Canonical Allele Identifier: CA1430243601

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642798C= , CM000665.2:g.193642798C=	GRCh38
NC_000003.11:g.193360587C= , CM000665.1:g.193360587C=	GRCh37
NC_000003.10:g.194843281C=	NCBI36
NG_011605.1:g.54655C= , LRG_337:g.54655C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1183C= MANE Select	ENSP00000355324.2:p.Leu395=
ENST00000361828.7:c.1018C=	ENSP00000354429.3:p.Leu340=
ENST00000361908.8:c.1129C=	ENSP00000354681.3:p.Leu377=
ENST00000392436.7:c.1018C=	ENSP00000376231.3:p.Leu340=
ENST00000392437.6:c.1072C=	ENSP00000376232.2:p.Leu358=
ENST00000642289.1:c.1080-575C=
ENST00000642445.1:c.1018C=	ENSP00000495535.1:p.Leu340=
ENST00000642593.1:c.1018C=	ENSP00000494273.1:p.Leu340=
ENST00000643329.1:c.700C=	ENSP00000493673.1:p.Leu234=
ENST00000643737.1:c.*1099C=	ENSP00000494210.1:n.*1099C=
ENST00000644595.1:c.1018C=	ENSP00000494121.1:p.Leu340=
ENST00000644629.1:c.678C=
ENST00000644841.1:c.646C=	ENSP00000493988.1:p.Leu216=
ENST00000644959.1:c.987C=
ENST00000645553.1:c.1033C=	ENSP00000494725.1:p.Leu345=
ENST00000646085.1:c.*496C=	ENSP00000494509.1:n.*496C=
ENST00000646277.1:c.1183C=	ENSP00000495289.1:p.Leu395=
ENST00000646544.1:c.81C=
ENST00000646699.1:c.1080-575C=
ENST00000646793.1:c.910C=	ENSP00000494512.1:p.Leu304=
ENST00000361150.6:c.1021C=	ENSP00000354781.2:p.Leu341=
ENST00000361510.6:c.1183C=	ENSP00000355324.2:p.Leu395=
ENST00000361715.6:c.1075C=	ENSP00000355311.2:p.Leu359=
ENST00000361828.6:c.1072C=	ENSP00000354429.2:p.Leu358=
ENST00000361908.7:c.1129C=	ENSP00000354681.3:p.Leu377=
ENST00000392438.7:c.1018C=	ENSP00000376233.3:p.Leu340=
ENST00000475899.1:n.214C=
ENST00000497189.5:n.504C=
NM_015560.2:c.1018C= , LRG_337t1:c.1018C=	NP_056375.2:p.Leu340=
NM_130831.2:c.910C=	NP_570844.1:p.Leu304=
NM_130832.2:c.964C=	NP_570845.1:p.Leu322=
NM_130833.2:c.1021C=	NP_570846.1:p.Leu341=
NM_130834.2:c.1072C=	NP_570847.2:p.Leu358=
NM_130835.2:c.1075C=	NP_570848.1:p.Leu359=
NM_130836.2:c.1129C=	NP_570849.2:p.Leu377=
NM_130837.2:c.1183C= , LRG_337t2:c.1183C=	NP_570850.2:p.Leu395=
XM_011512863.1:c.1183C=	XP_011511165.1:p.Leu395=
XM_011512864.1:c.1129C=	XP_011511166.1:p.Leu377=
XM_011512865.1:c.1072C=	XP_011511167.1:p.Leu358=
XM_011512866.1:c.1021C=	XP_011511168.1:p.Leu341=
XM_011512867.1:c.1018C=	XP_011511169.1:p.Leu340=
XM_011512868.1:c.910C=	XP_011511170.1:p.Leu304=
XM_011512869.1:c.1183C=	XP_011511171.1:p.Leu395=
NM_001354663.1:c.649C=	NP_001341592.1:p.Leu217=
NM_001354664.1:c.646C=	NP_001341593.1:p.Leu216=
XR_001740158.2:n.1412C=
XR_001740159.2:n.1247C=
NM_001354663.2:c.649C=	NP_001341592.1:p.Leu217=
NM_001354664.2:c.646C=	NP_001341593.1:p.Leu216=
NM_130831.3:c.910C=	NP_570844.1:p.Leu304=
NM_130832.3:c.964C=	NP_570845.1:p.Leu322=
NM_130834.3:c.1072C=	NP_570847.2:p.Leu358=
NM_130836.3:c.1129C=	NP_570849.2:p.Leu377=
NM_015560.3:c.1018C=	NP_056375.2:p.Leu340=
NM_130833.3:c.1021C=	NP_570846.1:p.Leu341=
NM_130835.3:c.1075C=	NP_570848.1:p.Leu359=
NM_130837.3:c.1183C= MANE Select	NP_570850.2:p.Leu395=