Canonical Allele Identifier: CA355793210

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380699C>A (hg19) ; chr3:g.193662910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662910C>A , CM000665.2:g.193662910C>A	GRCh38
NC_000003.11:g.193380699C>A , CM000665.1:g.193380699C>A	GRCh37
NC_000003.10:g.194863393C>A	NCBI36
NG_011605.1:g.74767C>A , LRG_337:g.74767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2609C>A MANE Select	ENSP00000355324.2:p.Thr870Asn
ENST00000361828.7:c.2444C>A	ENSP00000354429.3:p.Thr815Asn
ENST00000361908.8:c.2555C>A	ENSP00000354681.3:p.Thr852Asn
ENST00000392436.7:c.2444C>A	ENSP00000376231.3:p.Thr815Asn
ENST00000392437.6:c.2498C>A	ENSP00000376232.2:p.Thr833Asn
ENST00000642289.1:c.2383C>A
ENST00000642445.1:c.2444C>A	ENSP00000495535.1:p.Thr815Asn
ENST00000642593.1:c.*669C>A	ENSP00000494273.1:n.*669C>A
ENST00000643329.1:c.2126C>A	ENSP00000493673.1:p.Thr709Asn
ENST00000643737.1:c.*2525C>A	ENSP00000494210.1:n.*2525C>A
ENST00000644595.1:c.2444C>A	ENSP00000494121.1:p.Thr815Asn
ENST00000644629.1:c.2031C>A
ENST00000644841.1:c.*928C>A	ENSP00000493988.1:n.*928C>A
ENST00000644959.1:c.2438C>A
ENST00000645553.1:c.2459C>A	ENSP00000494725.1:p.Thr820Asn
ENST00000646085.1:c.*1922C>A	ENSP00000494509.1:n.*1922C>A
ENST00000646277.1:c.*1045C>A	ENSP00000495289.1:n.*1045C>A
ENST00000646544.1:c.1432C>A
ENST00000646699.1:c.2383C>A
ENST00000646793.1:c.2336C>A	ENSP00000494512.1:p.Thr779Asn
ENST00000361150.6:c.2447C>A	ENSP00000354781.2:p.Thr816Asn
ENST00000361510.6:c.2609C>A	ENSP00000355324.2:p.Thr870Asn
ENST00000361715.6:c.2501C>A	ENSP00000355311.2:p.Thr834Asn
ENST00000361828.6:c.2498C>A	ENSP00000354429.2:p.Thr833Asn
ENST00000361908.7:c.2555C>A	ENSP00000354681.3:p.Thr852Asn
ENST00000392438.7:c.2444C>A	ENSP00000376233.3:p.Thr815Asn
ENST00000445863.1:c.20C>A	ENSP00000398358.1:p.Thr7Asn
NM_015560.2:c.2444C>A , LRG_337t1:c.2444C>A	NP_056375.2:p.Thr815Asn
NM_130831.2:c.2336C>A	NP_570844.1:p.Thr779Asn
NM_130832.2:c.2390C>A	NP_570845.1:p.Thr797Asn
NM_130833.2:c.2447C>A	NP_570846.1:p.Thr816Asn
NM_130834.2:c.2498C>A	NP_570847.2:p.Thr833Asn
NM_130835.2:c.2501C>A	NP_570848.1:p.Thr834Asn
NM_130836.2:c.2555C>A	NP_570849.2:p.Thr852Asn
NM_130837.2:c.2609C>A , LRG_337t2:c.2609C>A	NP_570850.2:p.Thr870Asn
XM_011512863.1:c.2609C>A	XP_011511165.1:p.Thr870Asn
XM_011512864.1:c.2555C>A	XP_011511166.1:p.Thr852Asn
XM_011512865.1:c.2498C>A	XP_011511167.1:p.Thr833Asn
XM_011512866.1:c.2447C>A	XP_011511168.1:p.Thr816Asn
XM_011512867.1:c.2444C>A	XP_011511169.1:p.Thr815Asn
XM_011512868.1:c.2336C>A	XP_011511170.1:p.Thr779Asn
XR_924835.1:n.582+6010G>T
NM_001354663.1:c.2075C>A	NP_001341592.1:p.Thr692Asn
NM_001354664.1:c.2072C>A	NP_001341593.1:p.Thr691Asn
XR_001740158.2:n.2863C>A
XR_001740159.2:n.2698C>A
XR_001741072.1:n.601-2825G>T
XR_001741074.1:n.475+7898G>T
XR_924835.2:n.600+6010G>T
NM_001354663.2:c.2075C>A	NP_001341592.1:p.Thr692Asn
NM_001354664.2:c.2072C>A	NP_001341593.1:p.Thr691Asn
NM_130831.3:c.2336C>A	NP_570844.1:p.Thr779Asn
NM_130832.3:c.2390C>A	NP_570845.1:p.Thr797Asn
NM_130834.3:c.2498C>A	NP_570847.2:p.Thr833Asn
NM_130836.3:c.2555C>A	NP_570849.2:p.Thr852Asn
NM_015560.3:c.2444C>A	NP_056375.2:p.Thr815Asn
NM_130833.3:c.2447C>A	NP_570846.1:p.Thr816Asn
NM_130835.3:c.2501C>A	NP_570848.1:p.Thr834Asn
NM_130837.3:c.2609C>A MANE Select	NP_570850.2:p.Thr870Asn