Canonical Allele Identifier: CA2573136895

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1367893
• ClinVar RCV Id: RCV001947535
• dbSNP Id: rs2109277786

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667237del , CM000665.2:g.193667237del	GRCh38
NC_000003.11:g.193385026del , CM000665.1:g.193385026del	GRCh37
NC_000003.10:g.194867720del	NCBI36
NG_011605.1:g.79094del , LRG_337:g.79094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2940del MANE Select	ENSP00000355324.2:p.Lys981AsnfsTer?
ENST00000361828.7:c.2775del	ENSP00000354429.3:p.Lys926AsnfsTer?
ENST00000361908.8:c.2886del	ENSP00000354681.3:p.Lys963AsnfsTer?
ENST00000392436.7:c.2775del	ENSP00000376231.3:p.Lys926AsnfsTer?
ENST00000392437.6:c.2829del	ENSP00000376232.2:p.Lys944AsnfsTer?
ENST00000642289.1:c.2714del
ENST00000642445.1:c.2775del	ENSP00000495535.1:p.Lys926AsnfsTer?
ENST00000642593.1:c.*1000del	ENSP00000494273.1:n.*1000del
ENST00000643329.1:c.2457del	ENSP00000493673.1:p.Lys820AsnfsTer?
ENST00000643737.1:c.*2856del	ENSP00000494210.1:n.*2856del
ENST00000644595.1:c.2775del	ENSP00000494121.1:p.Lys926AsnfsTer16
ENST00000644629.1:c.2362del
ENST00000644841.1:c.*1259del	ENSP00000493988.1:n.*1259del
ENST00000644959.1:c.2769del
ENST00000645553.1:c.2790del	ENSP00000494725.1:p.Lys931AsnfsTer?
ENST00000646085.1:c.*2253del	ENSP00000494509.1:n.*2253del
ENST00000646277.1:c.*1376del	ENSP00000495289.1:n.*1376del
ENST00000646544.1:c.1763del
ENST00000646699.1:c.2714del
ENST00000646793.1:c.2667del	ENSP00000494512.1:p.Lys890AsnfsTer?
ENST00000361150.6:c.2778del	ENSP00000354781.2:p.Lys927AsnfsTer?
ENST00000361510.6:c.2940del	ENSP00000355324.2:p.Lys981AsnfsTer?
ENST00000361715.6:c.2832del	ENSP00000355311.2:p.Lys945AsnfsTer?
ENST00000361828.6:c.2829del	ENSP00000354429.2:p.Lys944AsnfsTer?
ENST00000361908.7:c.2886del	ENSP00000354681.3:p.Lys963AsnfsTer?
ENST00000392438.7:c.2775del	ENSP00000376233.3:p.Lys926AsnfsTer?
ENST00000429164.1:c.62del
ENST00000445863.1:c.351del	ENSP00000398358.1:p.Lys118AsnfsTer22
NM_015560.2:c.2775del , LRG_337t1:c.2775del	NP_056375.2:p.Lys926AsnfsTer?
NM_130831.2:c.2667del	NP_570844.1:p.Lys890AsnfsTer?
NM_130832.2:c.2721del	NP_570845.1:p.Lys908AsnfsTer?
NM_130833.2:c.2778del	NP_570846.1:p.Lys927AsnfsTer?
NM_130834.2:c.2829del	NP_570847.2:p.Lys944AsnfsTer?
NM_130835.2:c.2832del	NP_570848.1:p.Lys945AsnfsTer?
NM_130836.2:c.2886del	NP_570849.2:p.Lys963AsnfsTer?
NM_130837.2:c.2940del , LRG_337t2:c.2940del	NP_570850.2:p.Lys981AsnfsTer?
XM_011512863.1:c.2940del	XP_011511165.1:p.Lys981AsnfsTer15
XM_011512864.1:c.2886del	XP_011511166.1:p.Lys963AsnfsTer15
XM_011512865.1:c.2829del	XP_011511167.1:p.Lys944AsnfsTer15
XM_011512866.1:c.2778del	XP_011511168.1:p.Lys927AsnfsTer15
XM_011512867.1:c.2775del	XP_011511169.1:p.Lys926AsnfsTer15
XM_011512868.1:c.2667del	XP_011511170.1:p.Lys890AsnfsTer15
XR_924835.1:n.582+1684del
NM_001354663.1:c.2406del	NP_001341592.1:p.Lys803AsnfsTer?
NM_001354664.1:c.2403del	NP_001341593.1:p.Lys802AsnfsTer?
XR_001740158.2:n.3194del
XR_001740159.2:n.3029del
XR_001741072.1:n.600+1684del
XR_001741074.1:n.475+3572del
XR_924835.2:n.600+1684del
NM_001354663.2:c.2406del	NP_001341592.1:p.Lys803AsnfsTer?
NM_001354664.2:c.2403del	NP_001341593.1:p.Lys802AsnfsTer?
NM_130831.3:c.2667del	NP_570844.1:p.Lys890AsnfsTer?
NM_130832.3:c.2721del	NP_570845.1:p.Lys908AsnfsTer?
NM_130834.3:c.2829del	NP_570847.2:p.Lys944AsnfsTer?
NM_130836.3:c.2886del	NP_570849.2:p.Lys963AsnfsTer?
NM_015560.3:c.2775del	NP_056375.2:p.Lys926AsnfsTer?
NM_130833.3:c.2778del	NP_570846.1:p.Lys927AsnfsTer?
NM_130835.3:c.2832del	NP_570848.1:p.Lys945AsnfsTer?
NM_130837.3:c.2940del MANE Select	NP_570850.2:p.Lys981AsnfsTer?