Canonical Allele Identifier: CA1430236669

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637999A= , CM000665.2:g.193637999A=	GRCh38
NC_000003.11:g.193355788A= , CM000665.1:g.193355788A=	GRCh37
NC_000003.10:g.194838482A=	NCBI36
NG_011605.1:g.49856A= , LRG_337:g.49856A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1083A= MANE Select	ENSP00000355324.2:p.Glu361=
ENST00000361828.7:c.918A=	ENSP00000354429.3:p.Glu306=
ENST00000361908.8:c.1029A=	ENSP00000354681.3:p.Glu343=
ENST00000392436.7:c.918A=	ENSP00000376231.3:p.Glu306=
ENST00000392437.6:c.972A=	ENSP00000376232.2:p.Glu324=
ENST00000642289.1:c.1013A=
ENST00000642445.1:c.918A=	ENSP00000495535.1:p.Glu306=
ENST00000642593.1:c.918A=	ENSP00000494273.1:p.Glu306=
ENST00000643329.1:c.600A=	ENSP00000493673.1:p.Glu200=
ENST00000643737.1:c.*999A=	ENSP00000494210.1:n.*999A=
ENST00000644595.1:c.918A=	ENSP00000494121.1:p.Glu306=
ENST00000644629.1:c.578A=
ENST00000644841.1:c.546A=	ENSP00000493988.1:p.Glu182=
ENST00000644959.1:c.887A=
ENST00000645553.1:c.933A=	ENSP00000494725.1:p.Glu311=
ENST00000646085.1:c.*396A=	ENSP00000494509.1:n.*396A=
ENST00000646277.1:c.1083A=	ENSP00000495289.1:p.Glu361=
ENST00000646699.1:c.1013A=
ENST00000646793.1:c.810A=	ENSP00000494512.1:p.Glu270=
ENST00000361150.6:c.921A=	ENSP00000354781.2:p.Glu307=
ENST00000361510.6:c.1083A=	ENSP00000355324.2:p.Glu361=
ENST00000361715.6:c.975A=	ENSP00000355311.2:p.Glu325=
ENST00000361828.6:c.972A=	ENSP00000354429.2:p.Glu324=
ENST00000361908.7:c.1029A=	ENSP00000354681.3:p.Glu343=
ENST00000392438.7:c.918A=	ENSP00000376233.3:p.Glu306=
ENST00000475899.1:n.114A=
ENST00000495476.1:n.439A=
ENST00000497189.5:n.404A=
NM_015560.2:c.918A= , LRG_337t1:c.918A=	NP_056375.2:p.Glu306=
NM_130831.2:c.810A=	NP_570844.1:p.Glu270=
NM_130832.2:c.864A=	NP_570845.1:p.Glu288=
NM_130833.2:c.921A=	NP_570846.1:p.Glu307=
NM_130834.2:c.972A=	NP_570847.2:p.Glu324=
NM_130835.2:c.975A=	NP_570848.1:p.Glu325=
NM_130836.2:c.1029A=	NP_570849.2:p.Glu343=
NM_130837.2:c.1083A= , LRG_337t2:c.1083A=	NP_570850.2:p.Glu361=
XM_011512863.1:c.1083A=	XP_011511165.1:p.Glu361=
XM_011512864.1:c.1029A=	XP_011511166.1:p.Glu343=
XM_011512865.1:c.972A=	XP_011511167.1:p.Glu324=
XM_011512866.1:c.921A=	XP_011511168.1:p.Glu307=
XM_011512867.1:c.918A=	XP_011511169.1:p.Glu306=
XM_011512868.1:c.810A=	XP_011511170.1:p.Glu270=
XM_011512869.1:c.1083A=	XP_011511171.1:p.Glu361=
NM_001354663.1:c.549A=	NP_001341592.1:p.Glu183=
NM_001354664.1:c.546A=	NP_001341593.1:p.Glu182=
XR_001740158.2:n.1312A=
XR_001740159.2:n.1147A=
NM_001354663.2:c.549A=	NP_001341592.1:p.Glu183=
NM_001354664.2:c.546A=	NP_001341593.1:p.Glu182=
NM_130831.3:c.810A=	NP_570844.1:p.Glu270=
NM_130832.3:c.864A=	NP_570845.1:p.Glu288=
NM_130834.3:c.972A=	NP_570847.2:p.Glu324=
NM_130836.3:c.1029A=	NP_570849.2:p.Glu343=
NM_015560.3:c.918A=	NP_056375.2:p.Glu306=
NM_130833.3:c.921A=	NP_570846.1:p.Glu307=
NM_130835.3:c.975A=	NP_570848.1:p.Glu325=
NM_130837.3:c.1083A= MANE Select	NP_570850.2:p.Glu361=