Canonical Allele Identifier: CA398480368

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16221165G>C (hg19) ; chr17:g.16317851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317851G>C , CM000679.2:g.16317851G>C	GRCh38
NC_000017.10:g.16221165G>C , CM000679.1:g.16221165G>C	GRCh37
NC_000017.9:g.16161890G>C	NCBI36
NG_032651.1:g.105657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.603G>C MANE Select	ENSP00000225609.5:p.Leu201=
ENST00000225609.9:c.603G>C	ENSP00000225609.5:p.Leu201=
ENST00000395844.8:c.571G>C	ENSP00000379185.3:p.Ala191Pro
ENST00000477745.5:n.601G>C
ENST00000488375.2:n.461G>C
ENST00000581006.5:c.426+17873G>C	ENSP00000462432.1:n.426+17873G>C
ENST00000596678.2:c.145G>C	ENSP00000470064.2:p.Ala49Pro
ENST00000613719.1:n.987+163G>C
NM_004278.3:c.603G>C	NP_004269.1:p.Leu201=
XR_243571.2:n.1601G>C
XR_429826.2:n.1048G>C
XM_017025349.1:c.*767G>C	XP_016880838.1:n.*767G>C
XM_017025350.1:c.*767G>C	XP_016880839.1:n.*767G>C
XM_017025351.1:c.*214G>C	XP_016880840.1:n.*214G>C
XM_017025352.1:c.603G>C	XP_016880841.1:p.Leu201=
XM_017025353.1:c.603G>C	XP_016880842.1:p.Leu201=
XM_017025354.1:c.571G>C	XP_016880843.1:p.Ala191Pro
XM_017025355.1:c.571G>C	XP_016880844.1:p.Ala191Pro
XM_017025356.1:c.*1080G>C	XP_016880845.1:n.*1080G>C
NM_004278.4:c.603G>C MANE Select	NP_004269.1:p.Leu201=