Canonical Allele Identifier: CA2250000652

Gene: PIGL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317824C= , CM000679.2:g.16317824C=	GRCh38
NC_000017.10:g.16221138C= , CM000679.1:g.16221138C=	GRCh37
NC_000017.9:g.16161863C=	NCBI36
NG_032651.1:g.105630C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.576C= MANE Select	ENSP00000225609.5:p.Ile192=
ENST00000225609.9:c.576C=	ENSP00000225609.5:p.Ile192=
ENST00000395844.8:c.544C=	ENSP00000379185.3:p.Leu182=
ENST00000477745.5:n.574C=
ENST00000488375.2:n.434C=
ENST00000581006.5:c.426+17846C=	ENSP00000462432.1:n.426+17846C=
ENST00000596678.2:c.118C=	ENSP00000470064.2:p.Leu40=
ENST00000613719.1:n.987+136C=
NM_004278.3:c.576C=	NP_004269.1:p.Ile192=
XR_243571.2:n.1574C=
XR_429826.2:n.1021C=
XM_017025349.1:c.*740C=	XP_016880838.1:n.*740C=
XM_017025350.1:c.*740C=	XP_016880839.1:n.*740C=
XM_017025351.1:c.*187C=	XP_016880840.1:n.*187C=
XM_017025352.1:c.576C=	XP_016880841.1:p.Ile192=
XM_017025353.1:c.576C=	XP_016880842.1:p.Ile192=
XM_017025354.1:c.544C=	XP_016880843.1:p.Leu182=
XM_017025355.1:c.544C=	XP_016880844.1:p.Leu182=
XM_017025356.1:c.*1053C=	XP_016880845.1:n.*1053C=
NM_004278.4:c.576C= MANE Select	NP_004269.1:p.Ile192=