Canonical Allele Identifier: CA498043301

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16220007A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16316693A>T , CM000679.2:g.16316693A>T	GRCh38
NC_000017.10:g.16220007A>T , CM000679.1:g.16220007A>T	GRCh37
NC_000017.9:g.16160732A>T	NCBI36
NG_032651.1:g.104499A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.507A>T MANE Select	ENSP00000225609.5:p.Ser169=
ENST00000225609.9:c.507A>T	ENSP00000225609.5:p.Ser169=
ENST00000395844.8:c.495-1082A>T	ENSP00000379185.3:n.495-1082A>T
ENST00000477745.5:n.505A>T
ENST00000498772.6:n.524A>T
ENST00000580201.1:n.507-1082A>T
ENST00000581006.5:c.426+16715A>T	ENSP00000462432.1:n.426+16715A>T
ENST00000584797.5:c.507A>T	ENSP00000463540.1:p.Ser169=
ENST00000585034.5:c.*101A>T	ENSP00000464424.1:n.*101A>T
ENST00000596678.2:c.69-1082A>T	ENSP00000470064.2:n.69-1082A>T
NM_004278.3:c.507A>T	NP_004269.1:p.Ser169=
XR_243571.2:n.525A>T
XR_429826.2:n.525A>T
XM_017025349.1:c.507A>T	XP_016880838.1:p.Ser169=
XM_017025350.1:c.507A>T	XP_016880839.1:p.Ser169=
XM_017025351.1:c.507A>T	XP_016880840.1:p.Ser169=
XM_017025352.1:c.507A>T	XP_016880841.1:p.Ser169=
XM_017025353.1:c.507A>T	XP_016880842.1:p.Ser169=
XM_017025354.1:c.495-1082A>T	XP_016880843.1:n.495-1082A>T
XM_017025355.1:c.495-1082A>T	XP_016880844.1:n.495-1082A>T
XM_017025356.1:c.507A>T	XP_016880845.1:p.Ser169=
NM_004278.4:c.507A>T MANE Select	NP_004269.1:p.Ser169=