Canonical Allele Identifier: CA376027578

Gene: OPTN

Linked Data

• dbSNP Id: rs1832969792
• gnomAD v4: 10-13110396-C-A
• MyVariant Identifiers: chr10:g.13152396C>A (hg19) ; chr10:g.13110396C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13110396C>A , CM000672.2:g.13110396C>A	GRCh38
NC_000010.10:g.13152396C>A , CM000672.1:g.13152396C>A	GRCh37
NC_000010.9:g.13192402C>A	NCBI36
NG_012876.1:g.15315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.289C>A MANE Select	ENSP00000368021.3:p.Leu97Ile
ENST00000263036.9:c.289C>A	ENSP00000263036.3:p.Leu97Ile
ENST00000378747.7:c.289C>A	ENSP00000368021.3:p.Leu97Ile
ENST00000378748.7:c.289C>A	ENSP00000368022.3:p.Leu97Ile
ENST00000378752.7:c.289C>A	ENSP00000368027.3:p.Leu97Ile
ENST00000378757.6:c.289C>A	ENSP00000368032.2:p.Leu97Ile
ENST00000378764.6:c.289C>A	ENSP00000368040.1:p.Leu97Ile
ENST00000430081.5:c.*194C>A	ENSP00000414747.2:n.*194C>A
ENST00000482140.5:c.166+1108C>A	ENSP00000484961.1:n.166+1108C>A
NM_001008211.1:c.289C>A	NP_001008212.1:p.Leu97Ile
NM_001008212.1:c.289C>A	NP_001008213.1:p.Leu97Ile
NM_001008213.1:c.289C>A	NP_001008214.1:p.Leu97Ile
NM_021980.4:c.289C>A	NP_068815.2:p.Leu97Ile
XM_005252336.2:c.289C>A	XP_005252393.2:p.Leu97Ile
XM_005252337.3:c.289C>A	XP_005252394.2:p.Leu97Ile
XM_005252338.2:c.118C>A	XP_005252395.2:p.Leu40Ile
NM_001008212.2:c.289C>A MANE Select	NP_001008213.1:p.Leu97Ile