Canonical Allele Identifier: CA355787292

Gene: OPA1

Linked Data

• ClinVar Variation Id: 444623
• ClinVar RCV Id: RCV000513373
• dbSNP Id: rs1319065221
• MyVariant Identifiers: chr3:g.193353228G>T (hg19) ; chr3:g.193635439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193635439G>T , CM000665.2:g.193635439G>T	GRCh38
NC_000003.11:g.193353228G>T , CM000665.1:g.193353228G>T	GRCh37
NC_000003.10:g.194835922G>T	NCBI36
NG_011605.1:g.47296G>T , LRG_337:g.47296G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.865G>T MANE Select	ENSP00000355324.2:p.Glu289Ter
ENST00000361828.7:c.700G>T	ENSP00000354429.3:p.Glu234Ter
ENST00000361908.8:c.811G>T	ENSP00000354681.3:p.Glu271Ter
ENST00000392436.7:c.700G>T	ENSP00000376231.3:p.Glu234Ter
ENST00000392437.6:c.754G>T	ENSP00000376232.2:p.Glu252Ter
ENST00000434811.2:c.651G>T
ENST00000642289.1:c.795G>T
ENST00000642445.1:c.700G>T	ENSP00000495535.1:p.Glu234Ter
ENST00000642593.1:c.700G>T	ENSP00000494273.1:p.Glu234Ter
ENST00000643329.1:c.382G>T	ENSP00000493673.1:p.Glu128Ter
ENST00000643737.1:c.*781G>T	ENSP00000494210.1:n.*781G>T
ENST00000644595.1:c.700G>T	ENSP00000494121.1:p.Glu234Ter
ENST00000644629.1:c.360G>T
ENST00000644841.1:c.328G>T	ENSP00000493988.1:p.Glu110Ter
ENST00000644959.1:c.669G>T
ENST00000645553.1:c.715G>T	ENSP00000494725.1:p.Glu239Ter
ENST00000646085.1:c.*178G>T	ENSP00000494509.1:n.*178G>T
ENST00000646277.1:c.865G>T	ENSP00000495289.1:p.Glu289Ter
ENST00000646699.1:c.795G>T
ENST00000646793.1:c.592G>T	ENSP00000494512.1:p.Glu198Ter
ENST00000361150.6:c.703G>T	ENSP00000354781.2:p.Glu235Ter
ENST00000361510.6:c.865G>T	ENSP00000355324.2:p.Glu289Ter
ENST00000361715.6:c.757G>T	ENSP00000355311.2:p.Glu253Ter
ENST00000361828.6:c.754G>T	ENSP00000354429.2:p.Glu252Ter
ENST00000361908.7:c.811G>T	ENSP00000354681.3:p.Glu271Ter
ENST00000392438.7:c.700G>T	ENSP00000376233.3:p.Glu234Ter
ENST00000434811.1:c.453G>T
ENST00000495476.1:n.221G>T
ENST00000497189.5:n.186G>T
NM_015560.2:c.700G>T , LRG_337t1:c.700G>T	NP_056375.2:p.Glu234Ter
NM_130831.2:c.592G>T	NP_570844.1:p.Glu198Ter
NM_130832.2:c.646G>T	NP_570845.1:p.Glu216Ter
NM_130833.2:c.703G>T	NP_570846.1:p.Glu235Ter
NM_130834.2:c.754G>T	NP_570847.2:p.Glu252Ter
NM_130835.2:c.757G>T	NP_570848.1:p.Glu253Ter
NM_130836.2:c.811G>T	NP_570849.2:p.Glu271Ter
NM_130837.2:c.865G>T , LRG_337t2:c.865G>T	NP_570850.2:p.Glu289Ter
XM_011512863.1:c.865G>T	XP_011511165.1:p.Glu289Ter
XM_011512864.1:c.811G>T	XP_011511166.1:p.Glu271Ter
XM_011512865.1:c.754G>T	XP_011511167.1:p.Glu252Ter
XM_011512866.1:c.703G>T	XP_011511168.1:p.Glu235Ter
XM_011512867.1:c.700G>T	XP_011511169.1:p.Glu234Ter
XM_011512868.1:c.592G>T	XP_011511170.1:p.Glu198Ter
XM_011512869.1:c.865G>T	XP_011511171.1:p.Glu289Ter
NM_001354663.1:c.331G>T	NP_001341592.1:p.Glu111Ter
NM_001354664.1:c.328G>T	NP_001341593.1:p.Glu110Ter
XR_001740158.2:n.1094G>T
XR_001740159.2:n.929G>T
NM_001354663.2:c.331G>T	NP_001341592.1:p.Glu111Ter
NM_001354664.2:c.328G>T	NP_001341593.1:p.Glu110Ter
NM_130831.3:c.592G>T	NP_570844.1:p.Glu198Ter
NM_130832.3:c.646G>T	NP_570845.1:p.Glu216Ter
NM_130834.3:c.754G>T	NP_570847.2:p.Glu252Ter
NM_130836.3:c.811G>T	NP_570849.2:p.Glu271Ter
NM_015560.3:c.700G>T	NP_056375.2:p.Glu234Ter
NM_130833.3:c.703G>T	NP_570846.1:p.Glu235Ter
NM_130835.3:c.757G>T	NP_570848.1:p.Glu253Ter
NM_130837.3:c.865G>T MANE Select	NP_570850.2:p.Glu289Ter