Canonical Allele Identifier: CA398480248

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221121G>T (hg19) ; chr17:g.16317807G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317807G>T , CM000679.2:g.16317807G>T	GRCh38
NC_000017.10:g.16221121G>T , CM000679.1:g.16221121G>T	GRCh37
NC_000017.9:g.16161846G>T	NCBI36
NG_032651.1:g.105613G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.559G>T MANE Select	ENSP00000225609.5:p.Val187Leu
ENST00000225609.9:c.559G>T	ENSP00000225609.5:p.Val187Leu
ENST00000395844.8:c.527G>T	ENSP00000379185.3:p.Cys176Phe
ENST00000477745.5:n.557G>T
ENST00000488375.2:n.417G>T
ENST00000580201.1:n.539G>T
ENST00000581006.5:c.426+17829G>T	ENSP00000462432.1:n.426+17829G>T
ENST00000596678.2:c.101G>T	ENSP00000470064.2:p.Cys34Phe
ENST00000613719.1:n.987+119G>T
NM_004278.3:c.559G>T	NP_004269.1:p.Val187Leu
XR_243571.2:n.1557G>T
XR_429826.2:n.1004G>T
XM_017025349.1:c.*723G>T	XP_016880838.1:n.*723G>T
XM_017025350.1:c.*723G>T	XP_016880839.1:n.*723G>T
XM_017025351.1:c.*170G>T	XP_016880840.1:n.*170G>T
XM_017025352.1:c.559G>T	XP_016880841.1:p.Val187Leu
XM_017025353.1:c.559G>T	XP_016880842.1:p.Val187Leu
XM_017025354.1:c.527G>T	XP_016880843.1:p.Cys176Phe
XM_017025355.1:c.527G>T	XP_016880844.1:p.Cys176Phe
XM_017025356.1:c.*1036G>T	XP_016880845.1:n.*1036G>T
NM_004278.4:c.559G>T MANE Select	NP_004269.1:p.Val187Leu