Canonical Allele Identifier: CA90558313

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2191911
• ClinVar RCV Id: RCV002643592
• dbSNP Id: rs200493444
• MyVariant Identifiers: chr3:g.193385017G>A (hg19) ; chr3:g.193667228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667228G>A , CM000665.2:g.193667228G>A	GRCh38
NC_000003.11:g.193385017G>A , CM000665.1:g.193385017G>A	GRCh37
NC_000003.10:g.194867711G>A	NCBI36
NG_011605.1:g.79085G>A , LRG_337:g.79085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2931G>A MANE Select	ENSP00000355324.2:p.Glu977=
ENST00000361828.7:c.2766G>A	ENSP00000354429.3:p.Glu922=
ENST00000361908.8:c.2877G>A	ENSP00000354681.3:p.Glu959=
ENST00000392436.7:c.2766G>A	ENSP00000376231.3:p.Glu922=
ENST00000392437.6:c.2820G>A	ENSP00000376232.2:p.Glu940=
ENST00000642289.1:c.2705G>A
ENST00000642445.1:c.2766G>A	ENSP00000495535.1:p.Glu922=
ENST00000642593.1:c.*991G>A	ENSP00000494273.1:n.*991G>A
ENST00000643329.1:c.2448G>A	ENSP00000493673.1:p.Glu816=
ENST00000643737.1:c.*2847G>A	ENSP00000494210.1:n.*2847G>A
ENST00000644595.1:c.2766G>A	ENSP00000494121.1:p.Glu922=
ENST00000644629.1:c.2353G>A
ENST00000644841.1:c.*1250G>A	ENSP00000493988.1:n.*1250G>A
ENST00000644959.1:c.2760G>A
ENST00000645553.1:c.2781G>A	ENSP00000494725.1:p.Glu927=
ENST00000646085.1:c.*2244G>A	ENSP00000494509.1:n.*2244G>A
ENST00000646277.1:c.*1367G>A	ENSP00000495289.1:n.*1367G>A
ENST00000646544.1:c.1754G>A
ENST00000646699.1:c.2705G>A
ENST00000646793.1:c.2658G>A	ENSP00000494512.1:p.Glu886=
ENST00000361150.6:c.2769G>A	ENSP00000354781.2:p.Glu923=
ENST00000361510.6:c.2931G>A	ENSP00000355324.2:p.Glu977=
ENST00000361715.6:c.2823G>A	ENSP00000355311.2:p.Glu941=
ENST00000361828.6:c.2820G>A	ENSP00000354429.2:p.Glu940=
ENST00000361908.7:c.2877G>A	ENSP00000354681.3:p.Glu959=
ENST00000392438.7:c.2766G>A	ENSP00000376233.3:p.Glu922=
ENST00000429164.1:c.53G>A
ENST00000445863.1:c.342G>A	ENSP00000398358.1:p.Glu114=
NM_015560.2:c.2766G>A , LRG_337t1:c.2766G>A	NP_056375.2:p.Glu922=
NM_130831.2:c.2658G>A	NP_570844.1:p.Glu886=
NM_130832.2:c.2712G>A	NP_570845.1:p.Glu904=
NM_130833.2:c.2769G>A	NP_570846.1:p.Glu923=
NM_130834.2:c.2820G>A	NP_570847.2:p.Glu940=
NM_130835.2:c.2823G>A	NP_570848.1:p.Glu941=
NM_130836.2:c.2877G>A	NP_570849.2:p.Glu959=
NM_130837.2:c.2931G>A , LRG_337t2:c.2931G>A	NP_570850.2:p.Glu977=
XM_011512863.1:c.2931G>A	XP_011511165.1:p.Glu977=
XM_011512864.1:c.2877G>A	XP_011511166.1:p.Glu959=
XM_011512865.1:c.2820G>A	XP_011511167.1:p.Glu940=
XM_011512866.1:c.2769G>A	XP_011511168.1:p.Glu923=
XM_011512867.1:c.2766G>A	XP_011511169.1:p.Glu922=
XM_011512868.1:c.2658G>A	XP_011511170.1:p.Glu886=
XR_924835.1:n.582+1692C>T
NM_001354663.1:c.2397G>A	NP_001341592.1:p.Glu799=
NM_001354664.1:c.2394G>A	NP_001341593.1:p.Glu798=
XR_001740158.2:n.3185G>A
XR_001740159.2:n.3020G>A
XR_001741072.1:n.600+1692C>T
XR_001741074.1:n.475+3580C>T
XR_924835.2:n.600+1692C>T
NM_001354663.2:c.2397G>A	NP_001341592.1:p.Glu799=
NM_001354664.2:c.2394G>A	NP_001341593.1:p.Glu798=
NM_130831.3:c.2658G>A	NP_570844.1:p.Glu886=
NM_130832.3:c.2712G>A	NP_570845.1:p.Glu904=
NM_130834.3:c.2820G>A	NP_570847.2:p.Glu940=
NM_130836.3:c.2877G>A	NP_570849.2:p.Glu959=
NM_015560.3:c.2766G>A	NP_056375.2:p.Glu922=
NM_130833.3:c.2769G>A	NP_570846.1:p.Glu923=
NM_130835.3:c.2823G>A	NP_570848.1:p.Glu941=
NM_130837.3:c.2931G>A MANE Select	NP_570850.2:p.Glu977=