Canonical Allele Identifier: CA398479861

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16216875T>A (hg19) ; chr17:g.16313561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313561T>A , CM000679.2:g.16313561T>A	GRCh38
NC_000017.10:g.16216875T>A , CM000679.1:g.16216875T>A	GRCh37
NC_000017.9:g.16157600T>A	NCBI36
NG_032651.1:g.101367T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.441T>A MANE Select	ENSP00000225609.5:p.Asp147Glu
ENST00000225609.9:c.441T>A	ENSP00000225609.5:p.Asp147Glu
ENST00000395844.8:c.441T>A	ENSP00000379185.3:p.Asp147Glu
ENST00000477745.5:n.439T>A
ENST00000498772.6:n.458T>A
ENST00000580201.1:n.453T>A
ENST00000581006.5:c.426+13583T>A	ENSP00000462432.1:n.426+13583T>A
ENST00000584797.5:c.441T>A	ENSP00000463540.1:p.Asp147Glu
ENST00000585034.5:c.*35T>A	ENSP00000464424.1:n.*35T>A
ENST00000596678.2:c.15T>A	ENSP00000470064.2:p.Asp5Glu
NM_004278.3:c.441T>A	NP_004269.1:p.Asp147Glu
XM_011524080.1:c.441T>A	XP_011522382.1:p.Asp147Glu
XR_243571.2:n.459T>A
XR_429826.2:n.459T>A
XM_011524080.2:c.441T>A	XP_011522382.1:p.Asp147Glu
XM_017025349.1:c.441T>A	XP_016880838.1:p.Asp147Glu
XM_017025350.1:c.441T>A	XP_016880839.1:p.Asp147Glu
XM_017025351.1:c.441T>A	XP_016880840.1:p.Asp147Glu
XM_017025352.1:c.441T>A	XP_016880841.1:p.Asp147Glu
XM_017025353.1:c.441T>A	XP_016880842.1:p.Asp147Glu
XM_017025354.1:c.441T>A	XP_016880843.1:p.Asp147Glu
XM_017025355.1:c.441T>A	XP_016880844.1:p.Asp147Glu
XM_017025356.1:c.441T>A	XP_016880845.1:p.Asp147Glu
NM_004278.4:c.441T>A MANE Select	NP_004269.1:p.Asp147Glu