Canonical Allele Identifier: CA1139655833

Gene: OPA1

Linked Data

• ClinVar Variation Id: 871021
• ClinVar RCV Id: RCV001090766
• dbSNP Id: rs1733978179

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642772dup , CM000665.2:g.193642772dup	GRCh38
NC_000003.11:g.193360561dup , CM000665.1:g.193360561dup	GRCh37
NC_000003.10:g.194843255dup	NCBI36
NG_011605.1:g.54629dup , LRG_337:g.54629dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1157dup MANE Select	ENSP00000355324.2:p.Ser387GlufsTer2
ENST00000361828.7:c.992dup	ENSP00000354429.3:p.Ser332GlufsTer2
ENST00000361908.8:c.1103dup	ENSP00000354681.3:p.Ser369GlufsTer2
ENST00000392436.7:c.992dup	ENSP00000376231.3:p.Ser332GlufsTer2
ENST00000392437.6:c.1046dup	ENSP00000376232.2:p.Ser350GlufsTer2
ENST00000642289.1:c.1080-601dup
ENST00000642445.1:c.992dup	ENSP00000495535.1:p.Ser332GlufsTer2
ENST00000642593.1:c.992dup	ENSP00000494273.1:p.Ser332GlufsTer2
ENST00000643329.1:c.674dup	ENSP00000493673.1:p.Ser226GlufsTer2
ENST00000643737.1:c.*1073dup	ENSP00000494210.1:n.*1073dup
ENST00000644595.1:c.992dup	ENSP00000494121.1:p.Ser332GlufsTer2
ENST00000644629.1:c.652dup
ENST00000644841.1:c.620dup	ENSP00000493988.1:p.Ser208GlufsTer2
ENST00000644959.1:c.961dup
ENST00000645553.1:c.1007dup	ENSP00000494725.1:p.Ser337GlufsTer2
ENST00000646085.1:c.*470dup	ENSP00000494509.1:n.*470dup
ENST00000646277.1:c.1157dup	ENSP00000495289.1:p.Ser387GlufsTer2
ENST00000646544.1:c.55dup
ENST00000646699.1:c.1080-601dup
ENST00000646793.1:c.884dup	ENSP00000494512.1:p.Ser296GlufsTer2
ENST00000361150.6:c.995dup	ENSP00000354781.2:p.Ser333GlufsTer2
ENST00000361510.6:c.1157dup	ENSP00000355324.2:p.Ser387GlufsTer2
ENST00000361715.6:c.1049dup	ENSP00000355311.2:p.Ser351GlufsTer2
ENST00000361828.6:c.1046dup	ENSP00000354429.2:p.Ser350GlufsTer2
ENST00000361908.7:c.1103dup	ENSP00000354681.3:p.Ser369GlufsTer2
ENST00000392438.7:c.992dup	ENSP00000376233.3:p.Ser332GlufsTer2
ENST00000475899.1:n.188dup
ENST00000497189.5:n.478dup
NM_015560.2:c.992dup , LRG_337t1:c.992dup	NP_056375.2:p.Ser332GlufsTer2
NM_130831.2:c.884dup	NP_570844.1:p.Ser296GlufsTer2
NM_130832.2:c.938dup	NP_570845.1:p.Ser314GlufsTer2
NM_130833.2:c.995dup	NP_570846.1:p.Ser333GlufsTer2
NM_130834.2:c.1046dup	NP_570847.2:p.Ser350GlufsTer2
NM_130835.2:c.1049dup	NP_570848.1:p.Ser351GlufsTer2
NM_130836.2:c.1103dup	NP_570849.2:p.Ser369GlufsTer2
NM_130837.2:c.1157dup , LRG_337t2:c.1157dup	NP_570850.2:p.Ser387GlufsTer2
XM_011512863.1:c.1157dup	XP_011511165.1:p.Ser387GlufsTer2
XM_011512864.1:c.1103dup	XP_011511166.1:p.Ser369GlufsTer2
XM_011512865.1:c.1046dup	XP_011511167.1:p.Ser350GlufsTer2
XM_011512866.1:c.995dup	XP_011511168.1:p.Ser333GlufsTer2
XM_011512867.1:c.992dup	XP_011511169.1:p.Ser332GlufsTer2
XM_011512868.1:c.884dup	XP_011511170.1:p.Ser296GlufsTer2
XM_011512869.1:c.1157dup	XP_011511171.1:p.Ser387GlufsTer2
NM_001354663.1:c.623dup	NP_001341592.1:p.Ser209GlufsTer2
NM_001354664.1:c.620dup	NP_001341593.1:p.Ser208GlufsTer2
XR_001740158.2:n.1386dup
XR_001740159.2:n.1221dup
NM_001354663.2:c.623dup	NP_001341592.1:p.Ser209GlufsTer2
NM_001354664.2:c.620dup	NP_001341593.1:p.Ser208GlufsTer2
NM_130831.3:c.884dup	NP_570844.1:p.Ser296GlufsTer2
NM_130832.3:c.938dup	NP_570845.1:p.Ser314GlufsTer2
NM_130834.3:c.1046dup	NP_570847.2:p.Ser350GlufsTer2
NM_130836.3:c.1103dup	NP_570849.2:p.Ser369GlufsTer2
NM_015560.3:c.992dup	NP_056375.2:p.Ser332GlufsTer2
NM_130833.3:c.995dup	NP_570846.1:p.Ser333GlufsTer2
NM_130835.3:c.1049dup	NP_570848.1:p.Ser351GlufsTer2
NM_130837.3:c.1157dup MANE Select	NP_570850.2:p.Ser387GlufsTer2