Canonical Allele Identifier: CA398480421

Gene: PIGL

Linked Data

• dbSNP Id: rs1196756323
• gnomAD v2: 17-16221185-T-C
• gnomAD v4: 17-16317871-T-C
• MyVariant Identifiers: chr17:g.16221185T>C (hg19) ; chr17:g.16317871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317871T>C , CM000679.2:g.16317871T>C	GRCh38
NC_000017.10:g.16221185T>C , CM000679.1:g.16221185T>C	GRCh37
NC_000017.9:g.16161910T>C	NCBI36
NG_032651.1:g.105677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.623T>C MANE Select	ENSP00000225609.5:p.Leu208Pro
ENST00000225609.9:c.623T>C	ENSP00000225609.5:p.Leu208Pro
ENST00000395844.8:c.591T>C	ENSP00000379185.3:p.Pro197=
ENST00000477745.5:n.621T>C
ENST00000488375.2:n.481T>C
ENST00000581006.5:c.426+17893T>C	ENSP00000462432.1:n.426+17893T>C
ENST00000596678.2:c.165T>C	ENSP00000470064.2:p.Pro55=
ENST00000613719.1:n.987+183T>C
NM_004278.3:c.623T>C	NP_004269.1:p.Leu208Pro
XR_243571.2:n.1621T>C
XM_017025349.1:c.*787T>C	XP_016880838.1:n.*787T>C
XM_017025350.1:c.*787T>C	XP_016880839.1:n.*787T>C
XM_017025352.1:c.623T>C	XP_016880841.1:p.Leu208Pro
XM_017025353.1:c.623T>C	XP_016880842.1:p.Leu208Pro
XM_017025354.1:c.591T>C	XP_016880843.1:p.Pro197=
XM_017025355.1:c.591T>C	XP_016880844.1:p.Pro197=
XM_017025356.1:c.*1100T>C	XP_016880845.1:n.*1100T>C
NM_004278.4:c.623T>C MANE Select	NP_004269.1:p.Leu208Pro