Canonical Allele Identifier: CA548824574

Gene: OPA1

Linked Data

• dbSNP Id: rs1214121368
• gnomAD v2: 3-193380364-A-G
• gnomAD v3: 3-193662575-A-G
• gnomAD v4: 3-193662575-A-G
• MyVariant Identifiers: chr3:g.193380364A>G (hg19) ; chr3:g.193662575A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662575A>G , CM000665.2:g.193662575A>G	GRCh38
NC_000003.11:g.193380364A>G , CM000665.1:g.193380364A>G	GRCh37
NC_000003.10:g.194863058A>G	NCBI36
NG_011605.1:g.74432A>G , LRG_337:g.74432A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2521-247A>G MANE Select	ENSP00000355324.2:n.2521-247A>G
ENST00000361828.7:c.2356-247A>G	ENSP00000354429.3:n.2356-247A>G
ENST00000361908.8:c.2467-247A>G	ENSP00000354681.3:n.2467-247A>G
ENST00000392436.7:c.2356-247A>G	ENSP00000376231.3:n.2356-247A>G
ENST00000392437.6:c.2410-247A>G	ENSP00000376232.2:n.2410-247A>G
ENST00000642289.1:c.2295-247A>G
ENST00000642445.1:c.2356-247A>G	ENSP00000495535.1:n.2356-247A>G
ENST00000642593.1:c.*581-247A>G	ENSP00000494273.1:n.*581-247A>G
ENST00000643329.1:c.2038-247A>G	ENSP00000493673.1:n.2038-247A>G
ENST00000643737.1:c.*2437-247A>G	ENSP00000494210.1:n.*2437-247A>G
ENST00000644595.1:c.2356-247A>G	ENSP00000494121.1:n.2356-247A>G
ENST00000644629.1:c.1943-247A>G
ENST00000644841.1:c.*840-247A>G	ENSP00000493988.1:n.*840-247A>G
ENST00000644959.1:c.2350-247A>G
ENST00000645553.1:c.2371-247A>G	ENSP00000494725.1:n.2371-247A>G
ENST00000646085.1:c.*1834-247A>G	ENSP00000494509.1:n.*1834-247A>G
ENST00000646277.1:c.*957-247A>G	ENSP00000495289.1:n.*957-247A>G
ENST00000646544.1:c.1344-247A>G
ENST00000646699.1:c.2295-247A>G
ENST00000646793.1:c.2248-247A>G	ENSP00000494512.1:n.2248-247A>G
ENST00000361150.6:c.2359-247A>G	ENSP00000354781.2:n.2359-247A>G
ENST00000361510.6:c.2521-247A>G	ENSP00000355324.2:n.2521-247A>G
ENST00000361715.6:c.2413-247A>G	ENSP00000355311.2:n.2413-247A>G
ENST00000361828.6:c.2410-247A>G	ENSP00000354429.2:n.2410-247A>G
ENST00000361908.7:c.2467-247A>G	ENSP00000354681.3:n.2467-247A>G
ENST00000392438.7:c.2356-247A>G	ENSP00000376233.3:n.2356-247A>G
NM_015560.2:c.2356-247A>G , LRG_337t1:c.2356-247A>G	NP_056375.2:n.2356-247A>G
NM_130831.2:c.2248-247A>G	NP_570844.1:n.2248-247A>G
NM_130832.2:c.2302-247A>G	NP_570845.1:n.2302-247A>G
NM_130833.2:c.2359-247A>G	NP_570846.1:n.2359-247A>G
NM_130834.2:c.2410-247A>G	NP_570847.2:n.2410-247A>G
NM_130835.2:c.2413-247A>G	NP_570848.1:n.2413-247A>G
NM_130836.2:c.2467-247A>G	NP_570849.2:n.2467-247A>G
NM_130837.2:c.2521-247A>G , LRG_337t2:c.2521-247A>G	NP_570850.2:n.2521-247A>G
XM_011512863.1:c.2521-247A>G	XP_011511165.1:n.2521-247A>G
XM_011512864.1:c.2467-247A>G	XP_011511166.1:n.2467-247A>G
XM_011512865.1:c.2410-247A>G	XP_011511167.1:n.2410-247A>G
XM_011512866.1:c.2359-247A>G	XP_011511168.1:n.2359-247A>G
XM_011512867.1:c.2356-247A>G	XP_011511169.1:n.2356-247A>G
XM_011512868.1:c.2248-247A>G	XP_011511170.1:n.2248-247A>G
XR_924835.1:n.582+6345T>C
NM_001354663.1:c.1987-247A>G	NP_001341592.1:n.1987-247A>G
NM_001354664.1:c.1984-247A>G	NP_001341593.1:n.1984-247A>G
XR_001740158.2:n.2775-247A>G
XR_001740159.2:n.2610-247A>G
XR_001741072.1:n.601-2490T>C
XR_001741074.1:n.475+8233T>C
XR_924835.2:n.600+6345T>C
NM_001354663.2:c.1987-247A>G	NP_001341592.1:n.1987-247A>G
NM_001354664.2:c.1984-247A>G	NP_001341593.1:n.1984-247A>G
NM_130831.3:c.2248-247A>G	NP_570844.1:n.2248-247A>G
NM_130832.3:c.2302-247A>G	NP_570845.1:n.2302-247A>G
NM_130834.3:c.2410-247A>G	NP_570847.2:n.2410-247A>G
NM_130836.3:c.2467-247A>G	NP_570849.2:n.2467-247A>G
NM_015560.3:c.2356-247A>G	NP_056375.2:n.2356-247A>G
NM_130833.3:c.2359-247A>G	NP_570846.1:n.2359-247A>G
NM_130835.3:c.2413-247A>G	NP_570848.1:n.2413-247A>G
NM_130837.3:c.2521-247A>G MANE Select	NP_570850.2:n.2521-247A>G