Canonical Allele Identifier: CA355793345

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380747G>T (hg19) ; chr3:g.193662958G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662958G>T , CM000665.2:g.193662958G>T	GRCh38
NC_000003.11:g.193380747G>T , CM000665.1:g.193380747G>T	GRCh37
NC_000003.10:g.194863441G>T	NCBI36
NG_011605.1:g.74815G>T , LRG_337:g.74815G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2657G>T MANE Select	ENSP00000355324.2:p.Ser886Ile
ENST00000361828.7:c.2492G>T	ENSP00000354429.3:p.Ser831Ile
ENST00000361908.8:c.2603G>T	ENSP00000354681.3:p.Ser868Ile
ENST00000392436.7:c.2492G>T	ENSP00000376231.3:p.Ser831Ile
ENST00000392437.6:c.2546G>T	ENSP00000376232.2:p.Ser849Ile
ENST00000642289.1:c.2431G>T
ENST00000642445.1:c.2492G>T	ENSP00000495535.1:p.Ser831Ile
ENST00000642593.1:c.*717G>T	ENSP00000494273.1:n.*717G>T
ENST00000643329.1:c.2174G>T	ENSP00000493673.1:p.Ser725Ile
ENST00000643737.1:c.*2573G>T	ENSP00000494210.1:n.*2573G>T
ENST00000644595.1:c.2492G>T	ENSP00000494121.1:p.Ser831Ile
ENST00000644629.1:c.2079G>T
ENST00000644841.1:c.*976G>T	ENSP00000493988.1:n.*976G>T
ENST00000644959.1:c.2486G>T
ENST00000645553.1:c.2507G>T	ENSP00000494725.1:p.Ser836Ile
ENST00000646085.1:c.*1970G>T	ENSP00000494509.1:n.*1970G>T
ENST00000646277.1:c.*1093G>T	ENSP00000495289.1:n.*1093G>T
ENST00000646544.1:c.1480G>T
ENST00000646699.1:c.2431G>T
ENST00000646793.1:c.2384G>T	ENSP00000494512.1:p.Ser795Ile
ENST00000361150.6:c.2495G>T	ENSP00000354781.2:p.Ser832Ile
ENST00000361510.6:c.2657G>T	ENSP00000355324.2:p.Ser886Ile
ENST00000361715.6:c.2549G>T	ENSP00000355311.2:p.Ser850Ile
ENST00000361828.6:c.2546G>T	ENSP00000354429.2:p.Ser849Ile
ENST00000361908.7:c.2603G>T	ENSP00000354681.3:p.Ser868Ile
ENST00000392438.7:c.2492G>T	ENSP00000376233.3:p.Ser831Ile
ENST00000445863.1:c.68G>T	ENSP00000398358.1:p.Ser23Ile
NM_015560.2:c.2492G>T , LRG_337t1:c.2492G>T	NP_056375.2:p.Ser831Ile
NM_130831.2:c.2384G>T	NP_570844.1:p.Ser795Ile
NM_130832.2:c.2438G>T	NP_570845.1:p.Ser813Ile
NM_130833.2:c.2495G>T	NP_570846.1:p.Ser832Ile
NM_130834.2:c.2546G>T	NP_570847.2:p.Ser849Ile
NM_130835.2:c.2549G>T	NP_570848.1:p.Ser850Ile
NM_130836.2:c.2603G>T	NP_570849.2:p.Ser868Ile
NM_130837.2:c.2657G>T , LRG_337t2:c.2657G>T	NP_570850.2:p.Ser886Ile
XM_011512863.1:c.2657G>T	XP_011511165.1:p.Ser886Ile
XM_011512864.1:c.2603G>T	XP_011511166.1:p.Ser868Ile
XM_011512865.1:c.2546G>T	XP_011511167.1:p.Ser849Ile
XM_011512866.1:c.2495G>T	XP_011511168.1:p.Ser832Ile
XM_011512867.1:c.2492G>T	XP_011511169.1:p.Ser831Ile
XM_011512868.1:c.2384G>T	XP_011511170.1:p.Ser795Ile
XR_924835.1:n.582+5962C>A
NM_001354663.1:c.2123G>T	NP_001341592.1:p.Ser708Ile
NM_001354664.1:c.2120G>T	NP_001341593.1:p.Ser707Ile
XR_001740158.2:n.2911G>T
XR_001740159.2:n.2746G>T
XR_001741072.1:n.601-2873C>A
XR_001741074.1:n.475+7850C>A
XR_924835.2:n.600+5962C>A
NM_001354663.2:c.2123G>T	NP_001341592.1:p.Ser708Ile
NM_001354664.2:c.2120G>T	NP_001341593.1:p.Ser707Ile
NM_130831.3:c.2384G>T	NP_570844.1:p.Ser795Ile
NM_130832.3:c.2438G>T	NP_570845.1:p.Ser813Ile
NM_130834.3:c.2546G>T	NP_570847.2:p.Ser849Ile
NM_130836.3:c.2603G>T	NP_570849.2:p.Ser868Ile
NM_015560.3:c.2492G>T	NP_056375.2:p.Ser831Ile
NM_130833.3:c.2495G>T	NP_570846.1:p.Ser832Ile
NM_130835.3:c.2549G>T	NP_570848.1:p.Ser850Ile
NM_130837.3:c.2657G>T MANE Select	NP_570850.2:p.Ser886Ile