Canonical Allele Identifier: CA398480440

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221192G>A (hg19) ; chr17:g.16317878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317878G>A , CM000679.2:g.16317878G>A	GRCh38
NC_000017.10:g.16221192G>A , CM000679.1:g.16221192G>A	GRCh37
NC_000017.9:g.16161917G>A	NCBI36
NG_032651.1:g.105684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.630G>A MANE Select	ENSP00000225609.5:p.Val210=
ENST00000225609.9:c.630G>A	ENSP00000225609.5:p.Val210=
ENST00000395844.8:c.598G>A	ENSP00000379185.3:p.Ala200Thr
ENST00000477745.5:n.628G>A
ENST00000488375.2:n.488G>A
ENST00000581006.5:c.426+17900G>A	ENSP00000462432.1:n.426+17900G>A
ENST00000596678.2:c.172G>A	ENSP00000470064.2:p.Ala58Thr
ENST00000613719.1:n.987+190G>A
NM_004278.3:c.630G>A	NP_004269.1:p.Val210=
XR_243571.2:n.1628G>A
XM_017025349.1:c.*794G>A	XP_016880838.1:n.*794G>A
XM_017025350.1:c.*794G>A	XP_016880839.1:n.*794G>A
XM_017025352.1:c.630G>A	XP_016880841.1:p.Val210=
XM_017025353.1:c.630G>A	XP_016880842.1:p.Val210=
XM_017025354.1:c.598G>A	XP_016880843.1:p.Ala200Thr
XM_017025355.1:c.598G>A	XP_016880844.1:p.Ala200Thr
XM_017025356.1:c.*1107G>A	XP_016880845.1:n.*1107G>A
NM_004278.4:c.630G>A MANE Select	NP_004269.1:p.Val210=