Canonical Allele Identifier: CA355793238

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380713A>G (hg19) ; chr3:g.193662924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662924A>G , CM000665.2:g.193662924A>G	GRCh38
NC_000003.11:g.193380713A>G , CM000665.1:g.193380713A>G	GRCh37
NC_000003.10:g.194863407A>G	NCBI36
NG_011605.1:g.74781A>G , LRG_337:g.74781A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2623A>G MANE Select	ENSP00000355324.2:p.Asn875Asp
ENST00000361828.7:c.2458A>G	ENSP00000354429.3:p.Asn820Asp
ENST00000361908.8:c.2569A>G	ENSP00000354681.3:p.Asn857Asp
ENST00000392436.7:c.2458A>G	ENSP00000376231.3:p.Asn820Asp
ENST00000392437.6:c.2512A>G	ENSP00000376232.2:p.Asn838Asp
ENST00000642289.1:c.2397A>G
ENST00000642445.1:c.2458A>G	ENSP00000495535.1:p.Asn820Asp
ENST00000642593.1:c.*683A>G	ENSP00000494273.1:n.*683A>G
ENST00000643329.1:c.2140A>G	ENSP00000493673.1:p.Asn714Asp
ENST00000643737.1:c.*2539A>G	ENSP00000494210.1:n.*2539A>G
ENST00000644595.1:c.2458A>G	ENSP00000494121.1:p.Asn820Asp
ENST00000644629.1:c.2045A>G
ENST00000644841.1:c.*942A>G	ENSP00000493988.1:n.*942A>G
ENST00000644959.1:c.2452A>G
ENST00000645553.1:c.2473A>G	ENSP00000494725.1:p.Asn825Asp
ENST00000646085.1:c.*1936A>G	ENSP00000494509.1:n.*1936A>G
ENST00000646277.1:c.*1059A>G	ENSP00000495289.1:n.*1059A>G
ENST00000646544.1:c.1446A>G
ENST00000646699.1:c.2397A>G
ENST00000646793.1:c.2350A>G	ENSP00000494512.1:p.Asn784Asp
ENST00000361150.6:c.2461A>G	ENSP00000354781.2:p.Asn821Asp
ENST00000361510.6:c.2623A>G	ENSP00000355324.2:p.Asn875Asp
ENST00000361715.6:c.2515A>G	ENSP00000355311.2:p.Asn839Asp
ENST00000361828.6:c.2512A>G	ENSP00000354429.2:p.Asn838Asp
ENST00000361908.7:c.2569A>G	ENSP00000354681.3:p.Asn857Asp
ENST00000392438.7:c.2458A>G	ENSP00000376233.3:p.Asn820Asp
ENST00000445863.1:c.34A>G	ENSP00000398358.1:p.Asn12Asp
NM_015560.2:c.2458A>G , LRG_337t1:c.2458A>G	NP_056375.2:p.Asn820Asp
NM_130831.2:c.2350A>G	NP_570844.1:p.Asn784Asp
NM_130832.2:c.2404A>G	NP_570845.1:p.Asn802Asp
NM_130833.2:c.2461A>G	NP_570846.1:p.Asn821Asp
NM_130834.2:c.2512A>G	NP_570847.2:p.Asn838Asp
NM_130835.2:c.2515A>G	NP_570848.1:p.Asn839Asp
NM_130836.2:c.2569A>G	NP_570849.2:p.Asn857Asp
NM_130837.2:c.2623A>G , LRG_337t2:c.2623A>G	NP_570850.2:p.Asn875Asp
XM_011512863.1:c.2623A>G	XP_011511165.1:p.Asn875Asp
XM_011512864.1:c.2569A>G	XP_011511166.1:p.Asn857Asp
XM_011512865.1:c.2512A>G	XP_011511167.1:p.Asn838Asp
XM_011512866.1:c.2461A>G	XP_011511168.1:p.Asn821Asp
XM_011512867.1:c.2458A>G	XP_011511169.1:p.Asn820Asp
XM_011512868.1:c.2350A>G	XP_011511170.1:p.Asn784Asp
XR_924835.1:n.582+5996T>C
NM_001354663.1:c.2089A>G	NP_001341592.1:p.Asn697Asp
NM_001354664.1:c.2086A>G	NP_001341593.1:p.Asn696Asp
XR_001740158.2:n.2877A>G
XR_001740159.2:n.2712A>G
XR_001741072.1:n.601-2839T>C
XR_001741074.1:n.475+7884T>C
XR_924835.2:n.600+5996T>C
NM_001354663.2:c.2089A>G	NP_001341592.1:p.Asn697Asp
NM_001354664.2:c.2086A>G	NP_001341593.1:p.Asn696Asp
NM_130831.3:c.2350A>G	NP_570844.1:p.Asn784Asp
NM_130832.3:c.2404A>G	NP_570845.1:p.Asn802Asp
NM_130834.3:c.2512A>G	NP_570847.2:p.Asn838Asp
NM_130836.3:c.2569A>G	NP_570849.2:p.Asn857Asp
NM_015560.3:c.2458A>G	NP_056375.2:p.Asn820Asp
NM_130833.3:c.2461A>G	NP_570846.1:p.Asn821Asp
NM_130835.3:c.2515A>G	NP_570848.1:p.Asn839Asp
NM_130837.3:c.2623A>G MANE Select	NP_570850.2:p.Asn875Asp