Canonical Allele Identifier: CA498042642

Gene: PIGL

Linked Data

• dbSNP Id: rs1390701969
• gnomAD v3: 17-16299894-C-T
• gnomAD v4: 17-16299894-C-T
• MyVariant Identifiers: chr17:g.16203208C>T (hg19) ; chr17:g.16299894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16299894C>T , CM000679.2:g.16299894C>T	GRCh38
NC_000017.10:g.16203208C>T , CM000679.1:g.16203208C>T	GRCh37
NC_000017.9:g.16143933C>T	NCBI36
NG_032651.1:g.87700C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.342C>T MANE Select	ENSP00000225609.5:p.Phe114=
ENST00000225609.9:c.342C>T	ENSP00000225609.5:p.Phe114=
ENST00000395844.8:c.342C>T	ENSP00000379185.3:p.Phe114=
ENST00000477745.5:n.340C>T
ENST00000498772.6:n.359C>T
ENST00000581006.5:c.342C>T	ENSP00000462432.1:p.Phe114=
ENST00000584797.5:c.342C>T	ENSP00000463540.1:p.Phe114=
ENST00000585034.5:c.242C>T	ENSP00000464424.1:p.Ser81Phe
ENST00000607144.4:n.378C>T
NM_004278.3:c.342C>T	NP_004269.1:p.Phe114=
XM_011524080.1:c.342C>T	XP_011522382.1:p.Phe114=
XR_243571.2:n.360C>T
XR_429826.2:n.360C>T
XM_011524080.2:c.342C>T	XP_011522382.1:p.Phe114=
XM_017025349.1:c.342C>T	XP_016880838.1:p.Phe114=
XM_017025350.1:c.342C>T	XP_016880839.1:p.Phe114=
XM_017025351.1:c.342C>T	XP_016880840.1:p.Phe114=
XM_017025352.1:c.342C>T	XP_016880841.1:p.Phe114=
XM_017025353.1:c.342C>T	XP_016880842.1:p.Phe114=
XM_017025354.1:c.342C>T	XP_016880843.1:p.Phe114=
XM_017025355.1:c.342C>T	XP_016880844.1:p.Phe114=
XM_017025356.1:c.342C>T	XP_016880845.1:p.Phe114=
NM_004278.4:c.342C>T MANE Select	NP_004269.1:p.Phe114=