Canonical Allele Identifier: CA90551126

Gene: OPA1

Linked Data

• dbSNP Id: rs899836944
• gnomAD v2: 3-193377220-T-TTG
• gnomAD v4: 3-193659431-T-TTG
• MyVariant Identifiers: chr3:g.193377220_193377221insTG (hg19) ; chr3:g.193659431_193659432insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659441_193659442dup , CM000665.2:g.193659441_193659442dup	GRCh38
NC_000003.11:g.193377230_193377231dup , CM000665.1:g.193377230_193377231dup	GRCh37
NC_000003.10:g.194859924_194859925dup	NCBI36
NG_011605.1:g.71298_71299dup , LRG_337:g.71298_71299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2441-41_2441-40dup MANE Select	ENSP00000355324.2:n.2441-41_2441-40dup
ENST00000361828.7:c.2276-41_2276-40dup	ENSP00000354429.3:n.2276-41_2276-40dup
ENST00000361908.8:c.2387-41_2387-40dup	ENSP00000354681.3:n.2387-41_2387-40dup
ENST00000392436.7:c.2276-41_2276-40dup	ENSP00000376231.3:n.2276-41_2276-40dup
ENST00000392437.6:c.2330-41_2330-40dup	ENSP00000376232.2:n.2330-41_2330-40dup
ENST00000642289.1:c.2215-41_2215-40dup
ENST00000642445.1:c.2276-41_2276-40dup	ENSP00000495535.1:n.2276-41_2276-40dup
ENST00000642593.1:c.*501-41_*501-40dup	ENSP00000494273.1:n.*501-41_*501-40dup
ENST00000643329.1:c.1958-41_1958-40dup	ENSP00000493673.1:n.1958-41_1958-40dup
ENST00000643737.1:c.*2357-41_*2357-40dup	ENSP00000494210.1:n.*2357-41_*2357-40dup
ENST00000644595.1:c.2276-41_2276-40dup	ENSP00000494121.1:n.2276-41_2276-40dup
ENST00000644629.1:c.1863-41_1863-40dup
ENST00000644841.1:c.*760-41_*760-40dup	ENSP00000493988.1:n.*760-41_*760-40dup
ENST00000644959.1:c.2270-41_2270-40dup
ENST00000645553.1:c.2291-41_2291-40dup	ENSP00000494725.1:n.2291-41_2291-40dup
ENST00000646085.1:c.*1754-41_*1754-40dup	ENSP00000494509.1:n.*1754-41_*1754-40dup
ENST00000646277.1:c.*877-41_*877-40dup	ENSP00000495289.1:n.*877-41_*877-40dup
ENST00000646544.1:c.1264-41_1264-40dup
ENST00000646699.1:c.2215-41_2215-40dup
ENST00000646793.1:c.2168-41_2168-40dup	ENSP00000494512.1:n.2168-41_2168-40dup
ENST00000361150.6:c.2279-41_2279-40dup	ENSP00000354781.2:n.2279-41_2279-40dup
ENST00000361510.6:c.2441-41_2441-40dup	ENSP00000355324.2:n.2441-41_2441-40dup
ENST00000361715.6:c.2333-41_2333-40dup	ENSP00000355311.2:n.2333-41_2333-40dup
ENST00000361828.6:c.2330-41_2330-40dup	ENSP00000354429.2:n.2330-41_2330-40dup
ENST00000361908.7:c.2387-41_2387-40dup	ENSP00000354681.3:n.2387-41_2387-40dup
ENST00000392438.7:c.2276-41_2276-40dup	ENSP00000376233.3:n.2276-41_2276-40dup
ENST00000482865.1:n.535-41_535-40dup
NM_015560.2:c.2276-41_2276-40dup , LRG_337t1:c.2276-41_2276-40dup	NP_056375.2:n.2276-41_2276-40dup
NM_130831.2:c.2168-41_2168-40dup	NP_570844.1:n.2168-41_2168-40dup
NM_130832.2:c.2222-41_2222-40dup	NP_570845.1:n.2222-41_2222-40dup
NM_130833.2:c.2279-41_2279-40dup	NP_570846.1:n.2279-41_2279-40dup
NM_130834.2:c.2330-41_2330-40dup	NP_570847.2:n.2330-41_2330-40dup
NM_130835.2:c.2333-41_2333-40dup	NP_570848.1:n.2333-41_2333-40dup
NM_130836.2:c.2387-41_2387-40dup	NP_570849.2:n.2387-41_2387-40dup
NM_130837.2:c.2441-41_2441-40dup , LRG_337t2:c.2441-41_2441-40dup	NP_570850.2:n.2441-41_2441-40dup
XM_011512863.1:c.2441-41_2441-40dup	XP_011511165.1:n.2441-41_2441-40dup
XM_011512864.1:c.2387-41_2387-40dup	XP_011511166.1:n.2387-41_2387-40dup
XM_011512865.1:c.2330-41_2330-40dup	XP_011511167.1:n.2330-41_2330-40dup
XM_011512866.1:c.2279-41_2279-40dup	XP_011511168.1:n.2279-41_2279-40dup
XM_011512867.1:c.2276-41_2276-40dup	XP_011511169.1:n.2276-41_2276-40dup
XM_011512868.1:c.2168-41_2168-40dup	XP_011511170.1:n.2168-41_2168-40dup
XR_924835.1:n.582+9487_582+9488dup
NM_001354663.1:c.1907-41_1907-40dup	NP_001341592.1:n.1907-41_1907-40dup
NM_001354664.1:c.1904-41_1904-40dup	NP_001341593.1:n.1904-41_1904-40dup
XR_001740158.2:n.2695-41_2695-40dup
XR_001740159.2:n.2530-41_2530-40dup
XR_001741074.1:n.475+11375_475+11376dup
XR_924835.2:n.600+9487_600+9488dup
NM_001354663.2:c.1907-41_1907-40dup	NP_001341592.1:n.1907-41_1907-40dup
NM_001354664.2:c.1904-41_1904-40dup	NP_001341593.1:n.1904-41_1904-40dup
NM_130831.3:c.2168-41_2168-40dup	NP_570844.1:n.2168-41_2168-40dup
NM_130832.3:c.2222-41_2222-40dup	NP_570845.1:n.2222-41_2222-40dup
NM_130834.3:c.2330-41_2330-40dup	NP_570847.2:n.2330-41_2330-40dup
NM_130836.3:c.2387-41_2387-40dup	NP_570849.2:n.2387-41_2387-40dup
NM_015560.3:c.2276-41_2276-40dup	NP_056375.2:n.2276-41_2276-40dup
NM_130833.3:c.2279-41_2279-40dup	NP_570846.1:n.2279-41_2279-40dup
NM_130835.3:c.2333-41_2333-40dup	NP_570848.1:n.2333-41_2333-40dup
NM_130837.3:c.2441-41_2441-40dup MANE Select	NP_570850.2:n.2441-41_2441-40dup