Canonical Allele Identifier: CA355793369

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380751G>T (hg19) ; chr3:g.193662962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662962G>T , CM000665.2:g.193662962G>T	GRCh38
NC_000003.11:g.193380751G>T , CM000665.1:g.193380751G>T	GRCh37
NC_000003.10:g.194863445G>T	NCBI36
NG_011605.1:g.74819G>T , LRG_337:g.74819G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2661G>T MANE Select	ENSP00000355324.2:p.Leu887Phe
ENST00000361828.7:c.2496G>T	ENSP00000354429.3:p.Leu832Phe
ENST00000361908.8:c.2607G>T	ENSP00000354681.3:p.Leu869Phe
ENST00000392436.7:c.2496G>T	ENSP00000376231.3:p.Leu832Phe
ENST00000392437.6:c.2550G>T	ENSP00000376232.2:p.Leu850Phe
ENST00000642289.1:c.2435G>T
ENST00000642445.1:c.2496G>T	ENSP00000495535.1:p.Leu832Phe
ENST00000642593.1:c.*721G>T	ENSP00000494273.1:n.*721G>T
ENST00000643329.1:c.2178G>T	ENSP00000493673.1:p.Leu726Phe
ENST00000643737.1:c.*2577G>T	ENSP00000494210.1:n.*2577G>T
ENST00000644595.1:c.2496G>T	ENSP00000494121.1:p.Leu832Phe
ENST00000644629.1:c.2083G>T
ENST00000644841.1:c.*980G>T	ENSP00000493988.1:n.*980G>T
ENST00000644959.1:c.2490G>T
ENST00000645553.1:c.2511G>T	ENSP00000494725.1:p.Leu837Phe
ENST00000646085.1:c.*1974G>T	ENSP00000494509.1:n.*1974G>T
ENST00000646277.1:c.*1097G>T	ENSP00000495289.1:n.*1097G>T
ENST00000646544.1:c.1484G>T
ENST00000646699.1:c.2435G>T
ENST00000646793.1:c.2388G>T	ENSP00000494512.1:p.Leu796Phe
ENST00000361150.6:c.2499G>T	ENSP00000354781.2:p.Leu833Phe
ENST00000361510.6:c.2661G>T	ENSP00000355324.2:p.Leu887Phe
ENST00000361715.6:c.2553G>T	ENSP00000355311.2:p.Leu851Phe
ENST00000361828.6:c.2550G>T	ENSP00000354429.2:p.Leu850Phe
ENST00000361908.7:c.2607G>T	ENSP00000354681.3:p.Leu869Phe
ENST00000392438.7:c.2496G>T	ENSP00000376233.3:p.Leu832Phe
ENST00000445863.1:c.72G>T	ENSP00000398358.1:p.Leu24Phe
NM_015560.2:c.2496G>T , LRG_337t1:c.2496G>T	NP_056375.2:p.Leu832Phe
NM_130831.2:c.2388G>T	NP_570844.1:p.Leu796Phe
NM_130832.2:c.2442G>T	NP_570845.1:p.Leu814Phe
NM_130833.2:c.2499G>T	NP_570846.1:p.Leu833Phe
NM_130834.2:c.2550G>T	NP_570847.2:p.Leu850Phe
NM_130835.2:c.2553G>T	NP_570848.1:p.Leu851Phe
NM_130836.2:c.2607G>T	NP_570849.2:p.Leu869Phe
NM_130837.2:c.2661G>T , LRG_337t2:c.2661G>T	NP_570850.2:p.Leu887Phe
XM_011512863.1:c.2661G>T	XP_011511165.1:p.Leu887Phe
XM_011512864.1:c.2607G>T	XP_011511166.1:p.Leu869Phe
XM_011512865.1:c.2550G>T	XP_011511167.1:p.Leu850Phe
XM_011512866.1:c.2499G>T	XP_011511168.1:p.Leu833Phe
XM_011512867.1:c.2496G>T	XP_011511169.1:p.Leu832Phe
XM_011512868.1:c.2388G>T	XP_011511170.1:p.Leu796Phe
XR_924835.1:n.582+5958C>A
NM_001354663.1:c.2127G>T	NP_001341592.1:p.Leu709Phe
NM_001354664.1:c.2124G>T	NP_001341593.1:p.Leu708Phe
XR_001740158.2:n.2915G>T
XR_001740159.2:n.2750G>T
XR_001741072.1:n.601-2877C>A
XR_001741074.1:n.475+7846C>A
XR_924835.2:n.600+5958C>A
NM_001354663.2:c.2127G>T	NP_001341592.1:p.Leu709Phe
NM_001354664.2:c.2124G>T	NP_001341593.1:p.Leu708Phe
NM_130831.3:c.2388G>T	NP_570844.1:p.Leu796Phe
NM_130832.3:c.2442G>T	NP_570845.1:p.Leu814Phe
NM_130834.3:c.2550G>T	NP_570847.2:p.Leu850Phe
NM_130836.3:c.2607G>T	NP_570849.2:p.Leu869Phe
NM_015560.3:c.2496G>T	NP_056375.2:p.Leu832Phe
NM_130833.3:c.2499G>T	NP_570846.1:p.Leu833Phe
NM_130835.3:c.2553G>T	NP_570848.1:p.Leu851Phe
NM_130837.3:c.2661G>T MANE Select	NP_570850.2:p.Leu887Phe