Canonical Allele Identifier: CA2607048218

Gene: OPA1

Linked Data

• dbSNP Id: rs2109228238
• gnomAD v3: 3-193662559-C-CA
• gnomAD v4: 3-193662559-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662560dup , CM000665.2:g.193662560dup	GRCh38
NC_000003.11:g.193380349dup , CM000665.1:g.193380349dup	GRCh37
NC_000003.10:g.194863043dup	NCBI36
NG_011605.1:g.74417dup , LRG_337:g.74417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2521-262dup MANE Select	ENSP00000355324.2:n.2521-262dup
ENST00000361828.7:c.2356-262dup	ENSP00000354429.3:n.2356-262dup
ENST00000361908.8:c.2467-262dup	ENSP00000354681.3:n.2467-262dup
ENST00000392436.7:c.2356-262dup	ENSP00000376231.3:n.2356-262dup
ENST00000392437.6:c.2410-262dup	ENSP00000376232.2:n.2410-262dup
ENST00000642289.1:c.2295-262dup
ENST00000642445.1:c.2356-262dup	ENSP00000495535.1:n.2356-262dup
ENST00000642593.1:c.*581-262dup	ENSP00000494273.1:n.*581-262dup
ENST00000643329.1:c.2038-262dup	ENSP00000493673.1:n.2038-262dup
ENST00000643737.1:c.*2437-262dup	ENSP00000494210.1:n.*2437-262dup
ENST00000644595.1:c.2356-262dup	ENSP00000494121.1:n.2356-262dup
ENST00000644629.1:c.1943-262dup
ENST00000644841.1:c.*840-262dup	ENSP00000493988.1:n.*840-262dup
ENST00000644959.1:c.2350-262dup
ENST00000645553.1:c.2371-262dup	ENSP00000494725.1:n.2371-262dup
ENST00000646085.1:c.*1834-262dup	ENSP00000494509.1:n.*1834-262dup
ENST00000646277.1:c.*957-262dup	ENSP00000495289.1:n.*957-262dup
ENST00000646544.1:c.1344-262dup
ENST00000646699.1:c.2295-262dup
ENST00000646793.1:c.2248-262dup	ENSP00000494512.1:n.2248-262dup
ENST00000361150.6:c.2359-262dup	ENSP00000354781.2:n.2359-262dup
ENST00000361510.6:c.2521-262dup	ENSP00000355324.2:n.2521-262dup
ENST00000361715.6:c.2413-262dup	ENSP00000355311.2:n.2413-262dup
ENST00000361828.6:c.2410-262dup	ENSP00000354429.2:n.2410-262dup
ENST00000361908.7:c.2467-262dup	ENSP00000354681.3:n.2467-262dup
ENST00000392438.7:c.2356-262dup	ENSP00000376233.3:n.2356-262dup
NM_015560.2:c.2356-262dup , LRG_337t1:c.2356-262dup	NP_056375.2:n.2356-262dup
NM_130831.2:c.2248-262dup	NP_570844.1:n.2248-262dup
NM_130832.2:c.2302-262dup	NP_570845.1:n.2302-262dup
NM_130833.2:c.2359-262dup	NP_570846.1:n.2359-262dup
NM_130834.2:c.2410-262dup	NP_570847.2:n.2410-262dup
NM_130835.2:c.2413-262dup	NP_570848.1:n.2413-262dup
NM_130836.2:c.2467-262dup	NP_570849.2:n.2467-262dup
NM_130837.2:c.2521-262dup , LRG_337t2:c.2521-262dup	NP_570850.2:n.2521-262dup
XM_011512863.1:c.2521-262dup	XP_011511165.1:n.2521-262dup
XM_011512864.1:c.2467-262dup	XP_011511166.1:n.2467-262dup
XM_011512865.1:c.2410-262dup	XP_011511167.1:n.2410-262dup
XM_011512866.1:c.2359-262dup	XP_011511168.1:n.2359-262dup
XM_011512867.1:c.2356-262dup	XP_011511169.1:n.2356-262dup
XM_011512868.1:c.2248-262dup	XP_011511170.1:n.2248-262dup
XR_924835.1:n.582+6360dup
NM_001354663.1:c.1987-262dup	NP_001341592.1:n.1987-262dup
NM_001354664.1:c.1984-262dup	NP_001341593.1:n.1984-262dup
XR_001740158.2:n.2775-262dup
XR_001740159.2:n.2610-262dup
XR_001741072.1:n.601-2475dup
XR_001741074.1:n.475+8248dup
XR_924835.2:n.600+6360dup
NM_001354663.2:c.1987-262dup	NP_001341592.1:n.1987-262dup
NM_001354664.2:c.1984-262dup	NP_001341593.1:n.1984-262dup
NM_130831.3:c.2248-262dup	NP_570844.1:n.2248-262dup
NM_130832.3:c.2302-262dup	NP_570845.1:n.2302-262dup
NM_130834.3:c.2410-262dup	NP_570847.2:n.2410-262dup
NM_130836.3:c.2467-262dup	NP_570849.2:n.2467-262dup
NM_015560.3:c.2356-262dup	NP_056375.2:n.2356-262dup
NM_130833.3:c.2359-262dup	NP_570846.1:n.2359-262dup
NM_130835.3:c.2413-262dup	NP_570848.1:n.2413-262dup
NM_130837.3:c.2521-262dup MANE Select	NP_570850.2:n.2521-262dup