Canonical Allele Identifier: CA355788217

Gene: OPA1 OPA1-AS1

Linked Data

• MyVariant Identifiers: chr3:g.193336682G>T (hg19) ; chr3:g.193618893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193618893G>T , CM000665.2:g.193618893G>T	GRCh38
NC_000003.11:g.193336682G>T , CM000665.1:g.193336682G>T	GRCh37
NC_000003.10:g.194819376G>T	NCBI36
NG_011605.1:g.30750G>T , LRG_337:g.30750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.635G>T (OPA1) MANE Select	ENSP00000355324.2:p.Arg212Ile
ENST00000361828.7:c.581G>T (OPA1)	ENSP00000354429.3:p.Arg194Ile
ENST00000361908.8:c.581G>T (OPA1)	ENSP00000354681.3:p.Arg194Ile
ENST00000392436.7:c.581G>T (OPA1)	ENSP00000376231.3:p.Arg194Ile
ENST00000392437.6:c.635G>T (OPA1)	ENSP00000376232.2:p.Arg212Ile
ENST00000434811.2:c.421G>T (OPA1)
ENST00000642289.1:c.676G>T (OPA1)
ENST00000642445.1:c.581G>T (OPA1)	ENSP00000495535.1:p.Arg194Ile
ENST00000642593.1:c.581G>T (OPA1)	ENSP00000494273.1:p.Arg194Ile
ENST00000643329.1:c.263G>T (OPA1)	ENSP00000493673.1:p.Arg88Ile
ENST00000643737.1:c.*662G>T (OPA1)	ENSP00000494210.1:n.*662G>T
ENST00000644595.1:c.581G>T (OPA1)	ENSP00000494121.1:p.Arg194Ile
ENST00000644629.1:c.241G>T (OPA1)
ENST00000644841.1:c.209G>T (OPA1)	ENSP00000493988.1:p.Arg70Ile
ENST00000644959.1:c.550G>T (OPA1)
ENST00000645553.1:c.581G>T (OPA1)	ENSP00000494725.1:p.Arg194Ile
ENST00000646085.1:c.581G>T (OPA1)	ENSP00000494509.1:p.Arg194Ile
ENST00000646277.1:c.635G>T (OPA1)	ENSP00000495289.1:p.Arg212Ile
ENST00000646699.1:c.676G>T (OPA1)
ENST00000646793.1:c.473G>T (OPA1)	ENSP00000494512.1:p.Arg158Ile
ENST00000361150.6:c.473G>T (OPA1)	ENSP00000354781.2:p.Arg158Ile
ENST00000361510.6:c.635G>T (OPA1)	ENSP00000355324.2:p.Arg212Ile
ENST00000361715.6:c.527G>T (OPA1)	ENSP00000355311.2:p.Arg176Ile
ENST00000361828.6:c.635G>T (OPA1)	ENSP00000354429.2:p.Arg212Ile
ENST00000361908.7:c.581G>T (OPA1)	ENSP00000354681.3:p.Arg194Ile
ENST00000392436.6:c.635G>T (OPA1)	ENSP00000376231.2:p.Arg212Ile
ENST00000392437.5:c.473G>T (OPA1)	ENSP00000376232.1:p.Arg158Ile
ENST00000392438.7:c.581G>T (OPA1)	ENSP00000376233.3:p.Arg194Ile
ENST00000419435.5:c.209G>T (OPA1)	ENSP00000399877.1:p.Arg70Ile
ENST00000434811.1:c.334G>T (OPA1)
ENST00000487986.1:n.484G>T (OPA1)
ENST00000497189.5:n.67G>T (OPA1)
NM_015560.2:c.581G>T , LRG_337t1:c.581G>T (OPA1)	NP_056375.2:p.Arg194Ile
NM_130831.2:c.473G>T (OPA1)	NP_570844.1:p.Arg158Ile
NM_130832.2:c.527G>T (OPA1)	NP_570845.1:p.Arg176Ile
NM_130833.2:c.473G>T (OPA1)	NP_570846.1:p.Arg158Ile
NM_130834.2:c.635G>T (OPA1)	NP_570847.2:p.Arg212Ile
NM_130835.2:c.527G>T (OPA1)	NP_570848.1:p.Arg176Ile
NM_130836.2:c.581G>T (OPA1)	NP_570849.2:p.Arg194Ile
NM_130837.2:c.635G>T , LRG_337t2:c.635G>T (OPA1)	NP_570850.2:p.Arg212Ile
NR_046634.1:n.208C>A (OPA1-AS1)
XM_011512863.1:c.635G>T (OPA1)	XP_011511165.1:p.Arg212Ile
XM_011512864.1:c.581G>T (OPA1)	XP_011511166.1:p.Arg194Ile
XM_011512865.1:c.635G>T (OPA1)	XP_011511167.1:p.Arg212Ile
XM_011512866.1:c.473G>T (OPA1)	XP_011511168.1:p.Arg158Ile
XM_011512867.1:c.581G>T (OPA1)	XP_011511169.1:p.Arg194Ile
XM_011512868.1:c.473G>T (OPA1)	XP_011511170.1:p.Arg158Ile
XM_011512869.1:c.635G>T (OPA1)	XP_011511171.1:p.Arg212Ile
NM_001354663.1:c.101G>T (OPA1)	NP_001341592.1:p.Arg34Ile
NM_001354664.1:c.209G>T (OPA1)	NP_001341593.1:p.Arg70Ile
XR_001740158.2:n.864G>T (OPA1)
XR_001740159.2:n.810G>T (OPA1)
NM_001354663.2:c.101G>T (OPA1)	NP_001341592.1:p.Arg34Ile
NM_001354664.2:c.209G>T (OPA1)	NP_001341593.1:p.Arg70Ile
NM_130831.3:c.473G>T (OPA1)	NP_570844.1:p.Arg158Ile
NM_130832.3:c.527G>T (OPA1)	NP_570845.1:p.Arg176Ile
NM_130834.3:c.635G>T (OPA1)	NP_570847.2:p.Arg212Ile
NM_130836.3:c.581G>T (OPA1)	NP_570849.2:p.Arg194Ile
NM_015560.3:c.581G>T (OPA1)	NP_056375.2:p.Arg194Ile
NM_130833.3:c.473G>T (OPA1)	NP_570846.1:p.Arg158Ile
NM_130835.3:c.527G>T (OPA1)	NP_570848.1:p.Arg176Ile
NM_130837.3:c.635G>T (OPA1) MANE Select	NP_570850.2:p.Arg212Ile