Canonical Allele Identifier: CA376029657

Gene: OPTN

Linked Data

• ClinVar Variation Id: 1917899
• ClinVar RCV Id: RCV002601689 ; RCV003130726
• MyVariant Identifiers: chr10:g.13167992G>T (hg19) ; chr10:g.13125992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13125992G>T , CM000672.2:g.13125992G>T	GRCh38
NC_000010.10:g.13167992G>T , CM000672.1:g.13167992G>T	GRCh37
NC_000010.9:g.13207998G>T	NCBI36
NG_012876.1:g.30911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1195G>T MANE Select	ENSP00000368021.3:p.Glu399Ter
ENST00000263036.9:c.1195G>T	ENSP00000263036.3:p.Glu399Ter
ENST00000378747.7:c.1195G>T	ENSP00000368021.3:p.Glu399Ter
ENST00000378748.7:c.1195G>T	ENSP00000368022.3:p.Glu399Ter
ENST00000378752.7:c.1177G>T	ENSP00000368027.3:p.Glu393Ter
ENST00000378757.6:c.1195G>T	ENSP00000368032.2:p.Glu399Ter
ENST00000378764.6:c.1177G>T	ENSP00000368040.1:p.Glu393Ter
NM_001008211.1:c.1195G>T	NP_001008212.1:p.Glu399Ter
NM_001008212.1:c.1195G>T	NP_001008213.1:p.Glu399Ter
NM_001008213.1:c.1195G>T	NP_001008214.1:p.Glu399Ter
NM_021980.4:c.1195G>T	NP_068815.2:p.Glu399Ter
XM_005252336.2:c.1177G>T	XP_005252393.2:p.Glu393Ter
XM_005252337.3:c.1177G>T	XP_005252394.2:p.Glu393Ter
XM_005252338.2:c.1024G>T	XP_005252395.2:p.Glu342Ter
NM_001008212.2:c.1195G>T MANE Select	NP_001008213.1:p.Glu399Ter