Canonical Allele Identifier: CA437436716

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193361798A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193644009A>G , CM000665.2:g.193644009A>G	GRCh38
NC_000003.11:g.193361798A>G , CM000665.1:g.193361798A>G	GRCh37
NC_000003.10:g.194844492A>G	NCBI36
NG_011605.1:g.55866A>G , LRG_337:g.55866A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1512A>G MANE Select	ENSP00000355324.2:p.Thr504=
ENST00000361828.7:c.1347A>G	ENSP00000354429.3:p.Thr449=
ENST00000361908.8:c.1458A>G	ENSP00000354681.3:p.Thr486=
ENST00000392436.7:c.1347A>G	ENSP00000376231.3:p.Thr449=
ENST00000392437.6:c.1401A>G	ENSP00000376232.2:p.Thr467=
ENST00000642289.1:c.1286A>G
ENST00000642445.1:c.1347A>G	ENSP00000495535.1:p.Thr449=
ENST00000642593.1:c.1347A>G	ENSP00000494273.1:p.Thr449=
ENST00000643329.1:c.1029A>G	ENSP00000493673.1:p.Thr343=
ENST00000643737.1:c.*1428A>G	ENSP00000494210.1:n.*1428A>G
ENST00000644595.1:c.1347A>G	ENSP00000494121.1:p.Thr449=
ENST00000644629.1:c.1007A>G
ENST00000644841.1:c.975A>G	ENSP00000493988.1:p.Thr325=
ENST00000644959.1:c.1316A>G
ENST00000645553.1:c.1362A>G	ENSP00000494725.1:p.Thr454=
ENST00000646085.1:c.*825A>G	ENSP00000494509.1:n.*825A>G
ENST00000646277.1:c.1535A>G	ENSP00000495289.1:p.Gln512Arg
ENST00000646544.1:c.335A>G
ENST00000646699.1:c.1286A>G
ENST00000646793.1:c.1239A>G	ENSP00000494512.1:p.Thr413=
ENST00000361150.6:c.1350A>G	ENSP00000354781.2:p.Thr450=
ENST00000361510.6:c.1512A>G	ENSP00000355324.2:p.Thr504=
ENST00000361715.6:c.1404A>G	ENSP00000355311.2:p.Thr468=
ENST00000361828.6:c.1401A>G	ENSP00000354429.2:p.Thr467=
ENST00000361908.7:c.1458A>G	ENSP00000354681.3:p.Thr486=
ENST00000392438.7:c.1347A>G	ENSP00000376233.3:p.Thr449=
ENST00000475899.1:n.543A>G
NM_015560.2:c.1347A>G , LRG_337t1:c.1347A>G	NP_056375.2:p.Thr449=
NM_130831.2:c.1239A>G	NP_570844.1:p.Thr413=
NM_130832.2:c.1293A>G	NP_570845.1:p.Thr431=
NM_130833.2:c.1350A>G	NP_570846.1:p.Thr450=
NM_130834.2:c.1401A>G	NP_570847.2:p.Thr467=
NM_130835.2:c.1404A>G	NP_570848.1:p.Thr468=
NM_130836.2:c.1458A>G	NP_570849.2:p.Thr486=
NM_130837.2:c.1512A>G , LRG_337t2:c.1512A>G	NP_570850.2:p.Thr504=
XM_011512863.1:c.1512A>G	XP_011511165.1:p.Thr504=
XM_011512864.1:c.1458A>G	XP_011511166.1:p.Thr486=
XM_011512865.1:c.1401A>G	XP_011511167.1:p.Thr467=
XM_011512866.1:c.1350A>G	XP_011511168.1:p.Thr450=
XM_011512867.1:c.1347A>G	XP_011511169.1:p.Thr449=
XM_011512868.1:c.1239A>G	XP_011511170.1:p.Thr413=
XM_011512869.1:c.1512A>G	XP_011511171.1:p.Thr504=
NM_001354663.1:c.978A>G	NP_001341592.1:p.Thr326=
NM_001354664.1:c.975A>G	NP_001341593.1:p.Thr325=
XR_001740158.2:n.1741A>G
XR_001740159.2:n.1576A>G
NM_001354663.2:c.978A>G	NP_001341592.1:p.Thr326=
NM_001354664.2:c.975A>G	NP_001341593.1:p.Thr325=
NM_130831.3:c.1239A>G	NP_570844.1:p.Thr413=
NM_130832.3:c.1293A>G	NP_570845.1:p.Thr431=
NM_130834.3:c.1401A>G	NP_570847.2:p.Thr467=
NM_130836.3:c.1458A>G	NP_570849.2:p.Thr486=
NM_015560.3:c.1347A>G	NP_056375.2:p.Thr449=
NM_130833.3:c.1350A>G	NP_570846.1:p.Thr450=
NM_130835.3:c.1404A>G	NP_570848.1:p.Thr468=
NM_130837.3:c.1512A>G MANE Select	NP_570850.2:p.Thr504=