Canonical Allele Identifier: CA355789223

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193361192C>A (hg19) ; chr3:g.193643403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643403C>A , CM000665.2:g.193643403C>A	GRCh38
NC_000003.11:g.193361192C>A , CM000665.1:g.193361192C>A	GRCh37
NC_000003.10:g.194843886C>A	NCBI36
NG_011605.1:g.55260C>A , LRG_337:g.55260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1336C>A MANE Select	ENSP00000355324.2:p.Leu446Ile
ENST00000361828.7:c.1171C>A	ENSP00000354429.3:p.Leu391Ile
ENST00000361908.8:c.1282C>A	ENSP00000354681.3:p.Leu428Ile
ENST00000392436.7:c.1171C>A	ENSP00000376231.3:p.Leu391Ile
ENST00000392437.6:c.1225C>A	ENSP00000376232.2:p.Leu409Ile
ENST00000642289.1:c.1110C>A
ENST00000642445.1:c.1171C>A	ENSP00000495535.1:p.Leu391Ile
ENST00000642593.1:c.1171C>A	ENSP00000494273.1:p.Leu391Ile
ENST00000643329.1:c.853C>A	ENSP00000493673.1:p.Leu285Ile
ENST00000643737.1:c.*1252C>A	ENSP00000494210.1:n.*1252C>A
ENST00000644595.1:c.1171C>A	ENSP00000494121.1:p.Leu391Ile
ENST00000644629.1:c.831C>A
ENST00000644841.1:c.799C>A	ENSP00000493988.1:p.Leu267Ile
ENST00000644959.1:c.1140C>A
ENST00000645553.1:c.1186C>A	ENSP00000494725.1:p.Leu396Ile
ENST00000646085.1:c.*649C>A	ENSP00000494509.1:n.*649C>A
ENST00000646277.1:c.1336C>A	ENSP00000495289.1:p.Leu446Ile
ENST00000646544.1:c.159C>A
ENST00000646699.1:c.1110C>A
ENST00000646793.1:c.1063C>A	ENSP00000494512.1:p.Leu355Ile
ENST00000361150.6:c.1174C>A	ENSP00000354781.2:p.Leu392Ile
ENST00000361510.6:c.1336C>A	ENSP00000355324.2:p.Leu446Ile
ENST00000361715.6:c.1228C>A	ENSP00000355311.2:p.Leu410Ile
ENST00000361828.6:c.1225C>A	ENSP00000354429.2:p.Leu409Ile
ENST00000361908.7:c.1282C>A	ENSP00000354681.3:p.Leu428Ile
ENST00000392438.7:c.1171C>A	ENSP00000376233.3:p.Leu391Ile
ENST00000475899.1:n.367C>A
NM_015560.2:c.1171C>A , LRG_337t1:c.1171C>A	NP_056375.2:p.Leu391Ile
NM_130831.2:c.1063C>A	NP_570844.1:p.Leu355Ile
NM_130832.2:c.1117C>A	NP_570845.1:p.Leu373Ile
NM_130833.2:c.1174C>A	NP_570846.1:p.Leu392Ile
NM_130834.2:c.1225C>A	NP_570847.2:p.Leu409Ile
NM_130835.2:c.1228C>A	NP_570848.1:p.Leu410Ile
NM_130836.2:c.1282C>A	NP_570849.2:p.Leu428Ile
NM_130837.2:c.1336C>A , LRG_337t2:c.1336C>A	NP_570850.2:p.Leu446Ile
XM_011512863.1:c.1336C>A	XP_011511165.1:p.Leu446Ile
XM_011512864.1:c.1282C>A	XP_011511166.1:p.Leu428Ile
XM_011512865.1:c.1225C>A	XP_011511167.1:p.Leu409Ile
XM_011512866.1:c.1174C>A	XP_011511168.1:p.Leu392Ile
XM_011512867.1:c.1171C>A	XP_011511169.1:p.Leu391Ile
XM_011512868.1:c.1063C>A	XP_011511170.1:p.Leu355Ile
XM_011512869.1:c.1336C>A	XP_011511171.1:p.Leu446Ile
NM_001354663.1:c.802C>A	NP_001341592.1:p.Leu268Ile
NM_001354664.1:c.799C>A	NP_001341593.1:p.Leu267Ile
XR_001740158.2:n.1565C>A
XR_001740159.2:n.1400C>A
NM_001354663.2:c.802C>A	NP_001341592.1:p.Leu268Ile
NM_001354664.2:c.799C>A	NP_001341593.1:p.Leu267Ile
NM_130831.3:c.1063C>A	NP_570844.1:p.Leu355Ile
NM_130832.3:c.1117C>A	NP_570845.1:p.Leu373Ile
NM_130834.3:c.1225C>A	NP_570847.2:p.Leu409Ile
NM_130836.3:c.1282C>A	NP_570849.2:p.Leu428Ile
NM_015560.3:c.1171C>A	NP_056375.2:p.Leu391Ile
NM_130833.3:c.1174C>A	NP_570846.1:p.Leu392Ile
NM_130835.3:c.1228C>A	NP_570848.1:p.Leu410Ile
NM_130837.3:c.1336C>A MANE Select	NP_570850.2:p.Leu446Ile