Canonical Allele Identifier: CA1430233485

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667180A= , CM000665.2:g.193667180A=	GRCh38
NC_000003.11:g.193384969A= , CM000665.1:g.193384969A=	GRCh37
NC_000003.10:g.194867663A=	NCBI36
NG_011605.1:g.79037A= , LRG_337:g.79037A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2883A= MANE Select	ENSP00000355324.2:p.Leu961=
ENST00000361828.7:c.2718A=	ENSP00000354429.3:p.Leu906=
ENST00000361908.8:c.2829A=	ENSP00000354681.3:p.Leu943=
ENST00000392436.7:c.2718A=	ENSP00000376231.3:p.Leu906=
ENST00000392437.6:c.2772A=	ENSP00000376232.2:p.Leu924=
ENST00000642289.1:c.2657A=
ENST00000642445.1:c.2718A=	ENSP00000495535.1:p.Leu906=
ENST00000642593.1:c.*943A=	ENSP00000494273.1:n.*943A=
ENST00000643329.1:c.2400A=	ENSP00000493673.1:p.Leu800=
ENST00000643737.1:c.*2799A=	ENSP00000494210.1:n.*2799A=
ENST00000644595.1:c.2718A=	ENSP00000494121.1:p.Leu906=
ENST00000644629.1:c.2305A=
ENST00000644841.1:c.*1202A=	ENSP00000493988.1:n.*1202A=
ENST00000644959.1:c.2712A=
ENST00000645553.1:c.2733A=	ENSP00000494725.1:p.Leu911=
ENST00000646085.1:c.*2196A=	ENSP00000494509.1:n.*2196A=
ENST00000646277.1:c.*1319A=	ENSP00000495289.1:n.*1319A=
ENST00000646544.1:c.1706A=
ENST00000646699.1:c.2657A=
ENST00000646793.1:c.2610A=	ENSP00000494512.1:p.Leu870=
ENST00000361150.6:c.2721A=	ENSP00000354781.2:p.Leu907=
ENST00000361510.6:c.2883A=	ENSP00000355324.2:p.Leu961=
ENST00000361715.6:c.2775A=	ENSP00000355311.2:p.Leu925=
ENST00000361828.6:c.2772A=	ENSP00000354429.2:p.Leu924=
ENST00000361908.7:c.2829A=	ENSP00000354681.3:p.Leu943=
ENST00000392438.7:c.2718A=	ENSP00000376233.3:p.Leu906=
ENST00000429164.1:c.5A=
ENST00000445863.1:c.294A=	ENSP00000398358.1:p.Leu98=
NM_015560.2:c.2718A= , LRG_337t1:c.2718A=	NP_056375.2:p.Leu906=
NM_130831.2:c.2610A=	NP_570844.1:p.Leu870=
NM_130832.2:c.2664A=	NP_570845.1:p.Leu888=
NM_130833.2:c.2721A=	NP_570846.1:p.Leu907=
NM_130834.2:c.2772A=	NP_570847.2:p.Leu924=
NM_130835.2:c.2775A=	NP_570848.1:p.Leu925=
NM_130836.2:c.2829A=	NP_570849.2:p.Leu943=
NM_130837.2:c.2883A= , LRG_337t2:c.2883A=	NP_570850.2:p.Leu961=
XM_011512863.1:c.2883A=	XP_011511165.1:p.Leu961=
XM_011512864.1:c.2829A=	XP_011511166.1:p.Leu943=
XM_011512865.1:c.2772A=	XP_011511167.1:p.Leu924=
XM_011512866.1:c.2721A=	XP_011511168.1:p.Leu907=
XM_011512867.1:c.2718A=	XP_011511169.1:p.Leu906=
XM_011512868.1:c.2610A=	XP_011511170.1:p.Leu870=
XR_924835.1:n.582+1740T=
NM_001354663.1:c.2349A=	NP_001341592.1:p.Leu783=
NM_001354664.1:c.2346A=	NP_001341593.1:p.Leu782=
XR_001740158.2:n.3137A=
XR_001740159.2:n.2972A=
XR_001741072.1:n.600+1740T=
XR_001741074.1:n.475+3628T=
XR_924835.2:n.600+1740T=
NM_001354663.2:c.2349A=	NP_001341592.1:p.Leu783=
NM_001354664.2:c.2346A=	NP_001341593.1:p.Leu782=
NM_130831.3:c.2610A=	NP_570844.1:p.Leu870=
NM_130832.3:c.2664A=	NP_570845.1:p.Leu888=
NM_130834.3:c.2772A=	NP_570847.2:p.Leu924=
NM_130836.3:c.2829A=	NP_570849.2:p.Leu943=
NM_015560.3:c.2718A=	NP_056375.2:p.Leu906=
NM_130833.3:c.2721A=	NP_570846.1:p.Leu907=
NM_130835.3:c.2775A=	NP_570848.1:p.Leu925=
NM_130837.3:c.2883A= MANE Select	NP_570850.2:p.Leu961=