Canonical Allele Identifier: CA1891467735

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13124079G= , CM000672.2:g.13124079G=	GRCh38
NC_000010.10:g.13166079G= , CM000672.1:g.13166079G=	GRCh37
NC_000010.9:g.13206085G=	NCBI36
NG_012876.1:g.28998G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.967G= MANE Select	ENSP00000368021.3:p.Ala323=
ENST00000263036.9:c.967G=	ENSP00000263036.3:p.Ala323=
ENST00000378747.7:c.967G=	ENSP00000368021.3:p.Ala323=
ENST00000378748.7:c.967G=	ENSP00000368022.3:p.Ala323=
ENST00000378752.7:c.949G=	ENSP00000368027.3:p.Ala317=
ENST00000378757.6:c.967G=	ENSP00000368032.2:p.Ala323=
ENST00000378764.6:c.949G=	ENSP00000368040.1:p.Ala317=
NM_001008211.1:c.967G=	NP_001008212.1:p.Ala323=
NM_001008212.1:c.967G=	NP_001008213.1:p.Ala323=
NM_001008213.1:c.967G=	NP_001008214.1:p.Ala323=
NM_021980.4:c.967G=	NP_068815.2:p.Ala323=
XM_005252336.2:c.949G=	XP_005252393.2:p.Ala317=
XM_005252337.3:c.949G=	XP_005252394.2:p.Ala317=
XM_005252338.2:c.796G=	XP_005252395.2:p.Ala266=
NM_001008212.2:c.967G= MANE Select	NP_001008213.1:p.Ala323=