Canonical Allele Identifier: CA437434318

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355746T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637957T>G , CM000665.2:g.193637957T>G	GRCh38
NC_000003.11:g.193355746T>G , CM000665.1:g.193355746T>G	GRCh37
NC_000003.10:g.194838440T>G	NCBI36
NG_011605.1:g.49814T>G , LRG_337:g.49814T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1041T>G MANE Select	ENSP00000355324.2:p.Val347=
ENST00000361828.7:c.876T>G	ENSP00000354429.3:p.Val292=
ENST00000361908.8:c.987T>G	ENSP00000354681.3:p.Val329=
ENST00000392436.7:c.876T>G	ENSP00000376231.3:p.Val292=
ENST00000392437.6:c.930T>G	ENSP00000376232.2:p.Val310=
ENST00000642289.1:c.971T>G
ENST00000642445.1:c.876T>G	ENSP00000495535.1:p.Val292=
ENST00000642593.1:c.876T>G	ENSP00000494273.1:p.Val292=
ENST00000643329.1:c.558T>G	ENSP00000493673.1:p.Val186=
ENST00000643737.1:c.*957T>G	ENSP00000494210.1:n.*957T>G
ENST00000644595.1:c.876T>G	ENSP00000494121.1:p.Val292=
ENST00000644629.1:c.536T>G
ENST00000644841.1:c.504T>G	ENSP00000493988.1:p.Val168=
ENST00000644959.1:c.845T>G
ENST00000645553.1:c.891T>G	ENSP00000494725.1:p.Val297=
ENST00000646085.1:c.*354T>G	ENSP00000494509.1:n.*354T>G
ENST00000646277.1:c.1041T>G	ENSP00000495289.1:p.Val347=
ENST00000646699.1:c.971T>G
ENST00000646793.1:c.768T>G	ENSP00000494512.1:p.Val256=
ENST00000361150.6:c.879T>G	ENSP00000354781.2:p.Val293=
ENST00000361510.6:c.1041T>G	ENSP00000355324.2:p.Val347=
ENST00000361715.6:c.933T>G	ENSP00000355311.2:p.Val311=
ENST00000361828.6:c.930T>G	ENSP00000354429.2:p.Val310=
ENST00000361908.7:c.987T>G	ENSP00000354681.3:p.Val329=
ENST00000392438.7:c.876T>G	ENSP00000376233.3:p.Val292=
ENST00000475899.1:n.72T>G
ENST00000495476.1:n.397T>G
ENST00000497189.5:n.362T>G
NM_015560.2:c.876T>G , LRG_337t1:c.876T>G	NP_056375.2:p.Val292=
NM_130831.2:c.768T>G	NP_570844.1:p.Val256=
NM_130832.2:c.822T>G	NP_570845.1:p.Val274=
NM_130833.2:c.879T>G	NP_570846.1:p.Val293=
NM_130834.2:c.930T>G	NP_570847.2:p.Val310=
NM_130835.2:c.933T>G	NP_570848.1:p.Val311=
NM_130836.2:c.987T>G	NP_570849.2:p.Val329=
NM_130837.2:c.1041T>G , LRG_337t2:c.1041T>G	NP_570850.2:p.Val347=
XM_011512863.1:c.1041T>G	XP_011511165.1:p.Val347=
XM_011512864.1:c.987T>G	XP_011511166.1:p.Val329=
XM_011512865.1:c.930T>G	XP_011511167.1:p.Val310=
XM_011512866.1:c.879T>G	XP_011511168.1:p.Val293=
XM_011512867.1:c.876T>G	XP_011511169.1:p.Val292=
XM_011512868.1:c.768T>G	XP_011511170.1:p.Val256=
XM_011512869.1:c.1041T>G	XP_011511171.1:p.Val347=
NM_001354663.1:c.507T>G	NP_001341592.1:p.Val169=
NM_001354664.1:c.504T>G	NP_001341593.1:p.Val168=
XR_001740158.2:n.1270T>G
XR_001740159.2:n.1105T>G
NM_001354663.2:c.507T>G	NP_001341592.1:p.Val169=
NM_001354664.2:c.504T>G	NP_001341593.1:p.Val168=
NM_130831.3:c.768T>G	NP_570844.1:p.Val256=
NM_130832.3:c.822T>G	NP_570845.1:p.Val274=
NM_130834.3:c.930T>G	NP_570847.2:p.Val310=
NM_130836.3:c.987T>G	NP_570849.2:p.Val329=
NM_015560.3:c.876T>G	NP_056375.2:p.Val292=
NM_130833.3:c.879T>G	NP_570846.1:p.Val293=
NM_130835.3:c.933T>G	NP_570848.1:p.Val311=
NM_130837.3:c.1041T>G MANE Select	NP_570850.2:p.Val347=