Canonical Allele Identifier: CA355793150

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380672C>G (hg19) ; chr3:g.193662883C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662883C>G , CM000665.2:g.193662883C>G	GRCh38
NC_000003.11:g.193380672C>G , CM000665.1:g.193380672C>G	GRCh37
NC_000003.10:g.194863366C>G	NCBI36
NG_011605.1:g.74740C>G , LRG_337:g.74740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2582C>G MANE Select	ENSP00000355324.2:p.Pro861Arg
ENST00000361828.7:c.2417C>G	ENSP00000354429.3:p.Pro806Arg
ENST00000361908.8:c.2528C>G	ENSP00000354681.3:p.Pro843Arg
ENST00000392436.7:c.2417C>G	ENSP00000376231.3:p.Pro806Arg
ENST00000392437.6:c.2471C>G	ENSP00000376232.2:p.Pro824Arg
ENST00000642289.1:c.2356C>G
ENST00000642445.1:c.2417C>G	ENSP00000495535.1:p.Pro806Arg
ENST00000642593.1:c.*642C>G	ENSP00000494273.1:n.*642C>G
ENST00000643329.1:c.2099C>G	ENSP00000493673.1:p.Pro700Arg
ENST00000643737.1:c.*2498C>G	ENSP00000494210.1:n.*2498C>G
ENST00000644595.1:c.2417C>G	ENSP00000494121.1:p.Pro806Arg
ENST00000644629.1:c.2004C>G
ENST00000644841.1:c.*901C>G	ENSP00000493988.1:n.*901C>G
ENST00000644959.1:c.2411C>G
ENST00000645553.1:c.2432C>G	ENSP00000494725.1:p.Pro811Arg
ENST00000646085.1:c.*1895C>G	ENSP00000494509.1:n.*1895C>G
ENST00000646277.1:c.*1018C>G	ENSP00000495289.1:n.*1018C>G
ENST00000646544.1:c.1405C>G
ENST00000646699.1:c.2356C>G
ENST00000646793.1:c.2309C>G	ENSP00000494512.1:p.Pro770Arg
ENST00000361150.6:c.2420C>G	ENSP00000354781.2:p.Pro807Arg
ENST00000361510.6:c.2582C>G	ENSP00000355324.2:p.Pro861Arg
ENST00000361715.6:c.2474C>G	ENSP00000355311.2:p.Pro825Arg
ENST00000361828.6:c.2471C>G	ENSP00000354429.2:p.Pro824Arg
ENST00000361908.7:c.2528C>G	ENSP00000354681.3:p.Pro843Arg
ENST00000392438.7:c.2417C>G	ENSP00000376233.3:p.Pro806Arg
NM_015560.2:c.2417C>G , LRG_337t1:c.2417C>G	NP_056375.2:p.Pro806Arg
NM_130831.2:c.2309C>G	NP_570844.1:p.Pro770Arg
NM_130832.2:c.2363C>G	NP_570845.1:p.Pro788Arg
NM_130833.2:c.2420C>G	NP_570846.1:p.Pro807Arg
NM_130834.2:c.2471C>G	NP_570847.2:p.Pro824Arg
NM_130835.2:c.2474C>G	NP_570848.1:p.Pro825Arg
NM_130836.2:c.2528C>G	NP_570849.2:p.Pro843Arg
NM_130837.2:c.2582C>G , LRG_337t2:c.2582C>G	NP_570850.2:p.Pro861Arg
XM_011512863.1:c.2582C>G	XP_011511165.1:p.Pro861Arg
XM_011512864.1:c.2528C>G	XP_011511166.1:p.Pro843Arg
XM_011512865.1:c.2471C>G	XP_011511167.1:p.Pro824Arg
XM_011512866.1:c.2420C>G	XP_011511168.1:p.Pro807Arg
XM_011512867.1:c.2417C>G	XP_011511169.1:p.Pro806Arg
XM_011512868.1:c.2309C>G	XP_011511170.1:p.Pro770Arg
XR_924835.1:n.582+6037G>C
NM_001354663.1:c.2048C>G	NP_001341592.1:p.Pro683Arg
NM_001354664.1:c.2045C>G	NP_001341593.1:p.Pro682Arg
XR_001740158.2:n.2836C>G
XR_001740159.2:n.2671C>G
XR_001741072.1:n.601-2798G>C
XR_001741074.1:n.475+7925G>C
XR_924835.2:n.600+6037G>C
NM_001354663.2:c.2048C>G	NP_001341592.1:p.Pro683Arg
NM_001354664.2:c.2045C>G	NP_001341593.1:p.Pro682Arg
NM_130831.3:c.2309C>G	NP_570844.1:p.Pro770Arg
NM_130832.3:c.2363C>G	NP_570845.1:p.Pro788Arg
NM_130834.3:c.2471C>G	NP_570847.2:p.Pro824Arg
NM_130836.3:c.2528C>G	NP_570849.2:p.Pro843Arg
NM_015560.3:c.2417C>G	NP_056375.2:p.Pro806Arg
NM_130833.3:c.2420C>G	NP_570846.1:p.Pro807Arg
NM_130835.3:c.2474C>G	NP_570848.1:p.Pro825Arg
NM_130837.3:c.2582C>G MANE Select	NP_570850.2:p.Pro861Arg