Canonical Allele Identifier: CA173170

Gene: PIGL

Linked Data

• ClinVar Variation Id: 159712
• ClinVar RCV Id: RCV000147266 ; RCV000337135 ; RCV000865518
• dbSNP Id: rs138410893
• ExAC: 17:16220036 G / A
• gnomAD v2: 17-16220036-G-A
• gnomAD v3: 17-16316722-G-A
• gnomAD v4: 17-16316722-G-A
• MyVariant Identifiers: chr17:g.16220036G>A (hg19) ; chr17:g.16316722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16316722G>A , CM000679.2:g.16316722G>A	GRCh38
NC_000017.10:g.16220036G>A , CM000679.1:g.16220036G>A	GRCh37
NC_000017.9:g.16160761G>A	NCBI36
NG_032651.1:g.104528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.526+10G>A MANE Select	ENSP00000225609.5:n.526+10G>A
ENST00000225609.9:c.526+10G>A	ENSP00000225609.5:n.526+10G>A
ENST00000395844.8:c.495-1053G>A	ENSP00000379185.3:n.495-1053G>A
ENST00000477745.5:n.524+10G>A
ENST00000498772.6:n.553G>A
ENST00000580201.1:n.507-1053G>A
ENST00000581006.5:c.426+16744G>A	ENSP00000462432.1:n.426+16744G>A
ENST00000584797.5:c.526+10G>A	ENSP00000463540.1:n.526+10G>A
ENST00000585034.5:c.*130G>A	ENSP00000464424.1:n.*130G>A
ENST00000596678.2:c.69-1053G>A	ENSP00000470064.2:n.69-1053G>A
ENST00000613719.1:n.21G>A
NM_004278.3:c.526+10G>A	NP_004269.1:n.526+10G>A
XR_243571.2:n.544+10G>A
XR_429826.2:n.544+10G>A
XM_017025349.1:c.526+10G>A	XP_016880838.1:n.526+10G>A
XM_017025350.1:c.526+10G>A	XP_016880839.1:n.526+10G>A
XM_017025351.1:c.526+10G>A	XP_016880840.1:n.526+10G>A
XM_017025352.1:c.526+10G>A	XP_016880841.1:n.526+10G>A
XM_017025353.1:c.526+10G>A	XP_016880842.1:n.526+10G>A
XM_017025354.1:c.495-1053G>A	XP_016880843.1:n.495-1053G>A
XM_017025355.1:c.495-1053G>A	XP_016880844.1:n.495-1053G>A
XM_017025356.1:c.536G>A	XP_016880845.1:p.Cys179Tyr
NM_004278.4:c.526+10G>A MANE Select	NP_004269.1:n.526+10G>A