Canonical Allele Identifier: CA2759699

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1135284
• ClinVar RCV Id: RCV001470474
• dbSNP Id: rs752852244
• ExAC: 3:193380667 G / A
• gnomAD v2: 3-193380667-G-A
• gnomAD v4: 3-193662878-G-A
• MyVariant Identifiers: chr3:g.193380667G>A (hg19) ; chr3:g.193662878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662878G>A , CM000665.2:g.193662878G>A	GRCh38
NC_000003.11:g.193380667G>A , CM000665.1:g.193380667G>A	GRCh37
NC_000003.10:g.194863361G>A	NCBI36
NG_011605.1:g.74735G>A , LRG_337:g.74735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2577G>A MANE Select	ENSP00000355324.2:p.Glu859=
ENST00000361828.7:c.2412G>A	ENSP00000354429.3:p.Glu804=
ENST00000361908.8:c.2523G>A	ENSP00000354681.3:p.Glu841=
ENST00000392436.7:c.2412G>A	ENSP00000376231.3:p.Glu804=
ENST00000392437.6:c.2466G>A	ENSP00000376232.2:p.Glu822=
ENST00000642289.1:c.2351G>A
ENST00000642445.1:c.2412G>A	ENSP00000495535.1:p.Glu804=
ENST00000642593.1:c.*637G>A	ENSP00000494273.1:n.*637G>A
ENST00000643329.1:c.2094G>A	ENSP00000493673.1:p.Glu698=
ENST00000643737.1:c.*2493G>A	ENSP00000494210.1:n.*2493G>A
ENST00000644595.1:c.2412G>A	ENSP00000494121.1:p.Glu804=
ENST00000644629.1:c.1999G>A
ENST00000644841.1:c.*896G>A	ENSP00000493988.1:n.*896G>A
ENST00000644959.1:c.2406G>A
ENST00000645553.1:c.2427G>A	ENSP00000494725.1:p.Glu809=
ENST00000646085.1:c.*1890G>A	ENSP00000494509.1:n.*1890G>A
ENST00000646277.1:c.*1013G>A	ENSP00000495289.1:n.*1013G>A
ENST00000646544.1:c.1400G>A
ENST00000646699.1:c.2351G>A
ENST00000646793.1:c.2304G>A	ENSP00000494512.1:p.Glu768=
ENST00000361150.6:c.2415G>A	ENSP00000354781.2:p.Glu805=
ENST00000361510.6:c.2577G>A	ENSP00000355324.2:p.Glu859=
ENST00000361715.6:c.2469G>A	ENSP00000355311.2:p.Glu823=
ENST00000361828.6:c.2466G>A	ENSP00000354429.2:p.Glu822=
ENST00000361908.7:c.2523G>A	ENSP00000354681.3:p.Glu841=
ENST00000392438.7:c.2412G>A	ENSP00000376233.3:p.Glu804=
NM_015560.2:c.2412G>A , LRG_337t1:c.2412G>A	NP_056375.2:p.Glu804=
NM_130831.2:c.2304G>A	NP_570844.1:p.Glu768=
NM_130832.2:c.2358G>A	NP_570845.1:p.Glu786=
NM_130833.2:c.2415G>A	NP_570846.1:p.Glu805=
NM_130834.2:c.2466G>A	NP_570847.2:p.Glu822=
NM_130835.2:c.2469G>A	NP_570848.1:p.Glu823=
NM_130836.2:c.2523G>A	NP_570849.2:p.Glu841=
NM_130837.2:c.2577G>A , LRG_337t2:c.2577G>A	NP_570850.2:p.Glu859=
XM_011512863.1:c.2577G>A	XP_011511165.1:p.Glu859=
XM_011512864.1:c.2523G>A	XP_011511166.1:p.Glu841=
XM_011512865.1:c.2466G>A	XP_011511167.1:p.Glu822=
XM_011512866.1:c.2415G>A	XP_011511168.1:p.Glu805=
XM_011512867.1:c.2412G>A	XP_011511169.1:p.Glu804=
XM_011512868.1:c.2304G>A	XP_011511170.1:p.Glu768=
XR_924835.1:n.582+6042C>T
NM_001354663.1:c.2043G>A	NP_001341592.1:p.Glu681=
NM_001354664.1:c.2040G>A	NP_001341593.1:p.Glu680=
XR_001740158.2:n.2831G>A
XR_001740159.2:n.2666G>A
XR_001741072.1:n.601-2793C>T
XR_001741074.1:n.475+7930C>T
XR_924835.2:n.600+6042C>T
NM_001354663.2:c.2043G>A	NP_001341592.1:p.Glu681=
NM_001354664.2:c.2040G>A	NP_001341593.1:p.Glu680=
NM_130831.3:c.2304G>A	NP_570844.1:p.Glu768=
NM_130832.3:c.2358G>A	NP_570845.1:p.Glu786=
NM_130834.3:c.2466G>A	NP_570847.2:p.Glu822=
NM_130836.3:c.2523G>A	NP_570849.2:p.Glu841=
NM_015560.3:c.2412G>A	NP_056375.2:p.Glu804=
NM_130833.3:c.2415G>A	NP_570846.1:p.Glu805=
NM_130835.3:c.2469G>A	NP_570848.1:p.Glu823=
NM_130837.3:c.2577G>A MANE Select	NP_570850.2:p.Glu859=