Canonical Allele Identifier: CA8409990

Gene: PIGL

Linked Data

• ClinVar Variation Id: 1931241
• ClinVar RCV Id: RCV002631466
• dbSNP Id: rs181528295
• ExAC: 17:16221129 C / A
• gnomAD v2: 17-16221129-C-A
• gnomAD v3: 17-16317815-C-A
• gnomAD v4: 17-16317815-C-A
• MyVariant Identifiers: chr17:g.16221129C>A (hg19) ; chr17:g.16317815C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317815C>A , CM000679.2:g.16317815C>A	GRCh38
NC_000017.10:g.16221129C>A , CM000679.1:g.16221129C>A	GRCh37
NC_000017.9:g.16161854C>A	NCBI36
NG_032651.1:g.105621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.567C>A MANE Select	ENSP00000225609.5:p.Arg189=
ENST00000225609.9:c.567C>A	ENSP00000225609.5:p.Arg189=
ENST00000395844.8:c.535C>A	ENSP00000379185.3:p.Gln179Lys
ENST00000477745.5:n.565C>A
ENST00000488375.2:n.425C>A
ENST00000580201.1:n.547C>A
ENST00000581006.5:c.426+17837C>A	ENSP00000462432.1:n.426+17837C>A
ENST00000596678.2:c.109C>A	ENSP00000470064.2:p.Gln37Lys
ENST00000613719.1:n.987+127C>A
NM_004278.3:c.567C>A	NP_004269.1:p.Arg189=
XR_243571.2:n.1565C>A
XR_429826.2:n.1012C>A
XM_017025349.1:c.*731C>A	XP_016880838.1:n.*731C>A
XM_017025350.1:c.*731C>A	XP_016880839.1:n.*731C>A
XM_017025351.1:c.*178C>A	XP_016880840.1:n.*178C>A
XM_017025352.1:c.567C>A	XP_016880841.1:p.Arg189=
XM_017025353.1:c.567C>A	XP_016880842.1:p.Arg189=
XM_017025354.1:c.535C>A	XP_016880843.1:p.Gln179Lys
XM_017025355.1:c.535C>A	XP_016880844.1:p.Gln179Lys
XM_017025356.1:c.*1044C>A	XP_016880845.1:n.*1044C>A
NM_004278.4:c.567C>A MANE Select	NP_004269.1:p.Arg189=