Canonical Allele Identifier: CA355788419

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355808T>G (hg19) ; chr3:g.193638019T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638019T>G , CM000665.2:g.193638019T>G	GRCh38
NC_000003.11:g.193355808T>G , CM000665.1:g.193355808T>G	GRCh37
NC_000003.10:g.194838502T>G	NCBI36
NG_011605.1:g.49876T>G , LRG_337:g.49876T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1103T>G MANE Select	ENSP00000355324.2:p.Ile368Arg
ENST00000361828.7:c.938T>G	ENSP00000354429.3:p.Ile313Arg
ENST00000361908.8:c.1049T>G	ENSP00000354681.3:p.Ile350Arg
ENST00000392436.7:c.938T>G	ENSP00000376231.3:p.Ile313Arg
ENST00000392437.6:c.992T>G	ENSP00000376232.2:p.Ile331Arg
ENST00000642289.1:c.1033T>G
ENST00000642445.1:c.938T>G	ENSP00000495535.1:p.Ile313Arg
ENST00000642593.1:c.938T>G	ENSP00000494273.1:p.Ile313Arg
ENST00000643329.1:c.620T>G	ENSP00000493673.1:p.Ile207Arg
ENST00000643737.1:c.*1019T>G	ENSP00000494210.1:n.*1019T>G
ENST00000644595.1:c.938T>G	ENSP00000494121.1:p.Ile313Arg
ENST00000644629.1:c.598T>G
ENST00000644841.1:c.566T>G	ENSP00000493988.1:p.Ile189Arg
ENST00000644959.1:c.907T>G
ENST00000645553.1:c.953T>G	ENSP00000494725.1:p.Ile318Arg
ENST00000646085.1:c.*416T>G	ENSP00000494509.1:n.*416T>G
ENST00000646277.1:c.1103T>G	ENSP00000495289.1:p.Ile368Arg
ENST00000646544.1:c.1T>G
ENST00000646699.1:c.1033T>G
ENST00000646793.1:c.830T>G	ENSP00000494512.1:p.Ile277Arg
ENST00000361150.6:c.941T>G	ENSP00000354781.2:p.Ile314Arg
ENST00000361510.6:c.1103T>G	ENSP00000355324.2:p.Ile368Arg
ENST00000361715.6:c.995T>G	ENSP00000355311.2:p.Ile332Arg
ENST00000361828.6:c.992T>G	ENSP00000354429.2:p.Ile331Arg
ENST00000361908.7:c.1049T>G	ENSP00000354681.3:p.Ile350Arg
ENST00000392438.7:c.938T>G	ENSP00000376233.3:p.Ile313Arg
ENST00000475899.1:n.134T>G
ENST00000495476.1:n.459T>G
ENST00000497189.5:n.424T>G
NM_015560.2:c.938T>G , LRG_337t1:c.938T>G	NP_056375.2:p.Ile313Arg
NM_130831.2:c.830T>G	NP_570844.1:p.Ile277Arg
NM_130832.2:c.884T>G	NP_570845.1:p.Ile295Arg
NM_130833.2:c.941T>G	NP_570846.1:p.Ile314Arg
NM_130834.2:c.992T>G	NP_570847.2:p.Ile331Arg
NM_130835.2:c.995T>G	NP_570848.1:p.Ile332Arg
NM_130836.2:c.1049T>G	NP_570849.2:p.Ile350Arg
NM_130837.2:c.1103T>G , LRG_337t2:c.1103T>G	NP_570850.2:p.Ile368Arg
XM_011512863.1:c.1103T>G	XP_011511165.1:p.Ile368Arg
XM_011512864.1:c.1049T>G	XP_011511166.1:p.Ile350Arg
XM_011512865.1:c.992T>G	XP_011511167.1:p.Ile331Arg
XM_011512866.1:c.941T>G	XP_011511168.1:p.Ile314Arg
XM_011512867.1:c.938T>G	XP_011511169.1:p.Ile313Arg
XM_011512868.1:c.830T>G	XP_011511170.1:p.Ile277Arg
XM_011512869.1:c.1103T>G	XP_011511171.1:p.Ile368Arg
NM_001354663.1:c.569T>G	NP_001341592.1:p.Ile190Arg
NM_001354664.1:c.566T>G	NP_001341593.1:p.Ile189Arg
XR_001740158.2:n.1332T>G
XR_001740159.2:n.1167T>G
NM_001354663.2:c.569T>G	NP_001341592.1:p.Ile190Arg
NM_001354664.2:c.566T>G	NP_001341593.1:p.Ile189Arg
NM_130831.3:c.830T>G	NP_570844.1:p.Ile277Arg
NM_130832.3:c.884T>G	NP_570845.1:p.Ile295Arg
NM_130834.3:c.992T>G	NP_570847.2:p.Ile331Arg
NM_130836.3:c.1049T>G	NP_570849.2:p.Ile350Arg
NM_015560.3:c.938T>G	NP_056375.2:p.Ile313Arg
NM_130833.3:c.941T>G	NP_570846.1:p.Ile314Arg
NM_130835.3:c.995T>G	NP_570848.1:p.Ile332Arg
NM_130837.3:c.1103T>G MANE Select	NP_570850.2:p.Ile368Arg