Canonical Allele Identifier: CA398480258

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221125T>A (hg19) ; chr17:g.16317811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317811T>A , CM000679.2:g.16317811T>A	GRCh38
NC_000017.10:g.16221125T>A , CM000679.1:g.16221125T>A	GRCh37
NC_000017.9:g.16161850T>A	NCBI36
NG_032651.1:g.105617T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.563T>A MANE Select	ENSP00000225609.5:p.Leu188Gln
ENST00000225609.9:c.563T>A	ENSP00000225609.5:p.Leu188Gln
ENST00000395844.8:c.531T>A	ENSP00000379185.3:p.Ala177=
ENST00000477745.5:n.561T>A
ENST00000488375.2:n.421T>A
ENST00000580201.1:n.543T>A
ENST00000581006.5:c.426+17833T>A	ENSP00000462432.1:n.426+17833T>A
ENST00000596678.2:c.105T>A	ENSP00000470064.2:p.Ala35=
ENST00000613719.1:n.987+123T>A
NM_004278.3:c.563T>A	NP_004269.1:p.Leu188Gln
XR_243571.2:n.1561T>A
XR_429826.2:n.1008T>A
XM_017025349.1:c.*727T>A	XP_016880838.1:n.*727T>A
XM_017025350.1:c.*727T>A	XP_016880839.1:n.*727T>A
XM_017025351.1:c.*174T>A	XP_016880840.1:n.*174T>A
XM_017025352.1:c.563T>A	XP_016880841.1:p.Leu188Gln
XM_017025353.1:c.563T>A	XP_016880842.1:p.Leu188Gln
XM_017025354.1:c.531T>A	XP_016880843.1:p.Ala177=
XM_017025355.1:c.531T>A	XP_016880844.1:p.Ala177=
XM_017025356.1:c.*1040T>A	XP_016880845.1:n.*1040T>A
NM_004278.4:c.563T>A MANE Select	NP_004269.1:p.Leu188Gln