Canonical Allele Identifier: CA2250000649
Gene: PIGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317823T= , CM000679.2:g.16317823T= GRCh38
NC_000017.10:g.16221137T= , CM000679.1:g.16221137T= GRCh37
NC_000017.9:g.16161862T= NCBI36
NG_032651.1:g.105629T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.575T= MANE Select ENSP00000225609.5:p.Ile192=
ENST00000225609.9:c.575T= ENSP00000225609.5:p.Ile192=
ENST00000395844.8:c.543T= ENSP00000379185.3:p.His181=
ENST00000477745.5:n.573T=
ENST00000488375.2:n.433T=
ENST00000581006.5:c.426+17845T= ENSP00000462432.1:n.426+17845T=
ENST00000596678.2:c.117T= ENSP00000470064.2:p.His39=
ENST00000613719.1:n.987+135T=
NM_004278.3:c.575T= NP_004269.1:p.Ile192=
XR_243571.2:n.1573T=
XR_429826.2:n.1020T=
XM_017025349.1:c.*739T= XP_016880838.1:n.*739T=
XM_017025350.1:c.*739T= XP_016880839.1:n.*739T=
XM_017025351.1:c.*186T= XP_016880840.1:n.*186T=
XM_017025352.1:c.575T= XP_016880841.1:p.Ile192=
XM_017025353.1:c.575T= XP_016880842.1:p.Ile192=
XM_017025354.1:c.543T= XP_016880843.1:p.His181=
XM_017025355.1:c.543T= XP_016880844.1:p.His181=
XM_017025356.1:c.*1052T= XP_016880845.1:n.*1052T=
NM_004278.4:c.575T= MANE Select NP_004269.1:p.Ile192=