Canonical Allele Identifier: CA2759670

Gene: OPA1

Linked Data

• dbSNP Id: rs774613690
• ExAC: 3:193377300 C / G
• gnomAD v2: 3-193377300-C-G
• gnomAD v4: 3-193659511-C-G
• MyVariant Identifiers: chr3:g.193377300C>G (hg19) ; chr3:g.193659511C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659511C>G , CM000665.2:g.193659511C>G	GRCh38
NC_000003.11:g.193377300C>G , CM000665.1:g.193377300C>G	GRCh37
NC_000003.10:g.194859994C>G	NCBI36
NG_011605.1:g.71368C>G , LRG_337:g.71368C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2470C>G MANE Select	ENSP00000355324.2:p.Pro824Ala
ENST00000361828.7:c.2305C>G	ENSP00000354429.3:p.Pro769Ala
ENST00000361908.8:c.2416C>G	ENSP00000354681.3:p.Pro806Ala
ENST00000392436.7:c.2305C>G	ENSP00000376231.3:p.Pro769Ala
ENST00000392437.6:c.2359C>G	ENSP00000376232.2:p.Pro787Ala
ENST00000642289.1:c.2244C>G
ENST00000642445.1:c.2305C>G	ENSP00000495535.1:p.Pro769Ala
ENST00000642593.1:c.*530C>G	ENSP00000494273.1:n.*530C>G
ENST00000643329.1:c.1987C>G	ENSP00000493673.1:p.Pro663Ala
ENST00000643737.1:c.*2386C>G	ENSP00000494210.1:n.*2386C>G
ENST00000644595.1:c.2305C>G	ENSP00000494121.1:p.Pro769Ala
ENST00000644629.1:c.1892C>G
ENST00000644841.1:c.*789C>G	ENSP00000493988.1:n.*789C>G
ENST00000644959.1:c.2299C>G
ENST00000645553.1:c.2320C>G	ENSP00000494725.1:p.Pro774Ala
ENST00000646085.1:c.*1783C>G	ENSP00000494509.1:n.*1783C>G
ENST00000646277.1:c.*906C>G	ENSP00000495289.1:n.*906C>G
ENST00000646544.1:c.1293C>G
ENST00000646699.1:c.2244C>G
ENST00000646793.1:c.2197C>G	ENSP00000494512.1:p.Pro733Ala
ENST00000361150.6:c.2308C>G	ENSP00000354781.2:p.Pro770Ala
ENST00000361510.6:c.2470C>G	ENSP00000355324.2:p.Pro824Ala
ENST00000361715.6:c.2362C>G	ENSP00000355311.2:p.Pro788Ala
ENST00000361828.6:c.2359C>G	ENSP00000354429.2:p.Pro787Ala
ENST00000361908.7:c.2416C>G	ENSP00000354681.3:p.Pro806Ala
ENST00000392438.7:c.2305C>G	ENSP00000376233.3:p.Pro769Ala
ENST00000482865.1:n.564C>G
NM_015560.2:c.2305C>G , LRG_337t1:c.2305C>G	NP_056375.2:p.Pro769Ala
NM_130831.2:c.2197C>G	NP_570844.1:p.Pro733Ala
NM_130832.2:c.2251C>G	NP_570845.1:p.Pro751Ala
NM_130833.2:c.2308C>G	NP_570846.1:p.Pro770Ala
NM_130834.2:c.2359C>G	NP_570847.2:p.Pro787Ala
NM_130835.2:c.2362C>G	NP_570848.1:p.Pro788Ala
NM_130836.2:c.2416C>G	NP_570849.2:p.Pro806Ala
NM_130837.2:c.2470C>G , LRG_337t2:c.2470C>G	NP_570850.2:p.Pro824Ala
XM_011512863.1:c.2470C>G	XP_011511165.1:p.Pro824Ala
XM_011512864.1:c.2416C>G	XP_011511166.1:p.Pro806Ala
XM_011512865.1:c.2359C>G	XP_011511167.1:p.Pro787Ala
XM_011512866.1:c.2308C>G	XP_011511168.1:p.Pro770Ala
XM_011512867.1:c.2305C>G	XP_011511169.1:p.Pro769Ala
XM_011512868.1:c.2197C>G	XP_011511170.1:p.Pro733Ala
XR_924835.1:n.582+9409G>C
NM_001354663.1:c.1936C>G	NP_001341592.1:p.Pro646Ala
NM_001354664.1:c.1933C>G	NP_001341593.1:p.Pro645Ala
XR_001740158.2:n.2724C>G
XR_001740159.2:n.2559C>G
XR_001741074.1:n.475+11297G>C
XR_924835.2:n.600+9409G>C
NM_001354663.2:c.1936C>G	NP_001341592.1:p.Pro646Ala
NM_001354664.2:c.1933C>G	NP_001341593.1:p.Pro645Ala
NM_130831.3:c.2197C>G	NP_570844.1:p.Pro733Ala
NM_130832.3:c.2251C>G	NP_570845.1:p.Pro751Ala
NM_130834.3:c.2359C>G	NP_570847.2:p.Pro787Ala
NM_130836.3:c.2416C>G	NP_570849.2:p.Pro806Ala
NM_015560.3:c.2305C>G	NP_056375.2:p.Pro769Ala
NM_130833.3:c.2308C>G	NP_570846.1:p.Pro770Ala
NM_130835.3:c.2362C>G	NP_570848.1:p.Pro788Ala
NM_130837.3:c.2470C>G MANE Select	NP_570850.2:p.Pro824Ala