Canonical Allele Identifier: CA10617902

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193694922G>A , CM000665.2:g.193694922G>A	GRCh38
NC_000003.11:g.193412711G>A , CM000665.1:g.193412711G>A	GRCh37
NC_000003.10:g.194895405G>A	NCBI36
NG_011605.1:g.106779G>A , LRG_337:g.106779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.*322G>A MANE Select	ENSP00000355324.2:n.*322G>A
ENST00000361828.7:c.*322G>A	ENSP00000354429.3:n.*322G>A
ENST00000361908.8:c.*322G>A	ENSP00000354681.3:n.*322G>A
ENST00000392437.6:c.*322G>A	ENSP00000376232.2:n.*322G>A
ENST00000642289.1:c.3144G>A
ENST00000642445.1:c.*456G>A	ENSP00000495535.1:n.*456G>A
ENST00000642593.1:c.*1430G>A	ENSP00000494273.1:n.*1430G>A
ENST00000643329.1:c.*322G>A	ENSP00000493673.1:n.*322G>A
ENST00000643737.1:c.*3286G>A	ENSP00000494210.1:n.*3286G>A
ENST00000644595.1:c.*415G>A	ENSP00000494121.1:n.*415G>A
ENST00000644629.1:c.2792G>A
ENST00000644841.1:c.*1689G>A	ENSP00000493988.1:n.*1689G>A
ENST00000644959.1:c.3199G>A
ENST00000645553.1:c.*322G>A	ENSP00000494725.1:n.*322G>A
ENST00000646085.1:c.*2683G>A	ENSP00000494509.1:n.*2683G>A
ENST00000646277.1:c.*1806G>A	ENSP00000495289.1:n.*1806G>A
ENST00000646544.1:c.2193G>A
ENST00000646699.1:c.3144G>A
ENST00000646793.1:c.*322G>A	ENSP00000494512.1:n.*322G>A
ENST00000361150.6:c.*322G>A	ENSP00000354781.2:n.*322G>A
ENST00000361510.6:c.*322G>A	ENSP00000355324.2:n.*322G>A
ENST00000361715.6:c.*322G>A	ENSP00000355311.2:n.*322G>A
ENST00000361828.6:c.*322G>A	ENSP00000354429.2:n.*322G>A
ENST00000361908.7:c.*322G>A	ENSP00000354681.3:n.*322G>A
ENST00000392438.7:c.*322G>A	ENSP00000376233.3:n.*322G>A
ENST00000495261.1:n.1056G>A
NM_015560.2:c.*322G>A , LRG_337t1:c.*322G>A	NP_056375.2:n.*322G>A
NM_130831.2:c.*322G>A	NP_570844.1:n.*322G>A
NM_130832.2:c.*322G>A	NP_570845.1:n.*322G>A
NM_130833.2:c.*322G>A	NP_570846.1:n.*322G>A
NM_130834.2:c.*322G>A	NP_570847.2:n.*322G>A
NM_130835.2:c.*322G>A	NP_570848.1:n.*322G>A
NM_130836.2:c.*322G>A	NP_570849.2:n.*322G>A
NM_130837.2:c.*322G>A , LRG_337t2:c.*322G>A	NP_570850.2:n.*322G>A
NM_001354663.1:c.*322G>A	NP_001341592.1:n.*322G>A
NM_001354664.1:c.*322G>A	NP_001341593.1:n.*322G>A
XR_001740158.2:n.3624G>A
XR_001740159.2:n.3459G>A
NM_001354663.2:c.*322G>A	NP_001341592.1:n.*322G>A
NM_001354664.2:c.*322G>A	NP_001341593.1:n.*322G>A
NM_130831.3:c.*322G>A	NP_570844.1:n.*322G>A
NM_130832.3:c.*322G>A	NP_570845.1:n.*322G>A
NM_130834.3:c.*322G>A	NP_570847.2:n.*322G>A
NM_130836.3:c.*322G>A	NP_570849.2:n.*322G>A
NM_015560.3:c.*322G>A	NP_056375.2:n.*322G>A
NM_130833.3:c.*322G>A	NP_570846.1:n.*322G>A
NM_130835.3:c.*322G>A	NP_570848.1:n.*322G>A
NM_130837.3:c.*322G>A MANE Select	NP_570850.2:n.*322G>A