Canonical Allele Identifier: CA398480373

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221167T>A (hg19) ; chr17:g.16317853T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317853T>A , CM000679.2:g.16317853T>A	GRCh38
NC_000017.10:g.16221167T>A , CM000679.1:g.16221167T>A	GRCh37
NC_000017.9:g.16161892T>A	NCBI36
NG_032651.1:g.105659T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.605T>A MANE Select	ENSP00000225609.5:p.Leu202His
ENST00000225609.9:c.605T>A	ENSP00000225609.5:p.Leu202His
ENST00000395844.8:c.573T>A	ENSP00000379185.3:p.Ala191=
ENST00000477745.5:n.603T>A
ENST00000488375.2:n.463T>A
ENST00000581006.5:c.426+17875T>A	ENSP00000462432.1:n.426+17875T>A
ENST00000596678.2:c.147T>A	ENSP00000470064.2:p.Ala49=
ENST00000613719.1:n.987+165T>A
NM_004278.3:c.605T>A	NP_004269.1:p.Leu202His
XR_243571.2:n.1603T>A
XR_429826.2:n.1050T>A
XM_017025349.1:c.*769T>A	XP_016880838.1:n.*769T>A
XM_017025350.1:c.*769T>A	XP_016880839.1:n.*769T>A
XM_017025351.1:c.*216T>A	XP_016880840.1:n.*216T>A
XM_017025352.1:c.605T>A	XP_016880841.1:p.Leu202His
XM_017025353.1:c.605T>A	XP_016880842.1:p.Leu202His
XM_017025354.1:c.573T>A	XP_016880843.1:p.Ala191=
XM_017025355.1:c.573T>A	XP_016880844.1:p.Ala191=
XM_017025356.1:c.*1082T>A	XP_016880845.1:n.*1082T>A
NM_004278.4:c.605T>A MANE Select	NP_004269.1:p.Leu202His