Canonical Allele Identifier: CA2697557028

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2775430
• ClinVar RCV Id: RCV003582175

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643376dup , CM000665.2:g.193643376dup	GRCh38
NC_000003.11:g.193361165dup , CM000665.1:g.193361165dup	GRCh37
NC_000003.10:g.194843859dup	NCBI36
NG_011605.1:g.55233dup , LRG_337:g.55233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1309dup MANE Select	ENSP00000355324.2:p.Ile437AsnfsTer17
ENST00000361828.7:c.1144dup	ENSP00000354429.3:p.Ile382AsnfsTer17
ENST00000361908.8:c.1255dup	ENSP00000354681.3:p.Ile419AsnfsTer17
ENST00000392436.7:c.1144dup	ENSP00000376231.3:p.Ile382AsnfsTer17
ENST00000392437.6:c.1198dup	ENSP00000376232.2:p.Ile400AsnfsTer17
ENST00000642289.1:c.1083dup
ENST00000642445.1:c.1144dup	ENSP00000495535.1:p.Ile382AsnfsTer17
ENST00000642593.1:c.1144dup	ENSP00000494273.1:p.Ile382AsnfsTer17
ENST00000643329.1:c.826dup	ENSP00000493673.1:p.Ile276AsnfsTer17
ENST00000643737.1:c.*1225dup	ENSP00000494210.1:n.*1225dup
ENST00000644595.1:c.1144dup	ENSP00000494121.1:p.Ile382AsnfsTer17
ENST00000644629.1:c.804dup
ENST00000644841.1:c.772dup	ENSP00000493988.1:p.Ile258AsnfsTer17
ENST00000644959.1:c.1113dup
ENST00000645553.1:c.1159dup	ENSP00000494725.1:p.Ile387AsnfsTer17
ENST00000646085.1:c.*622dup	ENSP00000494509.1:n.*622dup
ENST00000646277.1:c.1309dup	ENSP00000495289.1:p.Ile437AsnfsTer17
ENST00000646544.1:c.132dup
ENST00000646699.1:c.1083dup
ENST00000646793.1:c.1036dup	ENSP00000494512.1:p.Ile346AsnfsTer17
ENST00000361150.6:c.1147dup	ENSP00000354781.2:p.Ile383AsnfsTer17
ENST00000361510.6:c.1309dup	ENSP00000355324.2:p.Ile437AsnfsTer17
ENST00000361715.6:c.1201dup	ENSP00000355311.2:p.Ile401AsnfsTer17
ENST00000361828.6:c.1198dup	ENSP00000354429.2:p.Ile400AsnfsTer17
ENST00000361908.7:c.1255dup	ENSP00000354681.3:p.Ile419AsnfsTer17
ENST00000392438.7:c.1144dup	ENSP00000376233.3:p.Ile382AsnfsTer17
ENST00000475899.1:n.340dup
NM_015560.2:c.1144dup , LRG_337t1:c.1144dup	NP_056375.2:p.Ile382AsnfsTer17
NM_130831.2:c.1036dup	NP_570844.1:p.Ile346AsnfsTer17
NM_130832.2:c.1090dup	NP_570845.1:p.Ile364AsnfsTer17
NM_130833.2:c.1147dup	NP_570846.1:p.Ile383AsnfsTer17
NM_130834.2:c.1198dup	NP_570847.2:p.Ile400AsnfsTer17
NM_130835.2:c.1201dup	NP_570848.1:p.Ile401AsnfsTer17
NM_130836.2:c.1255dup	NP_570849.2:p.Ile419AsnfsTer17
NM_130837.2:c.1309dup , LRG_337t2:c.1309dup	NP_570850.2:p.Ile437AsnfsTer17
XM_011512863.1:c.1309dup	XP_011511165.1:p.Ile437AsnfsTer17
XM_011512864.1:c.1255dup	XP_011511166.1:p.Ile419AsnfsTer17
XM_011512865.1:c.1198dup	XP_011511167.1:p.Ile400AsnfsTer17
XM_011512866.1:c.1147dup	XP_011511168.1:p.Ile383AsnfsTer17
XM_011512867.1:c.1144dup	XP_011511169.1:p.Ile382AsnfsTer17
XM_011512868.1:c.1036dup	XP_011511170.1:p.Ile346AsnfsTer17
XM_011512869.1:c.1309dup	XP_011511171.1:p.Ile437AsnfsTer17
NM_001354663.1:c.775dup	NP_001341592.1:p.Ile259AsnfsTer17
NM_001354664.1:c.772dup	NP_001341593.1:p.Ile258AsnfsTer17
XR_001740158.2:n.1538dup
XR_001740159.2:n.1373dup
NM_001354663.2:c.775dup	NP_001341592.1:p.Ile259AsnfsTer17
NM_001354664.2:c.772dup	NP_001341593.1:p.Ile258AsnfsTer17
NM_130831.3:c.1036dup	NP_570844.1:p.Ile346AsnfsTer17
NM_130832.3:c.1090dup	NP_570845.1:p.Ile364AsnfsTer17
NM_130834.3:c.1198dup	NP_570847.2:p.Ile400AsnfsTer17
NM_130836.3:c.1255dup	NP_570849.2:p.Ile419AsnfsTer17
NM_015560.3:c.1144dup	NP_056375.2:p.Ile382AsnfsTer17
NM_130833.3:c.1147dup	NP_570846.1:p.Ile383AsnfsTer17
NM_130835.3:c.1201dup	NP_570848.1:p.Ile401AsnfsTer17
NM_130837.3:c.1309dup MANE Select	NP_570850.2:p.Ile437AsnfsTer17