Canonical Allele Identifier: CA398479872

Gene: PIGL

Linked Data

• dbSNP Id: rs140211194
• gnomAD v2: 17-16216880-G-T
• gnomAD v3: 17-16313566-G-T
• gnomAD v4: 17-16313566-G-T
• MyVariant Identifiers: chr17:g.16216880G>T (hg19) ; chr17:g.16313566G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313566G>T , CM000679.2:g.16313566G>T	GRCh38
NC_000017.10:g.16216880G>T , CM000679.1:g.16216880G>T	GRCh37
NC_000017.9:g.16157605G>T	NCBI36
NG_032651.1:g.101372G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.446G>T MANE Select	ENSP00000225609.5:p.Gly149Val
ENST00000225609.9:c.446G>T	ENSP00000225609.5:p.Gly149Val
ENST00000395844.8:c.446G>T	ENSP00000379185.3:p.Gly149Val
ENST00000477745.5:n.444G>T
ENST00000498772.6:n.463G>T
ENST00000580201.1:n.458G>T
ENST00000581006.5:c.426+13588G>T	ENSP00000462432.1:n.426+13588G>T
ENST00000584797.5:c.446G>T	ENSP00000463540.1:p.Gly149Val
ENST00000585034.5:c.*40G>T	ENSP00000464424.1:n.*40G>T
ENST00000596678.2:c.20G>T	ENSP00000470064.2:p.Gly7Val
NM_004278.3:c.446G>T	NP_004269.1:p.Gly149Val
XM_011524080.1:c.446G>T	XP_011522382.1:p.Gly149Val
XR_243571.2:n.464G>T
XR_429826.2:n.464G>T
XM_011524080.2:c.446G>T	XP_011522382.1:p.Gly149Val
XM_017025349.1:c.446G>T	XP_016880838.1:p.Gly149Val
XM_017025350.1:c.446G>T	XP_016880839.1:p.Gly149Val
XM_017025351.1:c.446G>T	XP_016880840.1:p.Gly149Val
XM_017025352.1:c.446G>T	XP_016880841.1:p.Gly149Val
XM_017025353.1:c.446G>T	XP_016880842.1:p.Gly149Val
XM_017025354.1:c.446G>T	XP_016880843.1:p.Gly149Val
XM_017025355.1:c.446G>T	XP_016880844.1:p.Gly149Val
XM_017025356.1:c.446G>T	XP_016880845.1:p.Gly149Val
NM_004278.4:c.446G>T MANE Select	NP_004269.1:p.Gly149Val