Canonical Allele Identifier: CA548821845

Gene: OPA1

Linked Data

• dbSNP Id: rs1385533828
• gnomAD v2: 3-193360544-T-C
• gnomAD v4: 3-193642755-T-C
• MyVariant Identifiers: chr3:g.193360544T>C (hg19) ; chr3:g.193642755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642755T>C , CM000665.2:g.193642755T>C	GRCh38
NC_000003.11:g.193360544T>C , CM000665.1:g.193360544T>C	GRCh37
NC_000003.10:g.194843238T>C	NCBI36
NG_011605.1:g.54612T>C , LRG_337:g.54612T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1150-10T>C MANE Select	ENSP00000355324.2:n.1150-10T>C
ENST00000361828.7:c.985-10T>C	ENSP00000354429.3:n.985-10T>C
ENST00000361908.8:c.1096-10T>C	ENSP00000354681.3:n.1096-10T>C
ENST00000392436.7:c.985-10T>C	ENSP00000376231.3:n.985-10T>C
ENST00000392437.6:c.1039-10T>C	ENSP00000376232.2:n.1039-10T>C
ENST00000642289.1:c.1080-618T>C
ENST00000642445.1:c.985-10T>C	ENSP00000495535.1:n.985-10T>C
ENST00000642593.1:c.985-10T>C	ENSP00000494273.1:n.985-10T>C
ENST00000643329.1:c.667-10T>C	ENSP00000493673.1:n.667-10T>C
ENST00000643737.1:c.*1066-10T>C	ENSP00000494210.1:n.*1066-10T>C
ENST00000644595.1:c.985-10T>C	ENSP00000494121.1:n.985-10T>C
ENST00000644629.1:c.645-10T>C
ENST00000644841.1:c.613-10T>C	ENSP00000493988.1:n.613-10T>C
ENST00000644959.1:c.954-10T>C
ENST00000645553.1:c.1000-10T>C	ENSP00000494725.1:n.1000-10T>C
ENST00000646085.1:c.*463-10T>C	ENSP00000494509.1:n.*463-10T>C
ENST00000646277.1:c.1150-10T>C	ENSP00000495289.1:n.1150-10T>C
ENST00000646544.1:c.48-10T>C
ENST00000646699.1:c.1080-618T>C
ENST00000646793.1:c.877-10T>C	ENSP00000494512.1:n.877-10T>C
ENST00000361150.6:c.988-10T>C	ENSP00000354781.2:n.988-10T>C
ENST00000361510.6:c.1150-10T>C	ENSP00000355324.2:n.1150-10T>C
ENST00000361715.6:c.1042-10T>C	ENSP00000355311.2:n.1042-10T>C
ENST00000361828.6:c.1039-10T>C	ENSP00000354429.2:n.1039-10T>C
ENST00000361908.7:c.1096-10T>C	ENSP00000354681.3:n.1096-10T>C
ENST00000392438.7:c.985-10T>C	ENSP00000376233.3:n.985-10T>C
ENST00000475899.1:n.181-10T>C
ENST00000497189.5:n.471-10T>C
NM_015560.2:c.985-10T>C , LRG_337t1:c.985-10T>C	NP_056375.2:n.985-10T>C
NM_130831.2:c.877-10T>C	NP_570844.1:n.877-10T>C
NM_130832.2:c.931-10T>C	NP_570845.1:n.931-10T>C
NM_130833.2:c.988-10T>C	NP_570846.1:n.988-10T>C
NM_130834.2:c.1039-10T>C	NP_570847.2:n.1039-10T>C
NM_130835.2:c.1042-10T>C	NP_570848.1:n.1042-10T>C
NM_130836.2:c.1096-10T>C	NP_570849.2:n.1096-10T>C
NM_130837.2:c.1150-10T>C , LRG_337t2:c.1150-10T>C	NP_570850.2:n.1150-10T>C
XM_011512863.1:c.1150-10T>C	XP_011511165.1:n.1150-10T>C
XM_011512864.1:c.1096-10T>C	XP_011511166.1:n.1096-10T>C
XM_011512865.1:c.1039-10T>C	XP_011511167.1:n.1039-10T>C
XM_011512866.1:c.988-10T>C	XP_011511168.1:n.988-10T>C
XM_011512867.1:c.985-10T>C	XP_011511169.1:n.985-10T>C
XM_011512868.1:c.877-10T>C	XP_011511170.1:n.877-10T>C
XM_011512869.1:c.1150-10T>C	XP_011511171.1:n.1150-10T>C
NM_001354663.1:c.616-10T>C	NP_001341592.1:n.616-10T>C
NM_001354664.1:c.613-10T>C	NP_001341593.1:n.613-10T>C
XR_001740158.2:n.1379-10T>C
XR_001740159.2:n.1214-10T>C
NM_001354663.2:c.616-10T>C	NP_001341592.1:n.616-10T>C
NM_001354664.2:c.613-10T>C	NP_001341593.1:n.613-10T>C
NM_130831.3:c.877-10T>C	NP_570844.1:n.877-10T>C
NM_130832.3:c.931-10T>C	NP_570845.1:n.931-10T>C
NM_130834.3:c.1039-10T>C	NP_570847.2:n.1039-10T>C
NM_130836.3:c.1096-10T>C	NP_570849.2:n.1096-10T>C
NM_015560.3:c.985-10T>C	NP_056375.2:n.985-10T>C
NM_130833.3:c.988-10T>C	NP_570846.1:n.988-10T>C
NM_130835.3:c.1042-10T>C	NP_570848.1:n.1042-10T>C
NM_130837.3:c.1150-10T>C MANE Select	NP_570850.2:n.1150-10T>C