Canonical Allele Identifier: CA398480273

Gene: PIGL

Linked Data

• dbSNP Id: rs2142872418
• gnomAD v4: 17-16317817-A-G
• MyVariant Identifiers: chr17:g.16221131A>G (hg19) ; chr17:g.16317817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317817A>G , CM000679.2:g.16317817A>G	GRCh38
NC_000017.10:g.16221131A>G , CM000679.1:g.16221131A>G	GRCh37
NC_000017.9:g.16161856A>G	NCBI36
NG_032651.1:g.105623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.569A>G MANE Select	ENSP00000225609.5:p.Lys190Arg
ENST00000225609.9:c.569A>G	ENSP00000225609.5:p.Lys190Arg
ENST00000395844.8:c.537A>G	ENSP00000379185.3:p.Gln179=
ENST00000477745.5:n.567A>G
ENST00000488375.2:n.427A>G
ENST00000580201.1:n.549A>G
ENST00000581006.5:c.426+17839A>G	ENSP00000462432.1:n.426+17839A>G
ENST00000596678.2:c.111A>G	ENSP00000470064.2:p.Gln37=
ENST00000613719.1:n.987+129A>G
NM_004278.3:c.569A>G	NP_004269.1:p.Lys190Arg
XR_243571.2:n.1567A>G
XR_429826.2:n.1014A>G
XM_017025349.1:c.*733A>G	XP_016880838.1:n.*733A>G
XM_017025350.1:c.*733A>G	XP_016880839.1:n.*733A>G
XM_017025351.1:c.*180A>G	XP_016880840.1:n.*180A>G
XM_017025352.1:c.569A>G	XP_016880841.1:p.Lys190Arg
XM_017025353.1:c.569A>G	XP_016880842.1:p.Lys190Arg
XM_017025354.1:c.537A>G	XP_016880843.1:p.Gln179=
XM_017025355.1:c.537A>G	XP_016880844.1:p.Gln179=
XM_017025356.1:c.*1046A>G	XP_016880845.1:n.*1046A>G
NM_004278.4:c.569A>G MANE Select	NP_004269.1:p.Lys190Arg