Canonical Allele Identifier: CA1430266373

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659561G= , CM000665.2:g.193659561G=	GRCh38
NC_000003.11:g.193377350G= , CM000665.1:g.193377350G=	GRCh37
NC_000003.10:g.194860044G=	NCBI36
NG_011605.1:g.71418G= , LRG_337:g.71418G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2520G= MANE Select	ENSP00000355324.2:p.Gln840=
ENST00000361828.7:c.2355G=	ENSP00000354429.3:p.Gln785=
ENST00000361908.8:c.2466G=	ENSP00000354681.3:p.Gln822=
ENST00000392436.7:c.2355G=	ENSP00000376231.3:p.Gln785=
ENST00000392437.6:c.2409G=	ENSP00000376232.2:p.Gln803=
ENST00000642289.1:c.2294G=
ENST00000642445.1:c.2355G=	ENSP00000495535.1:p.Gln785=
ENST00000642593.1:c.*580G=	ENSP00000494273.1:n.*580G=
ENST00000643329.1:c.2037G=	ENSP00000493673.1:p.Gln679=
ENST00000643737.1:c.*2436G=	ENSP00000494210.1:n.*2436G=
ENST00000644595.1:c.2355G=	ENSP00000494121.1:p.Gln785=
ENST00000644629.1:c.1942G=
ENST00000644841.1:c.*839G=	ENSP00000493988.1:n.*839G=
ENST00000644959.1:c.2349G=
ENST00000645553.1:c.2370G=	ENSP00000494725.1:p.Gln790=
ENST00000646085.1:c.*1833G=	ENSP00000494509.1:n.*1833G=
ENST00000646277.1:c.*956G=	ENSP00000495289.1:n.*956G=
ENST00000646544.1:c.1343G=
ENST00000646699.1:c.2294G=
ENST00000646793.1:c.2247G=	ENSP00000494512.1:p.Gln749=
ENST00000361150.6:c.2358G=	ENSP00000354781.2:p.Gln786=
ENST00000361510.6:c.2520G=	ENSP00000355324.2:p.Gln840=
ENST00000361715.6:c.2412G=	ENSP00000355311.2:p.Gln804=
ENST00000361828.6:c.2409G=	ENSP00000354429.2:p.Gln803=
ENST00000361908.7:c.2466G=	ENSP00000354681.3:p.Gln822=
ENST00000392438.7:c.2355G=	ENSP00000376233.3:p.Gln785=
NM_015560.2:c.2355G= , LRG_337t1:c.2355G=	NP_056375.2:p.Gln785=
NM_130831.2:c.2247G=	NP_570844.1:p.Gln749=
NM_130832.2:c.2301G=	NP_570845.1:p.Gln767=
NM_130833.2:c.2358G=	NP_570846.1:p.Gln786=
NM_130834.2:c.2409G=	NP_570847.2:p.Gln803=
NM_130835.2:c.2412G=	NP_570848.1:p.Gln804=
NM_130836.2:c.2466G=	NP_570849.2:p.Gln822=
NM_130837.2:c.2520G= , LRG_337t2:c.2520G=	NP_570850.2:p.Gln840=
XM_011512863.1:c.2520G=	XP_011511165.1:p.Gln840=
XM_011512864.1:c.2466G=	XP_011511166.1:p.Gln822=
XM_011512865.1:c.2409G=	XP_011511167.1:p.Gln803=
XM_011512866.1:c.2358G=	XP_011511168.1:p.Gln786=
XM_011512867.1:c.2355G=	XP_011511169.1:p.Gln785=
XM_011512868.1:c.2247G=	XP_011511170.1:p.Gln749=
XR_924835.1:n.582+9359C=
NM_001354663.1:c.1986G=	NP_001341592.1:p.Gln662=
NM_001354664.1:c.1983G=	NP_001341593.1:p.Gln661=
XR_001740158.2:n.2774G=
XR_001740159.2:n.2609G=
XR_001741074.1:n.475+11247C=
XR_924835.2:n.600+9359C=
NM_001354663.2:c.1986G=	NP_001341592.1:p.Gln662=
NM_001354664.2:c.1983G=	NP_001341593.1:p.Gln661=
NM_130831.3:c.2247G=	NP_570844.1:p.Gln749=
NM_130832.3:c.2301G=	NP_570845.1:p.Gln767=
NM_130834.3:c.2409G=	NP_570847.2:p.Gln803=
NM_130836.3:c.2466G=	NP_570849.2:p.Gln822=
NM_015560.3:c.2355G=	NP_056375.2:p.Gln785=
NM_130833.3:c.2358G=	NP_570846.1:p.Gln786=
NM_130835.3:c.2412G=	NP_570848.1:p.Gln804=
NM_130837.3:c.2520G= MANE Select	NP_570850.2:p.Gln840=