Canonical Allele Identifier: CA2573136859

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1447795
• ClinVar RCV Id: RCV001996924
• dbSNP Id: rs2109070551

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647167del , CM000665.2:g.193647167del	GRCh38
NC_000003.11:g.193364956del , CM000665.1:g.193364956del	GRCh37
NC_000003.10:g.194847650del	NCBI36
NG_011605.1:g.59024del , LRG_337:g.59024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1857del MANE Select	ENSP00000355324.2:p.Asp620IlefsTer?
ENST00000361828.7:c.1692del	ENSP00000354429.3:p.Asp565IlefsTer?
ENST00000361908.8:c.1803del	ENSP00000354681.3:p.Asp602IlefsTer?
ENST00000392436.7:c.1692del	ENSP00000376231.3:p.Asp565IlefsTer?
ENST00000392437.6:c.1746del	ENSP00000376232.2:p.Asp583IlefsTer?
ENST00000642289.1:c.1631del
ENST00000642445.1:c.1692del	ENSP00000495535.1:p.Asp565IlefsTer?
ENST00000642593.1:c.1692del	ENSP00000494273.1:p.Asp565IlefsTer?
ENST00000643329.1:c.1374del	ENSP00000493673.1:p.Asp459IlefsTer?
ENST00000643737.1:c.*1773del	ENSP00000494210.1:n.*1773del
ENST00000644595.1:c.1692del	ENSP00000494121.1:p.Asp565IlefsTer?
ENST00000644629.1:c.1279del
ENST00000644841.1:c.*176del	ENSP00000493988.1:n.*176del
ENST00000644959.1:c.1661del
ENST00000645553.1:c.1707del	ENSP00000494725.1:p.Asp570IlefsTer?
ENST00000646085.1:c.*1170del	ENSP00000494509.1:n.*1170del
ENST00000646277.1:c.*293del	ENSP00000495289.1:n.*293del
ENST00000646544.1:c.680del
ENST00000646699.1:c.1631del
ENST00000646793.1:c.1584del	ENSP00000494512.1:p.Asp529IlefsTer?
ENST00000361150.6:c.1695del	ENSP00000354781.2:p.Asp566IlefsTer?
ENST00000361510.6:c.1857del	ENSP00000355324.2:p.Asp620IlefsTer?
ENST00000361715.6:c.1749del	ENSP00000355311.2:p.Asp584IlefsTer?
ENST00000361828.6:c.1746del	ENSP00000354429.2:p.Asp583IlefsTer?
ENST00000361908.7:c.1803del	ENSP00000354681.3:p.Asp602IlefsTer?
ENST00000392438.7:c.1692del	ENSP00000376233.3:p.Asp565IlefsTer?
ENST00000483516.1:n.190del
NM_015560.2:c.1692del , LRG_337t1:c.1692del	NP_056375.2:p.Asp565IlefsTer?
NM_130831.2:c.1584del	NP_570844.1:p.Asp529IlefsTer?
NM_130832.2:c.1638del	NP_570845.1:p.Asp547IlefsTer?
NM_130833.2:c.1695del	NP_570846.1:p.Asp566IlefsTer?
NM_130834.2:c.1746del	NP_570847.2:p.Asp583IlefsTer?
NM_130835.2:c.1749del	NP_570848.1:p.Asp584IlefsTer?
NM_130836.2:c.1803del	NP_570849.2:p.Asp602IlefsTer?
NM_130837.2:c.1857del , LRG_337t2:c.1857del	NP_570850.2:p.Asp620IlefsTer?
XM_011512863.1:c.1857del	XP_011511165.1:p.Asp620IlefsTer?
XM_011512864.1:c.1803del	XP_011511166.1:p.Asp602IlefsTer?
XM_011512865.1:c.1746del	XP_011511167.1:p.Asp583IlefsTer?
XM_011512866.1:c.1695del	XP_011511168.1:p.Asp566IlefsTer?
XM_011512867.1:c.1692del	XP_011511169.1:p.Asp565IlefsTer?
XM_011512868.1:c.1584del	XP_011511170.1:p.Asp529IlefsTer?
XM_011512869.1:c.1857del	XP_011511171.1:p.Asp620IlefsTer?
NM_001354663.1:c.1323del	NP_001341592.1:p.Asp442IlefsTer?
NM_001354664.1:c.1320del	NP_001341593.1:p.Asp441IlefsTer?
XR_001740158.2:n.2086del
XR_001740159.2:n.1921del
NM_001354663.2:c.1323del	NP_001341592.1:p.Asp442IlefsTer?
NM_001354664.2:c.1320del	NP_001341593.1:p.Asp441IlefsTer?
NM_130831.3:c.1584del	NP_570844.1:p.Asp529IlefsTer?
NM_130832.3:c.1638del	NP_570845.1:p.Asp547IlefsTer?
NM_130834.3:c.1746del	NP_570847.2:p.Asp583IlefsTer?
NM_130836.3:c.1803del	NP_570849.2:p.Asp602IlefsTer?
NM_015560.3:c.1692del	NP_056375.2:p.Asp565IlefsTer?
NM_130833.3:c.1695del	NP_570846.1:p.Asp566IlefsTer?
NM_130835.3:c.1749del	NP_570848.1:p.Asp584IlefsTer?
NM_130837.3:c.1857del MANE Select	NP_570850.2:p.Asp620IlefsTer?