Canonical Allele Identifier: CA8409915

Gene: PIGL

Linked Data

• dbSNP Id: rs760922815
• ExAC: 17:16216896 C / G
• gnomAD v2: 17-16216896-C-G
• gnomAD v4: 17-16313582-C-G
• MyVariant Identifiers: chr17:g.16216896C>G (hg19) ; chr17:g.16313582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313582C>G , CM000679.2:g.16313582C>G	GRCh38
NC_000017.10:g.16216896C>G , CM000679.1:g.16216896C>G	GRCh37
NC_000017.9:g.16157621C>G	NCBI36
NG_032651.1:g.101388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.462C>G MANE Select	ENSP00000225609.5:p.His154Gln
ENST00000225609.9:c.462C>G	ENSP00000225609.5:p.His154Gln
ENST00000395844.8:c.462C>G	ENSP00000379185.3:p.His154Gln
ENST00000477745.5:n.460C>G
ENST00000498772.6:n.479C>G
ENST00000580201.1:n.474C>G
ENST00000581006.5:c.426+13604C>G	ENSP00000462432.1:n.426+13604C>G
ENST00000584797.5:c.462C>G	ENSP00000463540.1:p.His154Gln
ENST00000585034.5:c.*56C>G	ENSP00000464424.1:n.*56C>G
ENST00000596678.2:c.36C>G	ENSP00000470064.2:p.His12Gln
NM_004278.3:c.462C>G	NP_004269.1:p.His154Gln
XM_011524080.1:c.462C>G	XP_011522382.1:p.His154Gln
XR_243571.2:n.480C>G
XR_429826.2:n.480C>G
XM_011524080.2:c.462C>G	XP_011522382.1:p.His154Gln
XM_017025349.1:c.462C>G	XP_016880838.1:p.His154Gln
XM_017025350.1:c.462C>G	XP_016880839.1:p.His154Gln
XM_017025351.1:c.462C>G	XP_016880840.1:p.His154Gln
XM_017025352.1:c.462C>G	XP_016880841.1:p.His154Gln
XM_017025353.1:c.462C>G	XP_016880842.1:p.His154Gln
XM_017025354.1:c.462C>G	XP_016880843.1:p.His154Gln
XM_017025355.1:c.462C>G	XP_016880844.1:p.His154Gln
XM_017025356.1:c.462C>G	XP_016880845.1:p.His154Gln
NM_004278.4:c.462C>G MANE Select	NP_004269.1:p.His154Gln