Canonical Allele Identifier: CA355788475

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355834A>T (hg19) ; chr3:g.193638045A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638045A>T , CM000665.2:g.193638045A>T	GRCh38
NC_000003.11:g.193355834A>T , CM000665.1:g.193355834A>T	GRCh37
NC_000003.10:g.194838528A>T	NCBI36
NG_011605.1:g.49902A>T , LRG_337:g.49902A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1129A>T MANE Select	ENSP00000355324.2:p.Met377Leu
ENST00000361828.7:c.964A>T	ENSP00000354429.3:p.Met322Leu
ENST00000361908.8:c.1075A>T	ENSP00000354681.3:p.Met359Leu
ENST00000392436.7:c.964A>T	ENSP00000376231.3:p.Met322Leu
ENST00000392437.6:c.1018A>T	ENSP00000376232.2:p.Met340Leu
ENST00000642289.1:c.1059A>T
ENST00000642445.1:c.964A>T	ENSP00000495535.1:p.Met322Leu
ENST00000642593.1:c.964A>T	ENSP00000494273.1:p.Met322Leu
ENST00000643329.1:c.646A>T	ENSP00000493673.1:p.Met216Leu
ENST00000643737.1:c.*1045A>T	ENSP00000494210.1:n.*1045A>T
ENST00000644595.1:c.964A>T	ENSP00000494121.1:p.Met322Leu
ENST00000644629.1:c.624A>T
ENST00000644841.1:c.592A>T	ENSP00000493988.1:p.Met198Leu
ENST00000644959.1:c.933A>T
ENST00000645553.1:c.979A>T	ENSP00000494725.1:p.Met327Leu
ENST00000646085.1:c.*442A>T	ENSP00000494509.1:n.*442A>T
ENST00000646277.1:c.1129A>T	ENSP00000495289.1:p.Met377Leu
ENST00000646544.1:c.27A>T
ENST00000646699.1:c.1059A>T
ENST00000646793.1:c.856A>T	ENSP00000494512.1:p.Met286Leu
ENST00000361150.6:c.967A>T	ENSP00000354781.2:p.Met323Leu
ENST00000361510.6:c.1129A>T	ENSP00000355324.2:p.Met377Leu
ENST00000361715.6:c.1021A>T	ENSP00000355311.2:p.Met341Leu
ENST00000361828.6:c.1018A>T	ENSP00000354429.2:p.Met340Leu
ENST00000361908.7:c.1075A>T	ENSP00000354681.3:p.Met359Leu
ENST00000392438.7:c.964A>T	ENSP00000376233.3:p.Met322Leu
ENST00000475899.1:n.160A>T
ENST00000495476.1:n.485A>T
ENST00000497189.5:n.450A>T
NM_015560.2:c.964A>T , LRG_337t1:c.964A>T	NP_056375.2:p.Met322Leu
NM_130831.2:c.856A>T	NP_570844.1:p.Met286Leu
NM_130832.2:c.910A>T	NP_570845.1:p.Met304Leu
NM_130833.2:c.967A>T	NP_570846.1:p.Met323Leu
NM_130834.2:c.1018A>T	NP_570847.2:p.Met340Leu
NM_130835.2:c.1021A>T	NP_570848.1:p.Met341Leu
NM_130836.2:c.1075A>T	NP_570849.2:p.Met359Leu
NM_130837.2:c.1129A>T , LRG_337t2:c.1129A>T	NP_570850.2:p.Met377Leu
XM_011512863.1:c.1129A>T	XP_011511165.1:p.Met377Leu
XM_011512864.1:c.1075A>T	XP_011511166.1:p.Met359Leu
XM_011512865.1:c.1018A>T	XP_011511167.1:p.Met340Leu
XM_011512866.1:c.967A>T	XP_011511168.1:p.Met323Leu
XM_011512867.1:c.964A>T	XP_011511169.1:p.Met322Leu
XM_011512868.1:c.856A>T	XP_011511170.1:p.Met286Leu
XM_011512869.1:c.1129A>T	XP_011511171.1:p.Met377Leu
NM_001354663.1:c.595A>T	NP_001341592.1:p.Met199Leu
NM_001354664.1:c.592A>T	NP_001341593.1:p.Met198Leu
XR_001740158.2:n.1358A>T
XR_001740159.2:n.1193A>T
NM_001354663.2:c.595A>T	NP_001341592.1:p.Met199Leu
NM_001354664.2:c.592A>T	NP_001341593.1:p.Met198Leu
NM_130831.3:c.856A>T	NP_570844.1:p.Met286Leu
NM_130832.3:c.910A>T	NP_570845.1:p.Met304Leu
NM_130834.3:c.1018A>T	NP_570847.2:p.Met340Leu
NM_130836.3:c.1075A>T	NP_570849.2:p.Met359Leu
NM_015560.3:c.964A>T	NP_056375.2:p.Met322Leu
NM_130833.3:c.967A>T	NP_570846.1:p.Met323Leu
NM_130835.3:c.1021A>T	NP_570848.1:p.Met341Leu
NM_130837.3:c.1129A>T MANE Select	NP_570850.2:p.Met377Leu