Canonical Allele Identifier: CA2636281138

Gene: PIGL

Linked Data

• gnomAD v4: 17-16313480-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313480G>A , CM000679.2:g.16313480G>A	GRCh38
NC_000017.10:g.16216794G>A , CM000679.1:g.16216794G>A	GRCh37
NC_000017.9:g.16157519G>A	NCBI36
NG_032651.1:g.101286G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.427-67G>A MANE Select	ENSP00000225609.5:n.427-67G>A
ENST00000225609.9:c.427-67G>A	ENSP00000225609.5:n.427-67G>A
ENST00000395844.8:c.427-67G>A	ENSP00000379185.3:n.427-67G>A
ENST00000477745.5:n.425-67G>A
ENST00000498772.6:n.444-67G>A
ENST00000580201.1:n.439-67G>A
ENST00000581006.5:c.426+13502G>A	ENSP00000462432.1:n.426+13502G>A
ENST00000584797.5:c.427-67G>A	ENSP00000463540.1:n.427-67G>A
ENST00000585034.5:c.*21-67G>A	ENSP00000464424.1:n.*21-67G>A
NM_004278.3:c.427-67G>A	NP_004269.1:n.427-67G>A
XM_011524080.1:c.427-67G>A	XP_011522382.1:n.427-67G>A
XR_243571.2:n.445-67G>A
XR_429826.2:n.445-67G>A
XM_011524080.2:c.427-67G>A	XP_011522382.1:n.427-67G>A
XM_017025349.1:c.427-67G>A	XP_016880838.1:n.427-67G>A
XM_017025350.1:c.427-67G>A	XP_016880839.1:n.427-67G>A
XM_017025351.1:c.427-67G>A	XP_016880840.1:n.427-67G>A
XM_017025352.1:c.427-67G>A	XP_016880841.1:n.427-67G>A
XM_017025353.1:c.427-67G>A	XP_016880842.1:n.427-67G>A
XM_017025354.1:c.427-67G>A	XP_016880843.1:n.427-67G>A
XM_017025355.1:c.427-67G>A	XP_016880844.1:n.427-67G>A
XM_017025356.1:c.427-67G>A	XP_016880845.1:n.427-67G>A
NM_004278.4:c.427-67G>A MANE Select	NP_004269.1:n.427-67G>A