Canonical Allele Identifier: CA437441678

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380745A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662956A>T , CM000665.2:g.193662956A>T	GRCh38
NC_000003.11:g.193380745A>T , CM000665.1:g.193380745A>T	GRCh37
NC_000003.10:g.194863439A>T	NCBI36
NG_011605.1:g.74813A>T , LRG_337:g.74813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2655A>T MANE Select	ENSP00000355324.2:p.Pro885=
ENST00000361828.7:c.2490A>T	ENSP00000354429.3:p.Pro830=
ENST00000361908.8:c.2601A>T	ENSP00000354681.3:p.Pro867=
ENST00000392436.7:c.2490A>T	ENSP00000376231.3:p.Pro830=
ENST00000392437.6:c.2544A>T	ENSP00000376232.2:p.Pro848=
ENST00000642289.1:c.2429A>T
ENST00000642445.1:c.2490A>T	ENSP00000495535.1:p.Pro830=
ENST00000642593.1:c.*715A>T	ENSP00000494273.1:n.*715A>T
ENST00000643329.1:c.2172A>T	ENSP00000493673.1:p.Pro724=
ENST00000643737.1:c.*2571A>T	ENSP00000494210.1:n.*2571A>T
ENST00000644595.1:c.2490A>T	ENSP00000494121.1:p.Pro830=
ENST00000644629.1:c.2077A>T
ENST00000644841.1:c.*974A>T	ENSP00000493988.1:n.*974A>T
ENST00000644959.1:c.2484A>T
ENST00000645553.1:c.2505A>T	ENSP00000494725.1:p.Pro835=
ENST00000646085.1:c.*1968A>T	ENSP00000494509.1:n.*1968A>T
ENST00000646277.1:c.*1091A>T	ENSP00000495289.1:n.*1091A>T
ENST00000646544.1:c.1478A>T
ENST00000646699.1:c.2429A>T
ENST00000646793.1:c.2382A>T	ENSP00000494512.1:p.Pro794=
ENST00000361150.6:c.2493A>T	ENSP00000354781.2:p.Pro831=
ENST00000361510.6:c.2655A>T	ENSP00000355324.2:p.Pro885=
ENST00000361715.6:c.2547A>T	ENSP00000355311.2:p.Pro849=
ENST00000361828.6:c.2544A>T	ENSP00000354429.2:p.Pro848=
ENST00000361908.7:c.2601A>T	ENSP00000354681.3:p.Pro867=
ENST00000392438.7:c.2490A>T	ENSP00000376233.3:p.Pro830=
ENST00000445863.1:c.66A>T	ENSP00000398358.1:p.Pro22=
NM_015560.2:c.2490A>T , LRG_337t1:c.2490A>T	NP_056375.2:p.Pro830=
NM_130831.2:c.2382A>T	NP_570844.1:p.Pro794=
NM_130832.2:c.2436A>T	NP_570845.1:p.Pro812=
NM_130833.2:c.2493A>T	NP_570846.1:p.Pro831=
NM_130834.2:c.2544A>T	NP_570847.2:p.Pro848=
NM_130835.2:c.2547A>T	NP_570848.1:p.Pro849=
NM_130836.2:c.2601A>T	NP_570849.2:p.Pro867=
NM_130837.2:c.2655A>T , LRG_337t2:c.2655A>T	NP_570850.2:p.Pro885=
XM_011512863.1:c.2655A>T	XP_011511165.1:p.Pro885=
XM_011512864.1:c.2601A>T	XP_011511166.1:p.Pro867=
XM_011512865.1:c.2544A>T	XP_011511167.1:p.Pro848=
XM_011512866.1:c.2493A>T	XP_011511168.1:p.Pro831=
XM_011512867.1:c.2490A>T	XP_011511169.1:p.Pro830=
XM_011512868.1:c.2382A>T	XP_011511170.1:p.Pro794=
XR_924835.1:n.582+5964T>A
NM_001354663.1:c.2121A>T	NP_001341592.1:p.Pro707=
NM_001354664.1:c.2118A>T	NP_001341593.1:p.Pro706=
XR_001740158.2:n.2909A>T
XR_001740159.2:n.2744A>T
XR_001741072.1:n.601-2871T>A
XR_001741074.1:n.475+7852T>A
XR_924835.2:n.600+5964T>A
NM_001354663.2:c.2121A>T	NP_001341592.1:p.Pro707=
NM_001354664.2:c.2118A>T	NP_001341593.1:p.Pro706=
NM_130831.3:c.2382A>T	NP_570844.1:p.Pro794=
NM_130832.3:c.2436A>T	NP_570845.1:p.Pro812=
NM_130834.3:c.2544A>T	NP_570847.2:p.Pro848=
NM_130836.3:c.2601A>T	NP_570849.2:p.Pro867=
NM_015560.3:c.2490A>T	NP_056375.2:p.Pro830=
NM_130833.3:c.2493A>T	NP_570846.1:p.Pro831=
NM_130835.3:c.2547A>T	NP_570848.1:p.Pro849=
NM_130837.3:c.2655A>T MANE Select	NP_570850.2:p.Pro885=