Canonical Allele Identifier: CA355793222

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380705T>A (hg19) ; chr3:g.193662916T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662916T>A , CM000665.2:g.193662916T>A	GRCh38
NC_000003.11:g.193380705T>A , CM000665.1:g.193380705T>A	GRCh37
NC_000003.10:g.194863399T>A	NCBI36
NG_011605.1:g.74773T>A , LRG_337:g.74773T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2615T>A MANE Select	ENSP00000355324.2:p.Val872Asp
ENST00000361828.7:c.2450T>A	ENSP00000354429.3:p.Val817Asp
ENST00000361908.8:c.2561T>A	ENSP00000354681.3:p.Val854Asp
ENST00000392436.7:c.2450T>A	ENSP00000376231.3:p.Val817Asp
ENST00000392437.6:c.2504T>A	ENSP00000376232.2:p.Val835Asp
ENST00000642289.1:c.2389T>A
ENST00000642445.1:c.2450T>A	ENSP00000495535.1:p.Val817Asp
ENST00000642593.1:c.*675T>A	ENSP00000494273.1:n.*675T>A
ENST00000643329.1:c.2132T>A	ENSP00000493673.1:p.Val711Asp
ENST00000643737.1:c.*2531T>A	ENSP00000494210.1:n.*2531T>A
ENST00000644595.1:c.2450T>A	ENSP00000494121.1:p.Val817Asp
ENST00000644629.1:c.2037T>A
ENST00000644841.1:c.*934T>A	ENSP00000493988.1:n.*934T>A
ENST00000644959.1:c.2444T>A
ENST00000645553.1:c.2465T>A	ENSP00000494725.1:p.Val822Asp
ENST00000646085.1:c.*1928T>A	ENSP00000494509.1:n.*1928T>A
ENST00000646277.1:c.*1051T>A	ENSP00000495289.1:n.*1051T>A
ENST00000646544.1:c.1438T>A
ENST00000646699.1:c.2389T>A
ENST00000646793.1:c.2342T>A	ENSP00000494512.1:p.Val781Asp
ENST00000361150.6:c.2453T>A	ENSP00000354781.2:p.Val818Asp
ENST00000361510.6:c.2615T>A	ENSP00000355324.2:p.Val872Asp
ENST00000361715.6:c.2507T>A	ENSP00000355311.2:p.Val836Asp
ENST00000361828.6:c.2504T>A	ENSP00000354429.2:p.Val835Asp
ENST00000361908.7:c.2561T>A	ENSP00000354681.3:p.Val854Asp
ENST00000392438.7:c.2450T>A	ENSP00000376233.3:p.Val817Asp
ENST00000445863.1:c.26T>A	ENSP00000398358.1:p.Val9Asp
NM_015560.2:c.2450T>A , LRG_337t1:c.2450T>A	NP_056375.2:p.Val817Asp
NM_130831.2:c.2342T>A	NP_570844.1:p.Val781Asp
NM_130832.2:c.2396T>A	NP_570845.1:p.Val799Asp
NM_130833.2:c.2453T>A	NP_570846.1:p.Val818Asp
NM_130834.2:c.2504T>A	NP_570847.2:p.Val835Asp
NM_130835.2:c.2507T>A	NP_570848.1:p.Val836Asp
NM_130836.2:c.2561T>A	NP_570849.2:p.Val854Asp
NM_130837.2:c.2615T>A , LRG_337t2:c.2615T>A	NP_570850.2:p.Val872Asp
XM_011512863.1:c.2615T>A	XP_011511165.1:p.Val872Asp
XM_011512864.1:c.2561T>A	XP_011511166.1:p.Val854Asp
XM_011512865.1:c.2504T>A	XP_011511167.1:p.Val835Asp
XM_011512866.1:c.2453T>A	XP_011511168.1:p.Val818Asp
XM_011512867.1:c.2450T>A	XP_011511169.1:p.Val817Asp
XM_011512868.1:c.2342T>A	XP_011511170.1:p.Val781Asp
XR_924835.1:n.582+6004A>T
NM_001354663.1:c.2081T>A	NP_001341592.1:p.Val694Asp
NM_001354664.1:c.2078T>A	NP_001341593.1:p.Val693Asp
XR_001740158.2:n.2869T>A
XR_001740159.2:n.2704T>A
XR_001741072.1:n.601-2831A>T
XR_001741074.1:n.475+7892A>T
XR_924835.2:n.600+6004A>T
NM_001354663.2:c.2081T>A	NP_001341592.1:p.Val694Asp
NM_001354664.2:c.2078T>A	NP_001341593.1:p.Val693Asp
NM_130831.3:c.2342T>A	NP_570844.1:p.Val781Asp
NM_130832.3:c.2396T>A	NP_570845.1:p.Val799Asp
NM_130834.3:c.2504T>A	NP_570847.2:p.Val835Asp
NM_130836.3:c.2561T>A	NP_570849.2:p.Val854Asp
NM_015560.3:c.2450T>A	NP_056375.2:p.Val817Asp
NM_130833.3:c.2453T>A	NP_570846.1:p.Val818Asp
NM_130835.3:c.2507T>A	NP_570848.1:p.Val836Asp
NM_130837.3:c.2615T>A MANE Select	NP_570850.2:p.Val872Asp