Canonical Allele Identifier: CA355797056

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193384959T>A (hg19) ; chr3:g.193667170T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667170T>A , CM000665.2:g.193667170T>A	GRCh38
NC_000003.11:g.193384959T>A , CM000665.1:g.193384959T>A	GRCh37
NC_000003.10:g.194867653T>A	NCBI36
NG_011605.1:g.79027T>A , LRG_337:g.79027T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2873T>A MANE Select	ENSP00000355324.2:p.Val958Asp
ENST00000361828.7:c.2708T>A	ENSP00000354429.3:p.Val903Asp
ENST00000361908.8:c.2819T>A	ENSP00000354681.3:p.Val940Asp
ENST00000392436.7:c.2708T>A	ENSP00000376231.3:p.Val903Asp
ENST00000392437.6:c.2762T>A	ENSP00000376232.2:p.Val921Asp
ENST00000642289.1:c.2647T>A
ENST00000642445.1:c.2708T>A	ENSP00000495535.1:p.Val903Asp
ENST00000642593.1:c.*933T>A	ENSP00000494273.1:n.*933T>A
ENST00000643329.1:c.2390T>A	ENSP00000493673.1:p.Val797Asp
ENST00000643737.1:c.*2789T>A	ENSP00000494210.1:n.*2789T>A
ENST00000644595.1:c.2708T>A	ENSP00000494121.1:p.Val903Asp
ENST00000644629.1:c.2295T>A
ENST00000644841.1:c.*1192T>A	ENSP00000493988.1:n.*1192T>A
ENST00000644959.1:c.2702T>A
ENST00000645553.1:c.2723T>A	ENSP00000494725.1:p.Val908Asp
ENST00000646085.1:c.*2186T>A	ENSP00000494509.1:n.*2186T>A
ENST00000646277.1:c.*1309T>A	ENSP00000495289.1:n.*1309T>A
ENST00000646544.1:c.1696T>A
ENST00000646699.1:c.2647T>A
ENST00000646793.1:c.2600T>A	ENSP00000494512.1:p.Val867Asp
ENST00000361150.6:c.2711T>A	ENSP00000354781.2:p.Val904Asp
ENST00000361510.6:c.2873T>A	ENSP00000355324.2:p.Val958Asp
ENST00000361715.6:c.2765T>A	ENSP00000355311.2:p.Val922Asp
ENST00000361828.6:c.2762T>A	ENSP00000354429.2:p.Val921Asp
ENST00000361908.7:c.2819T>A	ENSP00000354681.3:p.Val940Asp
ENST00000392438.7:c.2708T>A	ENSP00000376233.3:p.Val903Asp
ENST00000445863.1:c.284T>A	ENSP00000398358.1:p.Val95Asp
NM_015560.2:c.2708T>A , LRG_337t1:c.2708T>A	NP_056375.2:p.Val903Asp
NM_130831.2:c.2600T>A	NP_570844.1:p.Val867Asp
NM_130832.2:c.2654T>A	NP_570845.1:p.Val885Asp
NM_130833.2:c.2711T>A	NP_570846.1:p.Val904Asp
NM_130834.2:c.2762T>A	NP_570847.2:p.Val921Asp
NM_130835.2:c.2765T>A	NP_570848.1:p.Val922Asp
NM_130836.2:c.2819T>A	NP_570849.2:p.Val940Asp
NM_130837.2:c.2873T>A , LRG_337t2:c.2873T>A	NP_570850.2:p.Val958Asp
XM_011512863.1:c.2873T>A	XP_011511165.1:p.Val958Asp
XM_011512864.1:c.2819T>A	XP_011511166.1:p.Val940Asp
XM_011512865.1:c.2762T>A	XP_011511167.1:p.Val921Asp
XM_011512866.1:c.2711T>A	XP_011511168.1:p.Val904Asp
XM_011512867.1:c.2708T>A	XP_011511169.1:p.Val903Asp
XM_011512868.1:c.2600T>A	XP_011511170.1:p.Val867Asp
XR_924835.1:n.582+1750A>T
NM_001354663.1:c.2339T>A	NP_001341592.1:p.Val780Asp
NM_001354664.1:c.2336T>A	NP_001341593.1:p.Val779Asp
XR_001740158.2:n.3127T>A
XR_001740159.2:n.2962T>A
XR_001741072.1:n.600+1750A>T
XR_001741074.1:n.475+3638A>T
XR_924835.2:n.600+1750A>T
NM_001354663.2:c.2339T>A	NP_001341592.1:p.Val780Asp
NM_001354664.2:c.2336T>A	NP_001341593.1:p.Val779Asp
NM_130831.3:c.2600T>A	NP_570844.1:p.Val867Asp
NM_130832.3:c.2654T>A	NP_570845.1:p.Val885Asp
NM_130834.3:c.2762T>A	NP_570847.2:p.Val921Asp
NM_130836.3:c.2819T>A	NP_570849.2:p.Val940Asp
NM_015560.3:c.2708T>A	NP_056375.2:p.Val903Asp
NM_130833.3:c.2711T>A	NP_570846.1:p.Val904Asp
NM_130835.3:c.2765T>A	NP_570848.1:p.Val922Asp
NM_130837.3:c.2873T>A MANE Select	NP_570850.2:p.Val958Asp