Canonical Allele Identifier: CA2250000818
Gene: PIGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317905C= , CM000679.2:g.16317905C= GRCh38
NC_000017.10:g.16221219C= , CM000679.1:g.16221219C= GRCh37
NC_000017.9:g.16161944C= NCBI36
NG_032651.1:g.105711C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.657C= MANE Select ENSP00000225609.5:p.Ala219=
ENST00000225609.9:c.657C= ENSP00000225609.5:p.Ala219=
ENST00000395844.8:c.625C= ENSP00000379185.3:p.Gln209=
ENST00000477745.5:n.655C=
ENST00000488375.2:n.515C=
ENST00000581006.5:c.426+17927C= ENSP00000462432.1:n.426+17927C=
ENST00000596678.2:c.199C= ENSP00000470064.2:p.Gln67=
ENST00000613719.1:n.987+217C=
NM_004278.3:c.657C= NP_004269.1:p.Ala219=
XR_243571.2:n.1655C=
XM_017025349.1:c.*821C= XP_016880838.1:n.*821C=
XM_017025350.1:c.*821C= XP_016880839.1:n.*821C=
XM_017025352.1:c.657C= XP_016880841.1:p.Ala219=
XM_017025353.1:c.657C= XP_016880842.1:p.Ala219=
XM_017025354.1:c.625C= XP_016880843.1:p.Gln209=
XM_017025355.1:c.625C= XP_016880844.1:p.Gln209=
XM_017025356.1:c.*1134C= XP_016880845.1:n.*1134C=
NM_004278.4:c.657C= MANE Select NP_004269.1:p.Ala219=