Canonical Allele Identifier: CA398480467

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221202A>T (hg19) ; chr17:g.16317888A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317888A>T , CM000679.2:g.16317888A>T	GRCh38
NC_000017.10:g.16221202A>T , CM000679.1:g.16221202A>T	GRCh37
NC_000017.9:g.16161927A>T	NCBI36
NG_032651.1:g.105694A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.640A>T MANE Select	ENSP00000225609.5:p.Lys214Ter
ENST00000225609.9:c.640A>T	ENSP00000225609.5:p.Lys214Ter
ENST00000395844.8:c.608A>T	ENSP00000379185.3:p.Gln203Leu
ENST00000477745.5:n.638A>T
ENST00000488375.2:n.498A>T
ENST00000581006.5:c.426+17910A>T	ENSP00000462432.1:n.426+17910A>T
ENST00000596678.2:c.182A>T	ENSP00000470064.2:p.Gln61Leu
ENST00000613719.1:n.987+200A>T
NM_004278.3:c.640A>T	NP_004269.1:p.Lys214Ter
XR_243571.2:n.1638A>T
XM_017025349.1:c.*804A>T	XP_016880838.1:n.*804A>T
XM_017025350.1:c.*804A>T	XP_016880839.1:n.*804A>T
XM_017025352.1:c.640A>T	XP_016880841.1:p.Lys214Ter
XM_017025353.1:c.640A>T	XP_016880842.1:p.Lys214Ter
XM_017025354.1:c.608A>T	XP_016880843.1:p.Gln203Leu
XM_017025355.1:c.608A>T	XP_016880844.1:p.Gln203Leu
XM_017025356.1:c.*1117A>T	XP_016880845.1:n.*1117A>T
NM_004278.4:c.640A>T MANE Select	NP_004269.1:p.Lys214Ter