Canonical Allele Identifier: CA398481037

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16229181A>G (hg19) ; chr17:g.16325867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16325867A>G , CM000679.2:g.16325867A>G	GRCh38
NC_000017.10:g.16229181A>G , CM000679.1:g.16229181A>G	GRCh37
NC_000017.9:g.16169906A>G	NCBI36
NG_032651.1:g.113673A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.728A>G MANE Select	ENSP00000225609.5:p.Tyr243Cys
ENST00000225609.9:c.728A>G	ENSP00000225609.5:p.Tyr243Cys
ENST00000395844.8:c.696A>G	ENSP00000379185.3:p.Val232=
ENST00000488375.2:n.586A>G
ENST00000581006.5:c.427-22825A>G	ENSP00000462432.1:n.427-22825A>G
ENST00000596678.2:c.270A>G	ENSP00000470064.2:p.Val90=
ENST00000613719.1:n.987+8179A>G
NM_004278.3:c.728A>G	NP_004269.1:p.Tyr243Cys
XR_243571.2:n.1726A>G
XM_017025349.1:c.*892A>G	XP_016880838.1:n.*892A>G
XM_017025350.1:c.*892A>G	XP_016880839.1:n.*892A>G
XM_017025352.1:c.728A>G	XP_016880841.1:p.Tyr243Cys
XM_017025353.1:c.728A>G	XP_016880842.1:p.Tyr243Cys
XM_017025354.1:c.696A>G	XP_016880843.1:p.Val232=
XM_017025355.1:c.696A>G	XP_016880844.1:p.Val232=
XM_017025356.1:c.*1205A>G	XP_016880845.1:n.*1205A>G
NM_004278.4:c.728A>G MANE Select	NP_004269.1:p.Tyr243Cys