Canonical Allele Identifier: CA398479888

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16216889G>C (hg19) ; chr17:g.16313575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313575G>C , CM000679.2:g.16313575G>C	GRCh38
NC_000017.10:g.16216889G>C , CM000679.1:g.16216889G>C	GRCh37
NC_000017.9:g.16157614G>C	NCBI36
NG_032651.1:g.101381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.455G>C MANE Select	ENSP00000225609.5:p.Ser152Thr
ENST00000225609.9:c.455G>C	ENSP00000225609.5:p.Ser152Thr
ENST00000395844.8:c.455G>C	ENSP00000379185.3:p.Ser152Thr
ENST00000477745.5:n.453G>C
ENST00000498772.6:n.472G>C
ENST00000580201.1:n.467G>C
ENST00000581006.5:c.426+13597G>C	ENSP00000462432.1:n.426+13597G>C
ENST00000584797.5:c.455G>C	ENSP00000463540.1:p.Ser152Thr
ENST00000585034.5:c.*49G>C	ENSP00000464424.1:n.*49G>C
ENST00000596678.2:c.29G>C	ENSP00000470064.2:p.Ser10Thr
NM_004278.3:c.455G>C	NP_004269.1:p.Ser152Thr
XM_011524080.1:c.455G>C	XP_011522382.1:p.Ser152Thr
XR_243571.2:n.473G>C
XR_429826.2:n.473G>C
XM_011524080.2:c.455G>C	XP_011522382.1:p.Ser152Thr
XM_017025349.1:c.455G>C	XP_016880838.1:p.Ser152Thr
XM_017025350.1:c.455G>C	XP_016880839.1:p.Ser152Thr
XM_017025351.1:c.455G>C	XP_016880840.1:p.Ser152Thr
XM_017025352.1:c.455G>C	XP_016880841.1:p.Ser152Thr
XM_017025353.1:c.455G>C	XP_016880842.1:p.Ser152Thr
XM_017025354.1:c.455G>C	XP_016880843.1:p.Ser152Thr
XM_017025355.1:c.455G>C	XP_016880844.1:p.Ser152Thr
XM_017025356.1:c.455G>C	XP_016880845.1:p.Ser152Thr
NM_004278.4:c.455G>C MANE Select	NP_004269.1:p.Ser152Thr