Canonical Allele Identifier: CA1430236636

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637980G= , CM000665.2:g.193637980G=	GRCh38
NC_000003.11:g.193355769G= , CM000665.1:g.193355769G=	GRCh37
NC_000003.10:g.194838463G=	NCBI36
NG_011605.1:g.49837G= , LRG_337:g.49837G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1064G= MANE Select	ENSP00000355324.2:p.Gly355=
ENST00000361828.7:c.899G=	ENSP00000354429.3:p.Gly300=
ENST00000361908.8:c.1010G=	ENSP00000354681.3:p.Gly337=
ENST00000392436.7:c.899G=	ENSP00000376231.3:p.Gly300=
ENST00000392437.6:c.953G=	ENSP00000376232.2:p.Gly318=
ENST00000642289.1:c.994G=
ENST00000642445.1:c.899G=	ENSP00000495535.1:p.Gly300=
ENST00000642593.1:c.899G=	ENSP00000494273.1:p.Gly300=
ENST00000643329.1:c.581G=	ENSP00000493673.1:p.Gly194=
ENST00000643737.1:c.*980G=	ENSP00000494210.1:n.*980G=
ENST00000644595.1:c.899G=	ENSP00000494121.1:p.Gly300=
ENST00000644629.1:c.559G=
ENST00000644841.1:c.527G=	ENSP00000493988.1:p.Gly176=
ENST00000644959.1:c.868G=
ENST00000645553.1:c.914G=	ENSP00000494725.1:p.Gly305=
ENST00000646085.1:c.*377G=	ENSP00000494509.1:n.*377G=
ENST00000646277.1:c.1064G=	ENSP00000495289.1:p.Gly355=
ENST00000646699.1:c.994G=
ENST00000646793.1:c.791G=	ENSP00000494512.1:p.Gly264=
ENST00000361150.6:c.902G=	ENSP00000354781.2:p.Gly301=
ENST00000361510.6:c.1064G=	ENSP00000355324.2:p.Gly355=
ENST00000361715.6:c.956G=	ENSP00000355311.2:p.Gly319=
ENST00000361828.6:c.953G=	ENSP00000354429.2:p.Gly318=
ENST00000361908.7:c.1010G=	ENSP00000354681.3:p.Gly337=
ENST00000392438.7:c.899G=	ENSP00000376233.3:p.Gly300=
ENST00000475899.1:n.95G=
ENST00000495476.1:n.420G=
ENST00000497189.5:n.385G=
NM_015560.2:c.899G= , LRG_337t1:c.899G=	NP_056375.2:p.Gly300=
NM_130831.2:c.791G=	NP_570844.1:p.Gly264=
NM_130832.2:c.845G=	NP_570845.1:p.Gly282=
NM_130833.2:c.902G=	NP_570846.1:p.Gly301=
NM_130834.2:c.953G=	NP_570847.2:p.Gly318=
NM_130835.2:c.956G=	NP_570848.1:p.Gly319=
NM_130836.2:c.1010G=	NP_570849.2:p.Gly337=
NM_130837.2:c.1064G= , LRG_337t2:c.1064G=	NP_570850.2:p.Gly355=
XM_011512863.1:c.1064G=	XP_011511165.1:p.Gly355=
XM_011512864.1:c.1010G=	XP_011511166.1:p.Gly337=
XM_011512865.1:c.953G=	XP_011511167.1:p.Gly318=
XM_011512866.1:c.902G=	XP_011511168.1:p.Gly301=
XM_011512867.1:c.899G=	XP_011511169.1:p.Gly300=
XM_011512868.1:c.791G=	XP_011511170.1:p.Gly264=
XM_011512869.1:c.1064G=	XP_011511171.1:p.Gly355=
NM_001354663.1:c.530G=	NP_001341592.1:p.Gly177=
NM_001354664.1:c.527G=	NP_001341593.1:p.Gly176=
XR_001740158.2:n.1293G=
XR_001740159.2:n.1128G=
NM_001354663.2:c.530G=	NP_001341592.1:p.Gly177=
NM_001354664.2:c.527G=	NP_001341593.1:p.Gly176=
NM_130831.3:c.791G=	NP_570844.1:p.Gly264=
NM_130832.3:c.845G=	NP_570845.1:p.Gly282=
NM_130834.3:c.953G=	NP_570847.2:p.Gly318=
NM_130836.3:c.1010G=	NP_570849.2:p.Gly337=
NM_015560.3:c.899G=	NP_056375.2:p.Gly300=
NM_130833.3:c.902G=	NP_570846.1:p.Gly301=
NM_130835.3:c.956G=	NP_570848.1:p.Gly319=
NM_130837.3:c.1064G= MANE Select	NP_570850.2:p.Gly355=