Canonical Allele Identifier: CA398480301

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221141C>T (hg19) ; chr17:g.16317827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317827C>T , CM000679.2:g.16317827C>T	GRCh38
NC_000017.10:g.16221141C>T , CM000679.1:g.16221141C>T	GRCh37
NC_000017.9:g.16161866C>T	NCBI36
NG_032651.1:g.105633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.579C>T MANE Select	ENSP00000225609.5:p.Ser193=
ENST00000225609.9:c.579C>T	ENSP00000225609.5:p.Ser193=
ENST00000395844.8:c.547C>T	ENSP00000379185.3:p.Pro183Ser
ENST00000477745.5:n.577C>T
ENST00000488375.2:n.437C>T
ENST00000581006.5:c.426+17849C>T	ENSP00000462432.1:n.426+17849C>T
ENST00000596678.2:c.121C>T	ENSP00000470064.2:p.Pro41Ser
ENST00000613719.1:n.987+139C>T
NM_004278.3:c.579C>T	NP_004269.1:p.Ser193=
XR_243571.2:n.1577C>T
XR_429826.2:n.1024C>T
XM_017025349.1:c.*743C>T	XP_016880838.1:n.*743C>T
XM_017025350.1:c.*743C>T	XP_016880839.1:n.*743C>T
XM_017025351.1:c.*190C>T	XP_016880840.1:n.*190C>T
XM_017025352.1:c.579C>T	XP_016880841.1:p.Ser193=
XM_017025353.1:c.579C>T	XP_016880842.1:p.Ser193=
XM_017025354.1:c.547C>T	XP_016880843.1:p.Pro183Ser
XM_017025355.1:c.547C>T	XP_016880844.1:p.Pro183Ser
XM_017025356.1:c.*1056C>T	XP_016880845.1:n.*1056C>T
NM_004278.4:c.579C>T MANE Select	NP_004269.1:p.Ser193=