Canonical Allele Identifier: CA355788320

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355781T>A (hg19) ; chr3:g.193637992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637992T>A , CM000665.2:g.193637992T>A	GRCh38
NC_000003.11:g.193355781T>A , CM000665.1:g.193355781T>A	GRCh37
NC_000003.10:g.194838475T>A	NCBI36
NG_011605.1:g.49849T>A , LRG_337:g.49849T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1076T>A MANE Select	ENSP00000355324.2:p.Val359Glu
ENST00000361828.7:c.911T>A	ENSP00000354429.3:p.Val304Glu
ENST00000361908.8:c.1022T>A	ENSP00000354681.3:p.Val341Glu
ENST00000392436.7:c.911T>A	ENSP00000376231.3:p.Val304Glu
ENST00000392437.6:c.965T>A	ENSP00000376232.2:p.Val322Glu
ENST00000642289.1:c.1006T>A
ENST00000642445.1:c.911T>A	ENSP00000495535.1:p.Val304Glu
ENST00000642593.1:c.911T>A	ENSP00000494273.1:p.Val304Glu
ENST00000643329.1:c.593T>A	ENSP00000493673.1:p.Val198Glu
ENST00000643737.1:c.*992T>A	ENSP00000494210.1:n.*992T>A
ENST00000644595.1:c.911T>A	ENSP00000494121.1:p.Val304Glu
ENST00000644629.1:c.571T>A
ENST00000644841.1:c.539T>A	ENSP00000493988.1:p.Val180Glu
ENST00000644959.1:c.880T>A
ENST00000645553.1:c.926T>A	ENSP00000494725.1:p.Val309Glu
ENST00000646085.1:c.*389T>A	ENSP00000494509.1:n.*389T>A
ENST00000646277.1:c.1076T>A	ENSP00000495289.1:p.Val359Glu
ENST00000646699.1:c.1006T>A
ENST00000646793.1:c.803T>A	ENSP00000494512.1:p.Val268Glu
ENST00000361150.6:c.914T>A	ENSP00000354781.2:p.Val305Glu
ENST00000361510.6:c.1076T>A	ENSP00000355324.2:p.Val359Glu
ENST00000361715.6:c.968T>A	ENSP00000355311.2:p.Val323Glu
ENST00000361828.6:c.965T>A	ENSP00000354429.2:p.Val322Glu
ENST00000361908.7:c.1022T>A	ENSP00000354681.3:p.Val341Glu
ENST00000392438.7:c.911T>A	ENSP00000376233.3:p.Val304Glu
ENST00000475899.1:n.107T>A
ENST00000495476.1:n.432T>A
ENST00000497189.5:n.397T>A
NM_015560.2:c.911T>A , LRG_337t1:c.911T>A	NP_056375.2:p.Val304Glu
NM_130831.2:c.803T>A	NP_570844.1:p.Val268Glu
NM_130832.2:c.857T>A	NP_570845.1:p.Val286Glu
NM_130833.2:c.914T>A	NP_570846.1:p.Val305Glu
NM_130834.2:c.965T>A	NP_570847.2:p.Val322Glu
NM_130835.2:c.968T>A	NP_570848.1:p.Val323Glu
NM_130836.2:c.1022T>A	NP_570849.2:p.Val341Glu
NM_130837.2:c.1076T>A , LRG_337t2:c.1076T>A	NP_570850.2:p.Val359Glu
XM_011512863.1:c.1076T>A	XP_011511165.1:p.Val359Glu
XM_011512864.1:c.1022T>A	XP_011511166.1:p.Val341Glu
XM_011512865.1:c.965T>A	XP_011511167.1:p.Val322Glu
XM_011512866.1:c.914T>A	XP_011511168.1:p.Val305Glu
XM_011512867.1:c.911T>A	XP_011511169.1:p.Val304Glu
XM_011512868.1:c.803T>A	XP_011511170.1:p.Val268Glu
XM_011512869.1:c.1076T>A	XP_011511171.1:p.Val359Glu
NM_001354663.1:c.542T>A	NP_001341592.1:p.Val181Glu
NM_001354664.1:c.539T>A	NP_001341593.1:p.Val180Glu
XR_001740158.2:n.1305T>A
XR_001740159.2:n.1140T>A
NM_001354663.2:c.542T>A	NP_001341592.1:p.Val181Glu
NM_001354664.2:c.539T>A	NP_001341593.1:p.Val180Glu
NM_130831.3:c.803T>A	NP_570844.1:p.Val268Glu
NM_130832.3:c.857T>A	NP_570845.1:p.Val286Glu
NM_130834.3:c.965T>A	NP_570847.2:p.Val322Glu
NM_130836.3:c.1022T>A	NP_570849.2:p.Val341Glu
NM_015560.3:c.911T>A	NP_056375.2:p.Val304Glu
NM_130833.3:c.914T>A	NP_570846.1:p.Val305Glu
NM_130835.3:c.968T>A	NP_570848.1:p.Val323Glu
NM_130837.3:c.1076T>A MANE Select	NP_570850.2:p.Val359Glu