2:c.194C>G ENSP00000470064.2:p.Thr65Arg
ENST00000613719.1:n.987+212C>G
NM_004278.3:c.652C>G NP_004269.1:p.Gln218Glu
XR_243571.2:n.1650C>G
XM_017025349.1:c.*816C>G XP_016880838.1:n.*816C>G
XM_017025350.1:c.*816C>G XP_016880839.1:n.*816C>G
XM_017025352.1:c.652C>G XP_016880841.1:p.Gln218Glu
XM_017025353.1:c.652C>G XP_016880842.1:p.Gln218Glu
XM_017025354.1:c.620C>G XP_016880843.1:p.Thr207Arg
XM_017025355.1:c.620C>G XP_016880844.1:p.Thr207Arg
XM_017025356.1:c.*1129C>G XP_016880845.1:n.*1129C>G
NM_004278.4:c.652C>G MANE Select NP_004269.1:p.Gln218Glu