Canonical Allele Identifier: CA1891456316

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13110394G= , CM000672.2:g.13110394G=	GRCh38
NC_000010.10:g.13152394G= , CM000672.1:g.13152394G=	GRCh37
NC_000010.9:g.13192400G=	NCBI36
NG_012876.1:g.15313G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.287G= MANE Select	ENSP00000368021.3:p.Arg96=
ENST00000263036.9:c.287G=	ENSP00000263036.3:p.Arg96=
ENST00000378747.7:c.287G=	ENSP00000368021.3:p.Arg96=
ENST00000378748.7:c.287G=	ENSP00000368022.3:p.Arg96=
ENST00000378752.7:c.287G=	ENSP00000368027.3:p.Arg96=
ENST00000378757.6:c.287G=	ENSP00000368032.2:p.Arg96=
ENST00000378764.6:c.287G=	ENSP00000368040.1:p.Arg96=
ENST00000430081.5:c.*192G=	ENSP00000414747.2:n.*192G=
ENST00000482140.5:c.166+1106G=	ENSP00000484961.1:n.166+1106G=
NM_001008211.1:c.287G=	NP_001008212.1:p.Arg96=
NM_001008212.1:c.287G=	NP_001008213.1:p.Arg96=
NM_001008213.1:c.287G=	NP_001008214.1:p.Arg96=
NM_021980.4:c.287G=	NP_068815.2:p.Arg96=
XM_005252336.2:c.287G=	XP_005252393.2:p.Arg96=
XM_005252337.3:c.287G=	XP_005252394.2:p.Arg96=
XM_005252338.2:c.116G=	XP_005252395.2:p.Arg39=
NM_001008212.2:c.287G= MANE Select	NP_001008213.1:p.Arg96=