Canonical Allele Identifier: CA437434477

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1615386
• ClinVar RCV Id: RCV002081433
• dbSNP Id: rs1196575724
• gnomAD v2: 3-193355815-A-G
• gnomAD v4: 3-193638026-A-G
• MyVariant Identifiers: chr3:g.193355815A>G (hg19) ; chr3:g.193638026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638026A>G , CM000665.2:g.193638026A>G	GRCh38
NC_000003.11:g.193355815A>G , CM000665.1:g.193355815A>G	GRCh37
NC_000003.10:g.194838509A>G	NCBI36
NG_011605.1:g.49883A>G , LRG_337:g.49883A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1110A>G MANE Select	ENSP00000355324.2:p.Pro370=
ENST00000361828.7:c.945A>G	ENSP00000354429.3:p.Pro315=
ENST00000361908.8:c.1056A>G	ENSP00000354681.3:p.Pro352=
ENST00000392436.7:c.945A>G	ENSP00000376231.3:p.Pro315=
ENST00000392437.6:c.999A>G	ENSP00000376232.2:p.Pro333=
ENST00000642289.1:c.1040A>G
ENST00000642445.1:c.945A>G	ENSP00000495535.1:p.Pro315=
ENST00000642593.1:c.945A>G	ENSP00000494273.1:p.Pro315=
ENST00000643329.1:c.627A>G	ENSP00000493673.1:p.Pro209=
ENST00000643737.1:c.*1026A>G	ENSP00000494210.1:n.*1026A>G
ENST00000644595.1:c.945A>G	ENSP00000494121.1:p.Pro315=
ENST00000644629.1:c.605A>G
ENST00000644841.1:c.573A>G	ENSP00000493988.1:p.Pro191=
ENST00000644959.1:c.914A>G
ENST00000645553.1:c.960A>G	ENSP00000494725.1:p.Pro320=
ENST00000646085.1:c.*423A>G	ENSP00000494509.1:n.*423A>G
ENST00000646277.1:c.1110A>G	ENSP00000495289.1:p.Pro370=
ENST00000646544.1:c.8A>G
ENST00000646699.1:c.1040A>G
ENST00000646793.1:c.837A>G	ENSP00000494512.1:p.Pro279=
ENST00000361150.6:c.948A>G	ENSP00000354781.2:p.Pro316=
ENST00000361510.6:c.1110A>G	ENSP00000355324.2:p.Pro370=
ENST00000361715.6:c.1002A>G	ENSP00000355311.2:p.Pro334=
ENST00000361828.6:c.999A>G	ENSP00000354429.2:p.Pro333=
ENST00000361908.7:c.1056A>G	ENSP00000354681.3:p.Pro352=
ENST00000392438.7:c.945A>G	ENSP00000376233.3:p.Pro315=
ENST00000475899.1:n.141A>G
ENST00000495476.1:n.466A>G
ENST00000497189.5:n.431A>G
NM_015560.2:c.945A>G , LRG_337t1:c.945A>G	NP_056375.2:p.Pro315=
NM_130831.2:c.837A>G	NP_570844.1:p.Pro279=
NM_130832.2:c.891A>G	NP_570845.1:p.Pro297=
NM_130833.2:c.948A>G	NP_570846.1:p.Pro316=
NM_130834.2:c.999A>G	NP_570847.2:p.Pro333=
NM_130835.2:c.1002A>G	NP_570848.1:p.Pro334=
NM_130836.2:c.1056A>G	NP_570849.2:p.Pro352=
NM_130837.2:c.1110A>G , LRG_337t2:c.1110A>G	NP_570850.2:p.Pro370=
XM_011512863.1:c.1110A>G	XP_011511165.1:p.Pro370=
XM_011512864.1:c.1056A>G	XP_011511166.1:p.Pro352=
XM_011512865.1:c.999A>G	XP_011511167.1:p.Pro333=
XM_011512866.1:c.948A>G	XP_011511168.1:p.Pro316=
XM_011512867.1:c.945A>G	XP_011511169.1:p.Pro315=
XM_011512868.1:c.837A>G	XP_011511170.1:p.Pro279=
XM_011512869.1:c.1110A>G	XP_011511171.1:p.Pro370=
NM_001354663.1:c.576A>G	NP_001341592.1:p.Pro192=
NM_001354664.1:c.573A>G	NP_001341593.1:p.Pro191=
XR_001740158.2:n.1339A>G
XR_001740159.2:n.1174A>G
NM_001354663.2:c.576A>G	NP_001341592.1:p.Pro192=
NM_001354664.2:c.573A>G	NP_001341593.1:p.Pro191=
NM_130831.3:c.837A>G	NP_570844.1:p.Pro279=
NM_130832.3:c.891A>G	NP_570845.1:p.Pro297=
NM_130834.3:c.999A>G	NP_570847.2:p.Pro333=
NM_130836.3:c.1056A>G	NP_570849.2:p.Pro352=
NM_015560.3:c.945A>G	NP_056375.2:p.Pro315=
NM_130833.3:c.948A>G	NP_570846.1:p.Pro316=
NM_130835.3:c.1002A>G	NP_570848.1:p.Pro334=
NM_130837.3:c.1110A>G MANE Select	NP_570850.2:p.Pro370=