Canonical Allele Identifier: CA398480279

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221133T>C (hg19) ; chr17:g.16317819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317819T>C , CM000679.2:g.16317819T>C	GRCh38
NC_000017.10:g.16221133T>C , CM000679.1:g.16221133T>C	GRCh37
NC_000017.9:g.16161858T>C	NCBI36
NG_032651.1:g.105625T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.571T>C MANE Select	ENSP00000225609.5:p.Tyr191His
ENST00000225609.9:c.571T>C	ENSP00000225609.5:p.Tyr191His
ENST00000395844.8:c.539T>C	ENSP00000379185.3:p.Val180Ala
ENST00000477745.5:n.569T>C
ENST00000488375.2:n.429T>C
ENST00000580201.1:n.551T>C
ENST00000581006.5:c.426+17841T>C	ENSP00000462432.1:n.426+17841T>C
ENST00000596678.2:c.113T>C	ENSP00000470064.2:p.Val38Ala
ENST00000613719.1:n.987+131T>C
NM_004278.3:c.571T>C	NP_004269.1:p.Tyr191His
XR_243571.2:n.1569T>C
XR_429826.2:n.1016T>C
XM_017025349.1:c.*735T>C	XP_016880838.1:n.*735T>C
XM_017025350.1:c.*735T>C	XP_016880839.1:n.*735T>C
XM_017025351.1:c.*182T>C	XP_016880840.1:n.*182T>C
XM_017025352.1:c.571T>C	XP_016880841.1:p.Tyr191His
XM_017025353.1:c.571T>C	XP_016880842.1:p.Tyr191His
XM_017025354.1:c.539T>C	XP_016880843.1:p.Val180Ala
XM_017025355.1:c.539T>C	XP_016880844.1:p.Val180Ala
XM_017025356.1:c.*1048T>C	XP_016880845.1:n.*1048T>C
NM_004278.4:c.571T>C MANE Select	NP_004269.1:p.Tyr191His