Canonical Allele Identifier: CA355793004

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380614G>T (hg19) ; chr3:g.193662825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662825G>T , CM000665.2:g.193662825G>T	GRCh38
NC_000003.11:g.193380614G>T , CM000665.1:g.193380614G>T	GRCh37
NC_000003.10:g.194863308G>T	NCBI36
NG_011605.1:g.74682G>T , LRG_337:g.74682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2524G>T MANE Select	ENSP00000355324.2:p.Val842Phe
ENST00000361828.7:c.2359G>T	ENSP00000354429.3:p.Val787Phe
ENST00000361908.8:c.2470G>T	ENSP00000354681.3:p.Val824Phe
ENST00000392436.7:c.2359G>T	ENSP00000376231.3:p.Val787Phe
ENST00000392437.6:c.2413G>T	ENSP00000376232.2:p.Val805Phe
ENST00000642289.1:c.2298G>T
ENST00000642445.1:c.2359G>T	ENSP00000495535.1:p.Val787Phe
ENST00000642593.1:c.*584G>T	ENSP00000494273.1:n.*584G>T
ENST00000643329.1:c.2041G>T	ENSP00000493673.1:p.Val681Phe
ENST00000643737.1:c.*2440G>T	ENSP00000494210.1:n.*2440G>T
ENST00000644595.1:c.2359G>T	ENSP00000494121.1:p.Val787Phe
ENST00000644629.1:c.1946G>T
ENST00000644841.1:c.*843G>T	ENSP00000493988.1:n.*843G>T
ENST00000644959.1:c.2353G>T
ENST00000645553.1:c.2374G>T	ENSP00000494725.1:p.Val792Phe
ENST00000646085.1:c.*1837G>T	ENSP00000494509.1:n.*1837G>T
ENST00000646277.1:c.*960G>T	ENSP00000495289.1:n.*960G>T
ENST00000646544.1:c.1347G>T
ENST00000646699.1:c.2298G>T
ENST00000646793.1:c.2251G>T	ENSP00000494512.1:p.Val751Phe
ENST00000361150.6:c.2362G>T	ENSP00000354781.2:p.Val788Phe
ENST00000361510.6:c.2524G>T	ENSP00000355324.2:p.Val842Phe
ENST00000361715.6:c.2416G>T	ENSP00000355311.2:p.Val806Phe
ENST00000361828.6:c.2413G>T	ENSP00000354429.2:p.Val805Phe
ENST00000361908.7:c.2470G>T	ENSP00000354681.3:p.Val824Phe
ENST00000392438.7:c.2359G>T	ENSP00000376233.3:p.Val787Phe
NM_015560.2:c.2359G>T , LRG_337t1:c.2359G>T	NP_056375.2:p.Val787Phe
NM_130831.2:c.2251G>T	NP_570844.1:p.Val751Phe
NM_130832.2:c.2305G>T	NP_570845.1:p.Val769Phe
NM_130833.2:c.2362G>T	NP_570846.1:p.Val788Phe
NM_130834.2:c.2413G>T	NP_570847.2:p.Val805Phe
NM_130835.2:c.2416G>T	NP_570848.1:p.Val806Phe
NM_130836.2:c.2470G>T	NP_570849.2:p.Val824Phe
NM_130837.2:c.2524G>T , LRG_337t2:c.2524G>T	NP_570850.2:p.Val842Phe
XM_011512863.1:c.2524G>T	XP_011511165.1:p.Val842Phe
XM_011512864.1:c.2470G>T	XP_011511166.1:p.Val824Phe
XM_011512865.1:c.2413G>T	XP_011511167.1:p.Val805Phe
XM_011512866.1:c.2362G>T	XP_011511168.1:p.Val788Phe
XM_011512867.1:c.2359G>T	XP_011511169.1:p.Val787Phe
XM_011512868.1:c.2251G>T	XP_011511170.1:p.Val751Phe
XR_924835.1:n.582+6095C>A
NM_001354663.1:c.1990G>T	NP_001341592.1:p.Val664Phe
NM_001354664.1:c.1987G>T	NP_001341593.1:p.Val663Phe
XR_001740158.2:n.2778G>T
XR_001740159.2:n.2613G>T
XR_001741072.1:n.601-2740C>A
XR_001741074.1:n.475+7983C>A
XR_924835.2:n.600+6095C>A
NM_001354663.2:c.1990G>T	NP_001341592.1:p.Val664Phe
NM_001354664.2:c.1987G>T	NP_001341593.1:p.Val663Phe
NM_130831.3:c.2251G>T	NP_570844.1:p.Val751Phe
NM_130832.3:c.2305G>T	NP_570845.1:p.Val769Phe
NM_130834.3:c.2413G>T	NP_570847.2:p.Val805Phe
NM_130836.3:c.2470G>T	NP_570849.2:p.Val824Phe
NM_015560.3:c.2359G>T	NP_056375.2:p.Val787Phe
NM_130833.3:c.2362G>T	NP_570846.1:p.Val788Phe
NM_130835.3:c.2416G>T	NP_570848.1:p.Val806Phe
NM_130837.3:c.2524G>T MANE Select	NP_570850.2:p.Val842Phe