Canonical Allele Identifier: CA1430243662

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642823T= , CM000665.2:g.193642823T=	GRCh38
NC_000003.11:g.193360612T= , CM000665.1:g.193360612T=	GRCh37
NC_000003.10:g.194843306T=	NCBI36
NG_011605.1:g.54680T= , LRG_337:g.54680T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1208T= MANE Select	ENSP00000355324.2:p.Phe403=
ENST00000361828.7:c.1043T=	ENSP00000354429.3:p.Phe348=
ENST00000361908.8:c.1154T=	ENSP00000354681.3:p.Phe385=
ENST00000392436.7:c.1043T=	ENSP00000376231.3:p.Phe348=
ENST00000392437.6:c.1097T=	ENSP00000376232.2:p.Phe366=
ENST00000642289.1:c.1080-550T=
ENST00000642445.1:c.1043T=	ENSP00000495535.1:p.Phe348=
ENST00000642593.1:c.1043T=	ENSP00000494273.1:p.Phe348=
ENST00000643329.1:c.725T=	ENSP00000493673.1:p.Phe242=
ENST00000643737.1:c.*1124T=	ENSP00000494210.1:n.*1124T=
ENST00000644595.1:c.1043T=	ENSP00000494121.1:p.Phe348=
ENST00000644629.1:c.703T=
ENST00000644841.1:c.671T=	ENSP00000493988.1:p.Phe224=
ENST00000644959.1:c.1012T=
ENST00000645553.1:c.1058T=	ENSP00000494725.1:p.Phe353=
ENST00000646085.1:c.*521T=	ENSP00000494509.1:n.*521T=
ENST00000646277.1:c.1208T=	ENSP00000495289.1:p.Phe403=
ENST00000646544.1:c.106T=
ENST00000646699.1:c.1080-550T=
ENST00000646793.1:c.935T=	ENSP00000494512.1:p.Phe312=
ENST00000361150.6:c.1046T=	ENSP00000354781.2:p.Phe349=
ENST00000361510.6:c.1208T=	ENSP00000355324.2:p.Phe403=
ENST00000361715.6:c.1100T=	ENSP00000355311.2:p.Phe367=
ENST00000361828.6:c.1097T=	ENSP00000354429.2:p.Phe366=
ENST00000361908.7:c.1154T=	ENSP00000354681.3:p.Phe385=
ENST00000392438.7:c.1043T=	ENSP00000376233.3:p.Phe348=
ENST00000475899.1:n.239T=
ENST00000497189.5:n.529T=
NM_015560.2:c.1043T= , LRG_337t1:c.1043T=	NP_056375.2:p.Phe348=
NM_130831.2:c.935T=	NP_570844.1:p.Phe312=
NM_130832.2:c.989T=	NP_570845.1:p.Phe330=
NM_130833.2:c.1046T=	NP_570846.1:p.Phe349=
NM_130834.2:c.1097T=	NP_570847.2:p.Phe366=
NM_130835.2:c.1100T=	NP_570848.1:p.Phe367=
NM_130836.2:c.1154T=	NP_570849.2:p.Phe385=
NM_130837.2:c.1208T= , LRG_337t2:c.1208T=	NP_570850.2:p.Phe403=
XM_011512863.1:c.1208T=	XP_011511165.1:p.Phe403=
XM_011512864.1:c.1154T=	XP_011511166.1:p.Phe385=
XM_011512865.1:c.1097T=	XP_011511167.1:p.Phe366=
XM_011512866.1:c.1046T=	XP_011511168.1:p.Phe349=
XM_011512867.1:c.1043T=	XP_011511169.1:p.Phe348=
XM_011512868.1:c.935T=	XP_011511170.1:p.Phe312=
XM_011512869.1:c.1208T=	XP_011511171.1:p.Phe403=
NM_001354663.1:c.674T=	NP_001341592.1:p.Phe225=
NM_001354664.1:c.671T=	NP_001341593.1:p.Phe224=
XR_001740158.2:n.1437T=
XR_001740159.2:n.1272T=
NM_001354663.2:c.674T=	NP_001341592.1:p.Phe225=
NM_001354664.2:c.671T=	NP_001341593.1:p.Phe224=
NM_130831.3:c.935T=	NP_570844.1:p.Phe312=
NM_130832.3:c.989T=	NP_570845.1:p.Phe330=
NM_130834.3:c.1097T=	NP_570847.2:p.Phe366=
NM_130836.3:c.1154T=	NP_570849.2:p.Phe385=
NM_015560.3:c.1043T=	NP_056375.2:p.Phe348=
NM_130833.3:c.1046T=	NP_570846.1:p.Phe349=
NM_130835.3:c.1100T=	NP_570848.1:p.Phe367=
NM_130837.3:c.1208T= MANE Select	NP_570850.2:p.Phe403=