Canonical Allele Identifier: CA2636281430

Gene: PIGL

Linked Data

• gnomAD v4: 17-16316744-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16316744A>C , CM000679.2:g.16316744A>C	GRCh38
NC_000017.10:g.16220058A>C , CM000679.1:g.16220058A>C	GRCh37
NC_000017.9:g.16160783A>C	NCBI36
NG_032651.1:g.104550A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.526+32A>C MANE Select	ENSP00000225609.5:n.526+32A>C
ENST00000225609.9:c.526+32A>C	ENSP00000225609.5:n.526+32A>C
ENST00000395844.8:c.495-1031A>C	ENSP00000379185.3:n.495-1031A>C
ENST00000477745.5:n.524+32A>C
ENST00000498772.6:n.575A>C
ENST00000580201.1:n.507-1031A>C
ENST00000581006.5:c.426+16766A>C	ENSP00000462432.1:n.426+16766A>C
ENST00000584797.5:c.526+32A>C	ENSP00000463540.1:n.526+32A>C
ENST00000585034.5:c.*152A>C	ENSP00000464424.1:n.*152A>C
ENST00000596678.2:c.69-1031A>C	ENSP00000470064.2:n.69-1031A>C
ENST00000613719.1:n.43A>C
NM_004278.3:c.526+32A>C	NP_004269.1:n.526+32A>C
XR_243571.2:n.544+32A>C
XR_429826.2:n.544+32A>C
XM_017025349.1:c.526+32A>C	XP_016880838.1:n.526+32A>C
XM_017025350.1:c.526+32A>C	XP_016880839.1:n.526+32A>C
XM_017025351.1:c.526+32A>C	XP_016880840.1:n.526+32A>C
XM_017025352.1:c.526+32A>C	XP_016880841.1:n.526+32A>C
XM_017025353.1:c.526+32A>C	XP_016880842.1:n.526+32A>C
XM_017025354.1:c.495-1031A>C	XP_016880843.1:n.495-1031A>C
XM_017025355.1:c.495-1031A>C	XP_016880844.1:n.495-1031A>C
XM_017025356.1:c.558A>C	XP_016880845.1:p.Gln186His
NM_004278.4:c.526+32A>C MANE Select	NP_004269.1:n.526+32A>C