Canonical Allele Identifier: CA376028256

Gene: OPTN

Linked Data

• ClinVar Variation Id: 1972747
• ClinVar RCV Id: RCV002730747
• MyVariant Identifiers: chr10:g.13158305T>G (hg19) ; chr10:g.13116305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13116305T>G , CM000672.2:g.13116305T>G	GRCh38
NC_000010.10:g.13158305T>G , CM000672.1:g.13158305T>G	GRCh37
NC_000010.9:g.13198311T>G	NCBI36
NG_012876.1:g.21224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.591T>G MANE Select	ENSP00000368021.3:p.His197Gln
ENST00000263036.9:c.591T>G	ENSP00000263036.3:p.His197Gln
ENST00000378747.7:c.591T>G	ENSP00000368021.3:p.His197Gln
ENST00000378748.7:c.591T>G	ENSP00000368022.3:p.His197Gln
ENST00000378752.7:c.591T>G	ENSP00000368027.3:p.His197Gln
ENST00000378757.6:c.591T>G	ENSP00000368032.2:p.His197Gln
ENST00000378764.6:c.591T>G	ENSP00000368040.1:p.His197Gln
ENST00000424614.1:c.38T>G
ENST00000430081.5:c.*496T>G	ENSP00000414747.2:n.*496T>G
ENST00000482140.5:c.*211T>G	ENSP00000484961.1:n.*211T>G
ENST00000486862.1:c.188T>G
NM_001008211.1:c.591T>G	NP_001008212.1:p.His197Gln
NM_001008212.1:c.591T>G	NP_001008213.1:p.His197Gln
NM_001008213.1:c.591T>G	NP_001008214.1:p.His197Gln
NM_021980.4:c.591T>G	NP_068815.2:p.His197Gln
XM_005252336.2:c.591T>G	XP_005252393.2:p.His197Gln
XM_005252337.3:c.591T>G	XP_005252394.2:p.His197Gln
XM_005252338.2:c.420T>G	XP_005252395.2:p.His140Gln
NM_001008212.2:c.591T>G MANE Select	NP_001008213.1:p.His197Gln