Canonical Allele Identifier: CA5410767

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13122472G>C , CM000672.2:g.13122472G>C	GRCh38
NC_000010.10:g.13164472G>C , CM000672.1:g.13164472G>C	GRCh37
NC_000010.9:g.13204478G>C	NCBI36
NG_012876.1:g.27391G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001008212.2:c.867G>C MANE Select	NP_001008213.1:p.Glu289Asp
ENST00000378747.8:c.867G>C MANE Select	ENSP00000368021.3:p.Glu289Asp
NM_001008211.1:c.867G>C	NP_001008212.1:p.Glu289Asp
NM_001008212.1:c.867G>C	NP_001008213.1:p.Glu289Asp
NM_001008213.1:c.867G>C	NP_001008214.1:p.Glu289Asp
NM_021980.4:c.867G>C	NP_068815.2:p.Glu289Asp
ENST00000263036.9:c.867G>C	ENSP00000263036.3:p.Glu289Asp
ENST00000378747.7:c.867G>C	ENSP00000368021.3:p.Glu289Asp
ENST00000378748.7:c.867G>C	ENSP00000368022.3:p.Glu289Asp
ENST00000378752.7:c.849G>C	ENSP00000368027.3:p.Glu283Asp
ENST00000378757.6:c.867G>C	ENSP00000368032.2:p.Glu289Asp
ENST00000378764.6:c.849G>C	ENSP00000368040.1:p.Glu283Asp
ENST00000424614.1:c.314G>C
XM_005252336.2:c.849G>C	XP_005252393.2:p.Glu283Asp
XM_005252337.3:c.849G>C	XP_005252394.2:p.Glu283Asp
XM_005252338.2:c.696G>C	XP_005252395.2:p.Glu232Asp