Canonical Allele Identifier: CA398479652

Gene: PIGL

Linked Data

• ClinVar Variation Id: 1687204
• ClinVar RCV Id: RCV002250886
• dbSNP Id: rs1064795400
• gnomAD v4: 17-16233997-C-G
• MyVariant Identifiers: chr17:g.16137311C>G (hg19) ; chr17:g.16233997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16233997C>G , CM000679.2:g.16233997C>G	GRCh38
NC_000017.10:g.16137311C>G , CM000679.1:g.16137311C>G	GRCh37
NC_000017.9:g.16078036C>G	NCBI36
NG_032651.1:g.21803C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.262C>G MANE Select	ENSP00000225609.5:p.Arg88Gly
ENST00000225609.9:c.262C>G	ENSP00000225609.5:p.Arg88Gly
ENST00000395844.8:c.262C>G	ENSP00000379185.3:p.Arg88Gly
ENST00000470116.2:c.262C>G	ENSP00000463754.1:p.Arg88Gly
ENST00000477745.5:n.260C>G
ENST00000489009.1:n.252C>G
ENST00000498772.6:n.279C>G
ENST00000581006.5:c.262C>G	ENSP00000462432.1:p.Arg88Gly
ENST00000584797.5:c.262C>G	ENSP00000463540.1:p.Arg88Gly
ENST00000585034.5:c.235+16536C>G	ENSP00000464424.1:n.235+16536C>G
ENST00000607144.4:n.298C>G
NM_004278.3:c.262C>G	NP_004269.1:p.Arg88Gly
XM_011524080.1:c.262C>G	XP_011522382.1:p.Arg88Gly
XR_243571.2:n.280C>G
XR_429826.2:n.280C>G
XM_011524080.2:c.262C>G	XP_011522382.1:p.Arg88Gly
XM_017025349.1:c.262C>G	XP_016880838.1:p.Arg88Gly
XM_017025350.1:c.262C>G	XP_016880839.1:p.Arg88Gly
XM_017025351.1:c.262C>G	XP_016880840.1:p.Arg88Gly
XM_017025352.1:c.262C>G	XP_016880841.1:p.Arg88Gly
XM_017025353.1:c.262C>G	XP_016880842.1:p.Arg88Gly
XM_017025354.1:c.262C>G	XP_016880843.1:p.Arg88Gly
XM_017025355.1:c.262C>G	XP_016880844.1:p.Arg88Gly
XM_017025356.1:c.262C>G	XP_016880845.1:p.Arg88Gly
NM_004278.4:c.262C>G MANE Select	NP_004269.1:p.Arg88Gly