Canonical Allele Identifier: CA2250000748
Gene: PIGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317871T= , CM000679.2:g.16317871T= GRCh38
NC_000017.10:g.16221185T= , CM000679.1:g.16221185T= GRCh37
NC_000017.9:g.16161910T= NCBI36
NG_032651.1:g.105677T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.623T= MANE Select ENSP00000225609.5:p.Leu208=
ENST00000225609.9:c.623T= ENSP00000225609.5:p.Leu208=
ENST00000395844.8:c.591T= ENSP00000379185.3:p.Pro197=
ENST00000477745.5:n.621T=
ENST00000488375.2:n.481T=
ENST00000581006.5:c.426+17893T= ENSP00000462432.1:n.426+17893T=
ENST00000596678.2:c.165T= ENSP00000470064.2:p.Pro55=
ENST00000613719.1:n.987+183T=
NM_004278.3:c.623T= NP_004269.1:p.Leu208=
XR_243571.2:n.1621T=
XM_017025349.1:c.*787T= XP_016880838.1:n.*787T=
XM_017025350.1:c.*787T= XP_016880839.1:n.*787T=
XM_017025352.1:c.623T= XP_016880841.1:p.Leu208=
XM_017025353.1:c.623T= XP_016880842.1:p.Leu208=
XM_017025354.1:c.591T= XP_016880843.1:p.Pro197=
XM_017025355.1:c.591T= XP_016880844.1:p.Pro197=
XM_017025356.1:c.*1100T= XP_016880845.1:n.*1100T=
NM_004278.4:c.623T= MANE Select NP_004269.1:p.Leu208=