Canonical Allele Identifier: CA398480513

Gene: PIGL

Linked Data

• gnomAD v4: 17-16317904-C-T
• MyVariant Identifiers: chr17:g.16221218C>T (hg19) ; chr17:g.16317904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317904C>T , CM000679.2:g.16317904C>T	GRCh38
NC_000017.10:g.16221218C>T , CM000679.1:g.16221218C>T	GRCh37
NC_000017.9:g.16161943C>T	NCBI36
NG_032651.1:g.105710C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.656C>T MANE Select	ENSP00000225609.5:p.Ala219Val
ENST00000225609.9:c.656C>T	ENSP00000225609.5:p.Ala219Val
ENST00000395844.8:c.624C>T	ENSP00000379185.3:p.Gly208=
ENST00000477745.5:n.654C>T
ENST00000488375.2:n.514C>T
ENST00000581006.5:c.426+17926C>T	ENSP00000462432.1:n.426+17926C>T
ENST00000596678.2:c.198C>T	ENSP00000470064.2:p.Gly66=
ENST00000613719.1:n.987+216C>T
NM_004278.3:c.656C>T	NP_004269.1:p.Ala219Val
XR_243571.2:n.1654C>T
XM_017025349.1:c.*820C>T	XP_016880838.1:n.*820C>T
XM_017025350.1:c.*820C>T	XP_016880839.1:n.*820C>T
XM_017025352.1:c.656C>T	XP_016880841.1:p.Ala219Val
XM_017025353.1:c.656C>T	XP_016880842.1:p.Ala219Val
XM_017025354.1:c.624C>T	XP_016880843.1:p.Gly208=
XM_017025355.1:c.624C>T	XP_016880844.1:p.Gly208=
XM_017025356.1:c.*1133C>T	XP_016880845.1:n.*1133C>T
NM_004278.4:c.656C>T MANE Select	NP_004269.1:p.Ala219Val