Canonical Allele Identifier: CA355788330

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355783T>G (hg19) ; chr3:g.193637994T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637994T>G , CM000665.2:g.193637994T>G	GRCh38
NC_000003.11:g.193355783T>G , CM000665.1:g.193355783T>G	GRCh37
NC_000003.10:g.194838477T>G	NCBI36
NG_011605.1:g.49851T>G , LRG_337:g.49851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1078T>G MANE Select	ENSP00000355324.2:p.Leu360Val
ENST00000361828.7:c.913T>G	ENSP00000354429.3:p.Leu305Val
ENST00000361908.8:c.1024T>G	ENSP00000354681.3:p.Leu342Val
ENST00000392436.7:c.913T>G	ENSP00000376231.3:p.Leu305Val
ENST00000392437.6:c.967T>G	ENSP00000376232.2:p.Leu323Val
ENST00000642289.1:c.1008T>G
ENST00000642445.1:c.913T>G	ENSP00000495535.1:p.Leu305Val
ENST00000642593.1:c.913T>G	ENSP00000494273.1:p.Leu305Val
ENST00000643329.1:c.595T>G	ENSP00000493673.1:p.Leu199Val
ENST00000643737.1:c.*994T>G	ENSP00000494210.1:n.*994T>G
ENST00000644595.1:c.913T>G	ENSP00000494121.1:p.Leu305Val
ENST00000644629.1:c.573T>G
ENST00000644841.1:c.541T>G	ENSP00000493988.1:p.Leu181Val
ENST00000644959.1:c.882T>G
ENST00000645553.1:c.928T>G	ENSP00000494725.1:p.Leu310Val
ENST00000646085.1:c.*391T>G	ENSP00000494509.1:n.*391T>G
ENST00000646277.1:c.1078T>G	ENSP00000495289.1:p.Leu360Val
ENST00000646699.1:c.1008T>G
ENST00000646793.1:c.805T>G	ENSP00000494512.1:p.Leu269Val
ENST00000361150.6:c.916T>G	ENSP00000354781.2:p.Leu306Val
ENST00000361510.6:c.1078T>G	ENSP00000355324.2:p.Leu360Val
ENST00000361715.6:c.970T>G	ENSP00000355311.2:p.Leu324Val
ENST00000361828.6:c.967T>G	ENSP00000354429.2:p.Leu323Val
ENST00000361908.7:c.1024T>G	ENSP00000354681.3:p.Leu342Val
ENST00000392438.7:c.913T>G	ENSP00000376233.3:p.Leu305Val
ENST00000475899.1:n.109T>G
ENST00000495476.1:n.434T>G
ENST00000497189.5:n.399T>G
NM_015560.2:c.913T>G , LRG_337t1:c.913T>G	NP_056375.2:p.Leu305Val
NM_130831.2:c.805T>G	NP_570844.1:p.Leu269Val
NM_130832.2:c.859T>G	NP_570845.1:p.Leu287Val
NM_130833.2:c.916T>G	NP_570846.1:p.Leu306Val
NM_130834.2:c.967T>G	NP_570847.2:p.Leu323Val
NM_130835.2:c.970T>G	NP_570848.1:p.Leu324Val
NM_130836.2:c.1024T>G	NP_570849.2:p.Leu342Val
NM_130837.2:c.1078T>G , LRG_337t2:c.1078T>G	NP_570850.2:p.Leu360Val
XM_011512863.1:c.1078T>G	XP_011511165.1:p.Leu360Val
XM_011512864.1:c.1024T>G	XP_011511166.1:p.Leu342Val
XM_011512865.1:c.967T>G	XP_011511167.1:p.Leu323Val
XM_011512866.1:c.916T>G	XP_011511168.1:p.Leu306Val
XM_011512867.1:c.913T>G	XP_011511169.1:p.Leu305Val
XM_011512868.1:c.805T>G	XP_011511170.1:p.Leu269Val
XM_011512869.1:c.1078T>G	XP_011511171.1:p.Leu360Val
NM_001354663.1:c.544T>G	NP_001341592.1:p.Leu182Val
NM_001354664.1:c.541T>G	NP_001341593.1:p.Leu181Val
XR_001740158.2:n.1307T>G
XR_001740159.2:n.1142T>G
NM_001354663.2:c.544T>G	NP_001341592.1:p.Leu182Val
NM_001354664.2:c.541T>G	NP_001341593.1:p.Leu181Val
NM_130831.3:c.805T>G	NP_570844.1:p.Leu269Val
NM_130832.3:c.859T>G	NP_570845.1:p.Leu287Val
NM_130834.3:c.967T>G	NP_570847.2:p.Leu323Val
NM_130836.3:c.1024T>G	NP_570849.2:p.Leu342Val
NM_015560.3:c.913T>G	NP_056375.2:p.Leu305Val
NM_130833.3:c.916T>G	NP_570846.1:p.Leu306Val
NM_130835.3:c.970T>G	NP_570848.1:p.Leu324Val
NM_130837.3:c.1078T>G MANE Select	NP_570850.2:p.Leu360Val