Canonical Allele Identifier: CA398480306

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221143T>C (hg19) ; chr17:g.16317829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317829T>C , CM000679.2:g.16317829T>C	GRCh38
NC_000017.10:g.16221143T>C , CM000679.1:g.16221143T>C	GRCh37
NC_000017.9:g.16161868T>C	NCBI36
NG_032651.1:g.105635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.581T>C MANE Select	ENSP00000225609.5:p.Leu194Pro
ENST00000225609.9:c.581T>C	ENSP00000225609.5:p.Leu194Pro
ENST00000395844.8:c.549T>C	ENSP00000379185.3:p.Pro183=
ENST00000477745.5:n.579T>C
ENST00000488375.2:n.439T>C
ENST00000581006.5:c.426+17851T>C	ENSP00000462432.1:n.426+17851T>C
ENST00000596678.2:c.123T>C	ENSP00000470064.2:p.Pro41=
ENST00000613719.1:n.987+141T>C
NM_004278.3:c.581T>C	NP_004269.1:p.Leu194Pro
XR_243571.2:n.1579T>C
XR_429826.2:n.1026T>C
XM_017025349.1:c.*745T>C	XP_016880838.1:n.*745T>C
XM_017025350.1:c.*745T>C	XP_016880839.1:n.*745T>C
XM_017025351.1:c.*192T>C	XP_016880840.1:n.*192T>C
XM_017025352.1:c.581T>C	XP_016880841.1:p.Leu194Pro
XM_017025353.1:c.581T>C	XP_016880842.1:p.Leu194Pro
XM_017025354.1:c.549T>C	XP_016880843.1:p.Pro183=
XM_017025355.1:c.549T>C	XP_016880844.1:p.Pro183=
XM_017025356.1:c.*1058T>C	XP_016880845.1:n.*1058T>C
NM_004278.4:c.581T>C MANE Select	NP_004269.1:p.Leu194Pro