Canonical Allele Identifier: CA288207674

Gene: PIGL

Linked Data

• dbSNP Id: rs1019306622
• gnomAD v4: 17-16299974-A-G
• MyVariant Identifiers: chr17:g.16203288A>G (hg19) ; chr17:g.16299974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16299974A>G , CM000679.2:g.16299974A>G	GRCh38
NC_000017.10:g.16203288A>G , CM000679.1:g.16203288A>G	GRCh37
NC_000017.9:g.16144013A>G	NCBI36
NG_032651.1:g.87780A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.422A>G MANE Select	ENSP00000225609.5:p.Asn141Ser
ENST00000225609.9:c.422A>G	ENSP00000225609.5:p.Asn141Ser
ENST00000395844.8:c.422A>G	ENSP00000379185.3:p.Asn141Ser
ENST00000477745.5:n.420A>G
ENST00000498772.6:n.439A>G
ENST00000581006.5:c.422A>G	ENSP00000462432.1:p.Asn141Ser
ENST00000584797.5:c.422A>G	ENSP00000463540.1:p.Asn141Ser
ENST00000585034.5:c.*16A>G	ENSP00000464424.1:n.*16A>G
ENST00000607144.4:n.458A>G
NM_004278.3:c.422A>G	NP_004269.1:p.Asn141Ser
XM_011524080.1:c.422A>G	XP_011522382.1:p.Asn141Ser
XR_243571.2:n.440A>G
XR_429826.2:n.440A>G
XM_011524080.2:c.422A>G	XP_011522382.1:p.Asn141Ser
XM_017025349.1:c.422A>G	XP_016880838.1:p.Asn141Ser
XM_017025350.1:c.422A>G	XP_016880839.1:p.Asn141Ser
XM_017025351.1:c.422A>G	XP_016880840.1:p.Asn141Ser
XM_017025352.1:c.422A>G	XP_016880841.1:p.Asn141Ser
XM_017025353.1:c.422A>G	XP_016880842.1:p.Asn141Ser
XM_017025354.1:c.422A>G	XP_016880843.1:p.Asn141Ser
XM_017025355.1:c.422A>G	XP_016880844.1:p.Asn141Ser
XM_017025356.1:c.422A>G	XP_016880845.1:p.Asn141Ser
NM_004278.4:c.422A>G MANE Select	NP_004269.1:p.Asn141Ser