Canonical Allele Identifier: CA398480506

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221216G>C (hg19) ; chr17:g.16317902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317902G>C , CM000679.2:g.16317902G>C	GRCh38
NC_000017.10:g.16221216G>C , CM000679.1:g.16221216G>C	GRCh37
NC_000017.9:g.16161941G>C	NCBI36
NG_032651.1:g.105708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.654G>C MANE Select	ENSP00000225609.5:p.Gln218His
ENST00000225609.9:c.654G>C	ENSP00000225609.5:p.Gln218His
ENST00000395844.8:c.622G>C	ENSP00000379185.3:p.Gly208Arg
ENST00000477745.5:n.652G>C
ENST00000488375.2:n.512G>C
ENST00000581006.5:c.426+17924G>C	ENSP00000462432.1:n.426+17924G>C
ENST00000596678.2:c.196G>C	ENSP00000470064.2:p.Gly66Arg
ENST00000613719.1:n.987+214G>C
NM_004278.3:c.654G>C	NP_004269.1:p.Gln218His
XR_243571.2:n.1652G>C
XM_017025349.1:c.*818G>C	XP_016880838.1:n.*818G>C
XM_017025350.1:c.*818G>C	XP_016880839.1:n.*818G>C
XM_017025352.1:c.654G>C	XP_016880841.1:p.Gln218His
XM_017025353.1:c.654G>C	XP_016880842.1:p.Gln218His
XM_017025354.1:c.622G>C	XP_016880843.1:p.Gly208Arg
XM_017025355.1:c.622G>C	XP_016880844.1:p.Gly208Arg
XM_017025356.1:c.*1131G>C	XP_016880845.1:n.*1131G>C
NM_004278.4:c.654G>C MANE Select	NP_004269.1:p.Gln218His