Canonical Allele Identifier: CA355793359

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380750T>A (hg19) ; chr3:g.193662961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662961T>A , CM000665.2:g.193662961T>A	GRCh38
NC_000003.11:g.193380750T>A , CM000665.1:g.193380750T>A	GRCh37
NC_000003.10:g.194863444T>A	NCBI36
NG_011605.1:g.74818T>A , LRG_337:g.74818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2660T>A MANE Select	ENSP00000355324.2:p.Leu887Ter
ENST00000361828.7:c.2495T>A	ENSP00000354429.3:p.Leu832Ter
ENST00000361908.8:c.2606T>A	ENSP00000354681.3:p.Leu869Ter
ENST00000392436.7:c.2495T>A	ENSP00000376231.3:p.Leu832Ter
ENST00000392437.6:c.2549T>A	ENSP00000376232.2:p.Leu850Ter
ENST00000642289.1:c.2434T>A
ENST00000642445.1:c.2495T>A	ENSP00000495535.1:p.Leu832Ter
ENST00000642593.1:c.*720T>A	ENSP00000494273.1:n.*720T>A
ENST00000643329.1:c.2177T>A	ENSP00000493673.1:p.Leu726Ter
ENST00000643737.1:c.*2576T>A	ENSP00000494210.1:n.*2576T>A
ENST00000644595.1:c.2495T>A	ENSP00000494121.1:p.Leu832Ter
ENST00000644629.1:c.2082T>A
ENST00000644841.1:c.*979T>A	ENSP00000493988.1:n.*979T>A
ENST00000644959.1:c.2489T>A
ENST00000645553.1:c.2510T>A	ENSP00000494725.1:p.Leu837Ter
ENST00000646085.1:c.*1973T>A	ENSP00000494509.1:n.*1973T>A
ENST00000646277.1:c.*1096T>A	ENSP00000495289.1:n.*1096T>A
ENST00000646544.1:c.1483T>A
ENST00000646699.1:c.2434T>A
ENST00000646793.1:c.2387T>A	ENSP00000494512.1:p.Leu796Ter
ENST00000361150.6:c.2498T>A	ENSP00000354781.2:p.Leu833Ter
ENST00000361510.6:c.2660T>A	ENSP00000355324.2:p.Leu887Ter
ENST00000361715.6:c.2552T>A	ENSP00000355311.2:p.Leu851Ter
ENST00000361828.6:c.2549T>A	ENSP00000354429.2:p.Leu850Ter
ENST00000361908.7:c.2606T>A	ENSP00000354681.3:p.Leu869Ter
ENST00000392438.7:c.2495T>A	ENSP00000376233.3:p.Leu832Ter
ENST00000445863.1:c.71T>A	ENSP00000398358.1:p.Leu24Ter
NM_015560.2:c.2495T>A , LRG_337t1:c.2495T>A	NP_056375.2:p.Leu832Ter
NM_130831.2:c.2387T>A	NP_570844.1:p.Leu796Ter
NM_130832.2:c.2441T>A	NP_570845.1:p.Leu814Ter
NM_130833.2:c.2498T>A	NP_570846.1:p.Leu833Ter
NM_130834.2:c.2549T>A	NP_570847.2:p.Leu850Ter
NM_130835.2:c.2552T>A	NP_570848.1:p.Leu851Ter
NM_130836.2:c.2606T>A	NP_570849.2:p.Leu869Ter
NM_130837.2:c.2660T>A , LRG_337t2:c.2660T>A	NP_570850.2:p.Leu887Ter
XM_011512863.1:c.2660T>A	XP_011511165.1:p.Leu887Ter
XM_011512864.1:c.2606T>A	XP_011511166.1:p.Leu869Ter
XM_011512865.1:c.2549T>A	XP_011511167.1:p.Leu850Ter
XM_011512866.1:c.2498T>A	XP_011511168.1:p.Leu833Ter
XM_011512867.1:c.2495T>A	XP_011511169.1:p.Leu832Ter
XM_011512868.1:c.2387T>A	XP_011511170.1:p.Leu796Ter
XR_924835.1:n.582+5959A>T
NM_001354663.1:c.2126T>A	NP_001341592.1:p.Leu709Ter
NM_001354664.1:c.2123T>A	NP_001341593.1:p.Leu708Ter
XR_001740158.2:n.2914T>A
XR_001740159.2:n.2749T>A
XR_001741072.1:n.601-2876A>T
XR_001741074.1:n.475+7847A>T
XR_924835.2:n.600+5959A>T
NM_001354663.2:c.2126T>A	NP_001341592.1:p.Leu709Ter
NM_001354664.2:c.2123T>A	NP_001341593.1:p.Leu708Ter
NM_130831.3:c.2387T>A	NP_570844.1:p.Leu796Ter
NM_130832.3:c.2441T>A	NP_570845.1:p.Leu814Ter
NM_130834.3:c.2549T>A	NP_570847.2:p.Leu850Ter
NM_130836.3:c.2606T>A	NP_570849.2:p.Leu869Ter
NM_015560.3:c.2495T>A	NP_056375.2:p.Leu832Ter
NM_130833.3:c.2498T>A	NP_570846.1:p.Leu833Ter
NM_130835.3:c.2552T>A	NP_570848.1:p.Leu851Ter
NM_130837.3:c.2660T>A MANE Select	NP_570850.2:p.Leu887Ter