Canonical Allele Identifier: CA624974720

Gene: PIGL

Linked Data

• dbSNP Id: rs1287929848
• gnomAD v2: 17-16221262-C-T
• MyVariant Identifiers: chr17:g.16221262C>T (hg19) ; chr17:g.16317948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317948C>T , CM000679.2:g.16317948C>T	GRCh38
NC_000017.10:g.16221262C>T , CM000679.1:g.16221262C>T	GRCh37
NC_000017.9:g.16161987C>T	NCBI36
NG_032651.1:g.105754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.660+40C>T MANE Select	ENSP00000225609.5:n.660+40C>T
ENST00000225609.9:c.660+40C>T	ENSP00000225609.5:n.660+40C>T
ENST00000395844.8:c.628+40C>T	ENSP00000379185.3:n.628+40C>T
ENST00000477745.5:n.658+40C>T
ENST00000488375.2:n.518+40C>T
ENST00000581006.5:c.426+17970C>T	ENSP00000462432.1:n.426+17970C>T
ENST00000596678.2:c.202+40C>T	ENSP00000470064.2:n.202+40C>T
ENST00000613719.1:n.987+260C>T
NM_004278.3:c.660+40C>T	NP_004269.1:n.660+40C>T
XR_243571.2:n.1658+40C>T
XM_017025349.1:c.*824+40C>T	XP_016880838.1:n.*824+40C>T
XM_017025350.1:c.*824+40C>T	XP_016880839.1:n.*824+40C>T
XM_017025352.1:c.660+40C>T	XP_016880841.1:n.660+40C>T
XM_017025353.1:c.660+40C>T	XP_016880842.1:n.660+40C>T
XM_017025354.1:c.628+40C>T	XP_016880843.1:n.628+40C>T
XM_017025355.1:c.628+40C>T	XP_016880844.1:n.628+40C>T
XM_017025356.1:c.*1137+40C>T	XP_016880845.1:n.*1137+40C>T
NM_004278.4:c.660+40C>T MANE Select	NP_004269.1:n.660+40C>T