Canonical Allele Identifier: CA398480327

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221150T>C (hg19) ; chr17:g.16317836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317836T>C , CM000679.2:g.16317836T>C	GRCh38
NC_000017.10:g.16221150T>C , CM000679.1:g.16221150T>C	GRCh37
NC_000017.9:g.16161875T>C	NCBI36
NG_032651.1:g.105642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.588T>C MANE Select	ENSP00000225609.5:p.Asp196=
ENST00000225609.9:c.588T>C	ENSP00000225609.5:p.Asp196=
ENST00000395844.8:c.556T>C	ENSP00000379185.3:p.Ser186Pro
ENST00000477745.5:n.586T>C
ENST00000488375.2:n.446T>C
ENST00000581006.5:c.426+17858T>C	ENSP00000462432.1:n.426+17858T>C
ENST00000596678.2:c.130T>C	ENSP00000470064.2:p.Ser44Pro
ENST00000613719.1:n.987+148T>C
NM_004278.3:c.588T>C	NP_004269.1:p.Asp196=
XR_243571.2:n.1586T>C
XR_429826.2:n.1033T>C
XM_017025349.1:c.*752T>C	XP_016880838.1:n.*752T>C
XM_017025350.1:c.*752T>C	XP_016880839.1:n.*752T>C
XM_017025351.1:c.*199T>C	XP_016880840.1:n.*199T>C
XM_017025352.1:c.588T>C	XP_016880841.1:p.Asp196=
XM_017025353.1:c.588T>C	XP_016880842.1:p.Asp196=
XM_017025354.1:c.556T>C	XP_016880843.1:p.Ser186Pro
XM_017025355.1:c.556T>C	XP_016880844.1:p.Ser186Pro
XM_017025356.1:c.*1065T>C	XP_016880845.1:n.*1065T>C
NM_004278.4:c.588T>C MANE Select	NP_004269.1:p.Asp196=