Canonical Allele Identifier: CA904581729

Gene: OPA1

Linked Data

• dbSNP Id: rs1300957560
• MyVariant Identifiers: chr3:g.193377240_193377241insAATTCTTGATTAATT (hg19) ; chr3:g.193659451_193659452insAATTCTTGATTAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659456_193659470dup , CM000665.2:g.193659456_193659470dup	GRCh38
NC_000003.11:g.193377245_193377259dup , CM000665.1:g.193377245_193377259dup	GRCh37
NC_000003.10:g.194859939_194859953dup	NCBI36
NG_011605.1:g.71313_71327dup , LRG_337:g.71313_71327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2441-26_2441-12dup MANE Select	ENSP00000355324.2:n.2441-26_2441-12dup
ENST00000361828.7:c.2276-26_2276-12dup	ENSP00000354429.3:n.2276-26_2276-12dup
ENST00000361908.8:c.2387-26_2387-12dup	ENSP00000354681.3:n.2387-26_2387-12dup
ENST00000392436.7:c.2276-26_2276-12dup	ENSP00000376231.3:n.2276-26_2276-12dup
ENST00000392437.6:c.2330-26_2330-12dup	ENSP00000376232.2:n.2330-26_2330-12dup
ENST00000642289.1:c.2215-26_2215-12dup
ENST00000642445.1:c.2276-26_2276-12dup	ENSP00000495535.1:n.2276-26_2276-12dup
ENST00000642593.1:c.*501-26_*501-12dup	ENSP00000494273.1:n.*501-26_*501-12dup
ENST00000643329.1:c.1958-26_1958-12dup	ENSP00000493673.1:n.1958-26_1958-12dup
ENST00000643737.1:c.*2357-26_*2357-12dup	ENSP00000494210.1:n.*2357-26_*2357-12dup
ENST00000644595.1:c.2276-26_2276-12dup	ENSP00000494121.1:n.2276-26_2276-12dup
ENST00000644629.1:c.1863-26_1863-12dup
ENST00000644841.1:c.*760-26_*760-12dup	ENSP00000493988.1:n.*760-26_*760-12dup
ENST00000644959.1:c.2270-26_2270-12dup
ENST00000645553.1:c.2291-26_2291-12dup	ENSP00000494725.1:n.2291-26_2291-12dup
ENST00000646085.1:c.*1754-26_*1754-12dup	ENSP00000494509.1:n.*1754-26_*1754-12dup
ENST00000646277.1:c.*877-26_*877-12dup	ENSP00000495289.1:n.*877-26_*877-12dup
ENST00000646544.1:c.1264-26_1264-12dup
ENST00000646699.1:c.2215-26_2215-12dup
ENST00000646793.1:c.2168-26_2168-12dup	ENSP00000494512.1:n.2168-26_2168-12dup
ENST00000361150.6:c.2279-26_2279-12dup	ENSP00000354781.2:n.2279-26_2279-12dup
ENST00000361510.6:c.2441-26_2441-12dup	ENSP00000355324.2:n.2441-26_2441-12dup
ENST00000361715.6:c.2333-26_2333-12dup	ENSP00000355311.2:n.2333-26_2333-12dup
ENST00000361828.6:c.2330-26_2330-12dup	ENSP00000354429.2:n.2330-26_2330-12dup
ENST00000361908.7:c.2387-26_2387-12dup	ENSP00000354681.3:n.2387-26_2387-12dup
ENST00000392438.7:c.2276-26_2276-12dup	ENSP00000376233.3:n.2276-26_2276-12dup
ENST00000482865.1:n.535-26_535-12dup
NM_015560.2:c.2276-26_2276-12dup , LRG_337t1:c.2276-26_2276-12dup	NP_056375.2:n.2276-26_2276-12dup
NM_130831.2:c.2168-26_2168-12dup	NP_570844.1:n.2168-26_2168-12dup
NM_130832.2:c.2222-26_2222-12dup	NP_570845.1:n.2222-26_2222-12dup
NM_130833.2:c.2279-26_2279-12dup	NP_570846.1:n.2279-26_2279-12dup
NM_130834.2:c.2330-26_2330-12dup	NP_570847.2:n.2330-26_2330-12dup
NM_130835.2:c.2333-26_2333-12dup	NP_570848.1:n.2333-26_2333-12dup
NM_130836.2:c.2387-26_2387-12dup	NP_570849.2:n.2387-26_2387-12dup
NM_130837.2:c.2441-26_2441-12dup , LRG_337t2:c.2441-26_2441-12dup	NP_570850.2:n.2441-26_2441-12dup
XM_011512863.1:c.2441-26_2441-12dup	XP_011511165.1:n.2441-26_2441-12dup
XM_011512864.1:c.2387-26_2387-12dup	XP_011511166.1:n.2387-26_2387-12dup
XM_011512865.1:c.2330-26_2330-12dup	XP_011511167.1:n.2330-26_2330-12dup
XM_011512866.1:c.2279-26_2279-12dup	XP_011511168.1:n.2279-26_2279-12dup
XM_011512867.1:c.2276-26_2276-12dup	XP_011511169.1:n.2276-26_2276-12dup
XM_011512868.1:c.2168-26_2168-12dup	XP_011511170.1:n.2168-26_2168-12dup
XR_924835.1:n.582+9454_582+9468dup
NM_001354663.1:c.1907-26_1907-12dup	NP_001341592.1:n.1907-26_1907-12dup
NM_001354664.1:c.1904-26_1904-12dup	NP_001341593.1:n.1904-26_1904-12dup
XR_001740158.2:n.2695-26_2695-12dup
XR_001740159.2:n.2530-26_2530-12dup
XR_001741074.1:n.475+11342_475+11356dup
XR_924835.2:n.600+9454_600+9468dup
NM_001354663.2:c.1907-26_1907-12dup	NP_001341592.1:n.1907-26_1907-12dup
NM_001354664.2:c.1904-26_1904-12dup	NP_001341593.1:n.1904-26_1904-12dup
NM_130831.3:c.2168-26_2168-12dup	NP_570844.1:n.2168-26_2168-12dup
NM_130832.3:c.2222-26_2222-12dup	NP_570845.1:n.2222-26_2222-12dup
NM_130834.3:c.2330-26_2330-12dup	NP_570847.2:n.2330-26_2330-12dup
NM_130836.3:c.2387-26_2387-12dup	NP_570849.2:n.2387-26_2387-12dup
NM_015560.3:c.2276-26_2276-12dup	NP_056375.2:n.2276-26_2276-12dup
NM_130833.3:c.2279-26_2279-12dup	NP_570846.1:n.2279-26_2279-12dup
NM_130835.3:c.2333-26_2333-12dup	NP_570848.1:n.2333-26_2333-12dup
NM_130837.3:c.2441-26_2441-12dup MANE Select	NP_570850.2:n.2441-26_2441-12dup