Canonical Allele Identifier: CA1430233616

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667223G= , CM000665.2:g.193667223G=	GRCh38
NC_000003.11:g.193385012G= , CM000665.1:g.193385012G=	GRCh37
NC_000003.10:g.194867706G=	NCBI36
NG_011605.1:g.79080G= , LRG_337:g.79080G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2926G= MANE Select	ENSP00000355324.2:p.Gly976=
ENST00000361828.7:c.2761G=	ENSP00000354429.3:p.Gly921=
ENST00000361908.8:c.2872G=	ENSP00000354681.3:p.Gly958=
ENST00000392436.7:c.2761G=	ENSP00000376231.3:p.Gly921=
ENST00000392437.6:c.2815G=	ENSP00000376232.2:p.Gly939=
ENST00000642289.1:c.2700G=
ENST00000642445.1:c.2761G=	ENSP00000495535.1:p.Gly921=
ENST00000642593.1:c.*986G=	ENSP00000494273.1:n.*986G=
ENST00000643329.1:c.2443G=	ENSP00000493673.1:p.Gly815=
ENST00000643737.1:c.*2842G=	ENSP00000494210.1:n.*2842G=
ENST00000644595.1:c.2761G=	ENSP00000494121.1:p.Gly921=
ENST00000644629.1:c.2348G=
ENST00000644841.1:c.*1245G=	ENSP00000493988.1:n.*1245G=
ENST00000644959.1:c.2755G=
ENST00000645553.1:c.2776G=	ENSP00000494725.1:p.Gly926=
ENST00000646085.1:c.*2239G=	ENSP00000494509.1:n.*2239G=
ENST00000646277.1:c.*1362G=	ENSP00000495289.1:n.*1362G=
ENST00000646544.1:c.1749G=
ENST00000646699.1:c.2700G=
ENST00000646793.1:c.2653G=	ENSP00000494512.1:p.Gly885=
ENST00000361150.6:c.2764G=	ENSP00000354781.2:p.Gly922=
ENST00000361510.6:c.2926G=	ENSP00000355324.2:p.Gly976=
ENST00000361715.6:c.2818G=	ENSP00000355311.2:p.Gly940=
ENST00000361828.6:c.2815G=	ENSP00000354429.2:p.Gly939=
ENST00000361908.7:c.2872G=	ENSP00000354681.3:p.Gly958=
ENST00000392438.7:c.2761G=	ENSP00000376233.3:p.Gly921=
ENST00000429164.1:c.48G=
ENST00000445863.1:c.337G=	ENSP00000398358.1:p.Gly113=
NM_015560.2:c.2761G= , LRG_337t1:c.2761G=	NP_056375.2:p.Gly921=
NM_130831.2:c.2653G=	NP_570844.1:p.Gly885=
NM_130832.2:c.2707G=	NP_570845.1:p.Gly903=
NM_130833.2:c.2764G=	NP_570846.1:p.Gly922=
NM_130834.2:c.2815G=	NP_570847.2:p.Gly939=
NM_130835.2:c.2818G=	NP_570848.1:p.Gly940=
NM_130836.2:c.2872G=	NP_570849.2:p.Gly958=
NM_130837.2:c.2926G= , LRG_337t2:c.2926G=	NP_570850.2:p.Gly976=
XM_011512863.1:c.2926G=	XP_011511165.1:p.Gly976=
XM_011512864.1:c.2872G=	XP_011511166.1:p.Gly958=
XM_011512865.1:c.2815G=	XP_011511167.1:p.Gly939=
XM_011512866.1:c.2764G=	XP_011511168.1:p.Gly922=
XM_011512867.1:c.2761G=	XP_011511169.1:p.Gly921=
XM_011512868.1:c.2653G=	XP_011511170.1:p.Gly885=
XR_924835.1:n.582+1697C=
NM_001354663.1:c.2392G=	NP_001341592.1:p.Gly798=
NM_001354664.1:c.2389G=	NP_001341593.1:p.Gly797=
XR_001740158.2:n.3180G=
XR_001740159.2:n.3015G=
XR_001741072.1:n.600+1697C=
XR_001741074.1:n.475+3585C=
XR_924835.2:n.600+1697C=
NM_001354663.2:c.2392G=	NP_001341592.1:p.Gly798=
NM_001354664.2:c.2389G=	NP_001341593.1:p.Gly797=
NM_130831.3:c.2653G=	NP_570844.1:p.Gly885=
NM_130832.3:c.2707G=	NP_570845.1:p.Gly903=
NM_130834.3:c.2815G=	NP_570847.2:p.Gly939=
NM_130836.3:c.2872G=	NP_570849.2:p.Gly958=
NM_015560.3:c.2761G=	NP_056375.2:p.Gly921=
NM_130833.3:c.2764G=	NP_570846.1:p.Gly922=
NM_130835.3:c.2818G=	NP_570848.1:p.Gly940=
NM_130837.3:c.2926G= MANE Select	NP_570850.2:p.Gly976=