Canonical Allele Identifier: CA437436017

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193361171T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643382T>C , CM000665.2:g.193643382T>C	GRCh38
NC_000003.11:g.193361171T>C , CM000665.1:g.193361171T>C	GRCh37
NC_000003.10:g.194843865T>C	NCBI36
NG_011605.1:g.55239T>C , LRG_337:g.55239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1315T>C MANE Select	ENSP00000355324.2:p.Leu439=
ENST00000361828.7:c.1150T>C	ENSP00000354429.3:p.Leu384=
ENST00000361908.8:c.1261T>C	ENSP00000354681.3:p.Leu421=
ENST00000392436.7:c.1150T>C	ENSP00000376231.3:p.Leu384=
ENST00000392437.6:c.1204T>C	ENSP00000376232.2:p.Leu402=
ENST00000642289.1:c.1089T>C
ENST00000642445.1:c.1150T>C	ENSP00000495535.1:p.Leu384=
ENST00000642593.1:c.1150T>C	ENSP00000494273.1:p.Leu384=
ENST00000643329.1:c.832T>C	ENSP00000493673.1:p.Leu278=
ENST00000643737.1:c.*1231T>C	ENSP00000494210.1:n.*1231T>C
ENST00000644595.1:c.1150T>C	ENSP00000494121.1:p.Leu384=
ENST00000644629.1:c.810T>C
ENST00000644841.1:c.778T>C	ENSP00000493988.1:p.Leu260=
ENST00000644959.1:c.1119T>C
ENST00000645553.1:c.1165T>C	ENSP00000494725.1:p.Leu389=
ENST00000646085.1:c.*628T>C	ENSP00000494509.1:n.*628T>C
ENST00000646277.1:c.1315T>C	ENSP00000495289.1:p.Leu439=
ENST00000646544.1:c.138T>C
ENST00000646699.1:c.1089T>C
ENST00000646793.1:c.1042T>C	ENSP00000494512.1:p.Leu348=
ENST00000361150.6:c.1153T>C	ENSP00000354781.2:p.Leu385=
ENST00000361510.6:c.1315T>C	ENSP00000355324.2:p.Leu439=
ENST00000361715.6:c.1207T>C	ENSP00000355311.2:p.Leu403=
ENST00000361828.6:c.1204T>C	ENSP00000354429.2:p.Leu402=
ENST00000361908.7:c.1261T>C	ENSP00000354681.3:p.Leu421=
ENST00000392438.7:c.1150T>C	ENSP00000376233.3:p.Leu384=
ENST00000475899.1:n.346T>C
NM_015560.2:c.1150T>C , LRG_337t1:c.1150T>C	NP_056375.2:p.Leu384=
NM_130831.2:c.1042T>C	NP_570844.1:p.Leu348=
NM_130832.2:c.1096T>C	NP_570845.1:p.Leu366=
NM_130833.2:c.1153T>C	NP_570846.1:p.Leu385=
NM_130834.2:c.1204T>C	NP_570847.2:p.Leu402=
NM_130835.2:c.1207T>C	NP_570848.1:p.Leu403=
NM_130836.2:c.1261T>C	NP_570849.2:p.Leu421=
NM_130837.2:c.1315T>C , LRG_337t2:c.1315T>C	NP_570850.2:p.Leu439=
XM_011512863.1:c.1315T>C	XP_011511165.1:p.Leu439=
XM_011512864.1:c.1261T>C	XP_011511166.1:p.Leu421=
XM_011512865.1:c.1204T>C	XP_011511167.1:p.Leu402=
XM_011512866.1:c.1153T>C	XP_011511168.1:p.Leu385=
XM_011512867.1:c.1150T>C	XP_011511169.1:p.Leu384=
XM_011512868.1:c.1042T>C	XP_011511170.1:p.Leu348=
XM_011512869.1:c.1315T>C	XP_011511171.1:p.Leu439=
NM_001354663.1:c.781T>C	NP_001341592.1:p.Leu261=
NM_001354664.1:c.778T>C	NP_001341593.1:p.Leu260=
XR_001740158.2:n.1544T>C
XR_001740159.2:n.1379T>C
NM_001354663.2:c.781T>C	NP_001341592.1:p.Leu261=
NM_001354664.2:c.778T>C	NP_001341593.1:p.Leu260=
NM_130831.3:c.1042T>C	NP_570844.1:p.Leu348=
NM_130832.3:c.1096T>C	NP_570845.1:p.Leu366=
NM_130834.3:c.1204T>C	NP_570847.2:p.Leu402=
NM_130836.3:c.1261T>C	NP_570849.2:p.Leu421=
NM_015560.3:c.1150T>C	NP_056375.2:p.Leu384=
NM_130833.3:c.1153T>C	NP_570846.1:p.Leu385=
NM_130835.3:c.1207T>C	NP_570848.1:p.Leu403=
NM_130837.3:c.1315T>C MANE Select	NP_570850.2:p.Leu439=