Canonical Allele Identifier: CA1891467669

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13124053A= , CM000672.2:g.13124053A=	GRCh38
NC_000010.10:g.13166053A= , CM000672.1:g.13166053A=	GRCh37
NC_000010.9:g.13206059A=	NCBI36
NG_012876.1:g.28972A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.941A= MANE Select	ENSP00000368021.3:p.Gln314=
ENST00000263036.9:c.941A=	ENSP00000263036.3:p.Gln314=
ENST00000378747.7:c.941A=	ENSP00000368021.3:p.Gln314=
ENST00000378748.7:c.941A=	ENSP00000368022.3:p.Gln314=
ENST00000378752.7:c.923A=	ENSP00000368027.3:p.Gln308=
ENST00000378757.6:c.941A=	ENSP00000368032.2:p.Gln314=
ENST00000378764.6:c.923A=	ENSP00000368040.1:p.Gln308=
NM_001008211.1:c.941A=	NP_001008212.1:p.Gln314=
NM_001008212.1:c.941A=	NP_001008213.1:p.Gln314=
NM_001008213.1:c.941A=	NP_001008214.1:p.Gln314=
NM_021980.4:c.941A=	NP_068815.2:p.Gln314=
XM_005252336.2:c.923A=	XP_005252393.2:p.Gln308=
XM_005252337.3:c.923A=	XP_005252394.2:p.Gln308=
XM_005252338.2:c.770A=	XP_005252395.2:p.Gln257=
NM_001008212.2:c.941A= MANE Select	NP_001008213.1:p.Gln314=