Canonical Allele Identifier: CA1057911346

Gene: OPA1

Linked Data

• dbSNP Id: rs1715599810
• gnomAD v3: 3-193662762-G-GT
• gnomAD v4: 3-193662762-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662767dup , CM000665.2:g.193662767dup	GRCh38
NC_000003.11:g.193380556dup , CM000665.1:g.193380556dup	GRCh37
NC_000003.10:g.194863250dup	NCBI36
NG_011605.1:g.74624dup , LRG_337:g.74624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2521-55dup MANE Select	ENSP00000355324.2:n.2521-55dup
ENST00000361828.7:c.2356-55dup	ENSP00000354429.3:n.2356-55dup
ENST00000361908.8:c.2467-55dup	ENSP00000354681.3:n.2467-55dup
ENST00000392436.7:c.2356-55dup	ENSP00000376231.3:n.2356-55dup
ENST00000392437.6:c.2410-55dup	ENSP00000376232.2:n.2410-55dup
ENST00000642289.1:c.2295-55dup
ENST00000642445.1:c.2356-55dup	ENSP00000495535.1:n.2356-55dup
ENST00000642593.1:c.*581-55dup	ENSP00000494273.1:n.*581-55dup
ENST00000643329.1:c.2038-55dup	ENSP00000493673.1:n.2038-55dup
ENST00000643737.1:c.*2437-55dup	ENSP00000494210.1:n.*2437-55dup
ENST00000644595.1:c.2356-55dup	ENSP00000494121.1:n.2356-55dup
ENST00000644629.1:c.1943-55dup
ENST00000644841.1:c.*840-55dup	ENSP00000493988.1:n.*840-55dup
ENST00000644959.1:c.2350-55dup
ENST00000645553.1:c.2371-55dup	ENSP00000494725.1:n.2371-55dup
ENST00000646085.1:c.*1834-55dup	ENSP00000494509.1:n.*1834-55dup
ENST00000646277.1:c.*957-55dup	ENSP00000495289.1:n.*957-55dup
ENST00000646544.1:c.1344-55dup
ENST00000646699.1:c.2295-55dup
ENST00000646793.1:c.2248-55dup	ENSP00000494512.1:n.2248-55dup
ENST00000361150.6:c.2359-55dup	ENSP00000354781.2:n.2359-55dup
ENST00000361510.6:c.2521-55dup	ENSP00000355324.2:n.2521-55dup
ENST00000361715.6:c.2413-55dup	ENSP00000355311.2:n.2413-55dup
ENST00000361828.6:c.2410-55dup	ENSP00000354429.2:n.2410-55dup
ENST00000361908.7:c.2467-55dup	ENSP00000354681.3:n.2467-55dup
ENST00000392438.7:c.2356-55dup	ENSP00000376233.3:n.2356-55dup
NM_015560.2:c.2356-55dup , LRG_337t1:c.2356-55dup	NP_056375.2:n.2356-55dup
NM_130831.2:c.2248-55dup	NP_570844.1:n.2248-55dup
NM_130832.2:c.2302-55dup	NP_570845.1:n.2302-55dup
NM_130833.2:c.2359-55dup	NP_570846.1:n.2359-55dup
NM_130834.2:c.2410-55dup	NP_570847.2:n.2410-55dup
NM_130835.2:c.2413-55dup	NP_570848.1:n.2413-55dup
NM_130836.2:c.2467-55dup	NP_570849.2:n.2467-55dup
NM_130837.2:c.2521-55dup , LRG_337t2:c.2521-55dup	NP_570850.2:n.2521-55dup
XM_011512863.1:c.2521-55dup	XP_011511165.1:n.2521-55dup
XM_011512864.1:c.2467-55dup	XP_011511166.1:n.2467-55dup
XM_011512865.1:c.2410-55dup	XP_011511167.1:n.2410-55dup
XM_011512866.1:c.2359-55dup	XP_011511168.1:n.2359-55dup
XM_011512867.1:c.2356-55dup	XP_011511169.1:n.2356-55dup
XM_011512868.1:c.2248-55dup	XP_011511170.1:n.2248-55dup
XR_924835.1:n.582+6157dup
NM_001354663.1:c.1987-55dup	NP_001341592.1:n.1987-55dup
NM_001354664.1:c.1984-55dup	NP_001341593.1:n.1984-55dup
XR_001740158.2:n.2775-55dup
XR_001740159.2:n.2610-55dup
XR_001741072.1:n.601-2678dup
XR_001741074.1:n.475+8045dup
XR_924835.2:n.600+6157dup
NM_001354663.2:c.1987-55dup	NP_001341592.1:n.1987-55dup
NM_001354664.2:c.1984-55dup	NP_001341593.1:n.1984-55dup
NM_130831.3:c.2248-55dup	NP_570844.1:n.2248-55dup
NM_130832.3:c.2302-55dup	NP_570845.1:n.2302-55dup
NM_130834.3:c.2410-55dup	NP_570847.2:n.2410-55dup
NM_130836.3:c.2467-55dup	NP_570849.2:n.2467-55dup
NM_015560.3:c.2356-55dup	NP_056375.2:n.2356-55dup
NM_130833.3:c.2359-55dup	NP_570846.1:n.2359-55dup
NM_130835.3:c.2413-55dup	NP_570848.1:n.2413-55dup
NM_130837.3:c.2521-55dup MANE Select	NP_570850.2:n.2521-55dup