Canonical Allele Identifier: CA437441604

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380697A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662908A>C , CM000665.2:g.193662908A>C	GRCh38
NC_000003.11:g.193380697A>C , CM000665.1:g.193380697A>C	GRCh37
NC_000003.10:g.194863391A>C	NCBI36
NG_011605.1:g.74765A>C , LRG_337:g.74765A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2607A>C MANE Select	ENSP00000355324.2:p.Ile869=
ENST00000361828.7:c.2442A>C	ENSP00000354429.3:p.Ile814=
ENST00000361908.8:c.2553A>C	ENSP00000354681.3:p.Ile851=
ENST00000392436.7:c.2442A>C	ENSP00000376231.3:p.Ile814=
ENST00000392437.6:c.2496A>C	ENSP00000376232.2:p.Ile832=
ENST00000642289.1:c.2381A>C
ENST00000642445.1:c.2442A>C	ENSP00000495535.1:p.Ile814=
ENST00000642593.1:c.*667A>C	ENSP00000494273.1:n.*667A>C
ENST00000643329.1:c.2124A>C	ENSP00000493673.1:p.Ile708=
ENST00000643737.1:c.*2523A>C	ENSP00000494210.1:n.*2523A>C
ENST00000644595.1:c.2442A>C	ENSP00000494121.1:p.Ile814=
ENST00000644629.1:c.2029A>C
ENST00000644841.1:c.*926A>C	ENSP00000493988.1:n.*926A>C
ENST00000644959.1:c.2436A>C
ENST00000645553.1:c.2457A>C	ENSP00000494725.1:p.Ile819=
ENST00000646085.1:c.*1920A>C	ENSP00000494509.1:n.*1920A>C
ENST00000646277.1:c.*1043A>C	ENSP00000495289.1:n.*1043A>C
ENST00000646544.1:c.1430A>C
ENST00000646699.1:c.2381A>C
ENST00000646793.1:c.2334A>C	ENSP00000494512.1:p.Ile778=
ENST00000361150.6:c.2445A>C	ENSP00000354781.2:p.Ile815=
ENST00000361510.6:c.2607A>C	ENSP00000355324.2:p.Ile869=
ENST00000361715.6:c.2499A>C	ENSP00000355311.2:p.Ile833=
ENST00000361828.6:c.2496A>C	ENSP00000354429.2:p.Ile832=
ENST00000361908.7:c.2553A>C	ENSP00000354681.3:p.Ile851=
ENST00000392438.7:c.2442A>C	ENSP00000376233.3:p.Ile814=
ENST00000445863.1:c.18A>C	ENSP00000398358.1:p.Ile6=
NM_015560.2:c.2442A>C , LRG_337t1:c.2442A>C	NP_056375.2:p.Ile814=
NM_130831.2:c.2334A>C	NP_570844.1:p.Ile778=
NM_130832.2:c.2388A>C	NP_570845.1:p.Ile796=
NM_130833.2:c.2445A>C	NP_570846.1:p.Ile815=
NM_130834.2:c.2496A>C	NP_570847.2:p.Ile832=
NM_130835.2:c.2499A>C	NP_570848.1:p.Ile833=
NM_130836.2:c.2553A>C	NP_570849.2:p.Ile851=
NM_130837.2:c.2607A>C , LRG_337t2:c.2607A>C	NP_570850.2:p.Ile869=
XM_011512863.1:c.2607A>C	XP_011511165.1:p.Ile869=
XM_011512864.1:c.2553A>C	XP_011511166.1:p.Ile851=
XM_011512865.1:c.2496A>C	XP_011511167.1:p.Ile832=
XM_011512866.1:c.2445A>C	XP_011511168.1:p.Ile815=
XM_011512867.1:c.2442A>C	XP_011511169.1:p.Ile814=
XM_011512868.1:c.2334A>C	XP_011511170.1:p.Ile778=
XR_924835.1:n.582+6012T>G
NM_001354663.1:c.2073A>C	NP_001341592.1:p.Ile691=
NM_001354664.1:c.2070A>C	NP_001341593.1:p.Ile690=
XR_001740158.2:n.2861A>C
XR_001740159.2:n.2696A>C
XR_001741072.1:n.601-2823T>G
XR_001741074.1:n.475+7900T>G
XR_924835.2:n.600+6012T>G
NM_001354663.2:c.2073A>C	NP_001341592.1:p.Ile691=
NM_001354664.2:c.2070A>C	NP_001341593.1:p.Ile690=
NM_130831.3:c.2334A>C	NP_570844.1:p.Ile778=
NM_130832.3:c.2388A>C	NP_570845.1:p.Ile796=
NM_130834.3:c.2496A>C	NP_570847.2:p.Ile832=
NM_130836.3:c.2553A>C	NP_570849.2:p.Ile851=
NM_015560.3:c.2442A>C	NP_056375.2:p.Ile814=
NM_130833.3:c.2445A>C	NP_570846.1:p.Ile815=
NM_130835.3:c.2499A>C	NP_570848.1:p.Ile833=
NM_130837.3:c.2607A>C MANE Select	NP_570850.2:p.Ile869=