Canonical Allele Identifier: CA355788231

Gene: OPA1 OPA1-AS1

Linked Data

• ClinVar Variation Id: 2872548
• ClinVar RCV Id: RCV003706907
• MyVariant Identifiers: chr3:g.193336687A>G (hg19) ; chr3:g.193618898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193618898A>G , CM000665.2:g.193618898A>G	GRCh38
NC_000003.11:g.193336687A>G , CM000665.1:g.193336687A>G	GRCh37
NC_000003.10:g.194819381A>G	NCBI36
NG_011605.1:g.30755A>G , LRG_337:g.30755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.640A>G (OPA1) MANE Select	ENSP00000355324.2:p.Thr214Ala
ENST00000361828.7:c.586A>G (OPA1)	ENSP00000354429.3:p.Thr196Ala
ENST00000361908.8:c.586A>G (OPA1)	ENSP00000354681.3:p.Thr196Ala
ENST00000392436.7:c.586A>G (OPA1)	ENSP00000376231.3:p.Thr196Ala
ENST00000392437.6:c.640A>G (OPA1)	ENSP00000376232.2:p.Thr214Ala
ENST00000434811.2:c.426A>G (OPA1)
ENST00000642289.1:c.681A>G (OPA1)
ENST00000642445.1:c.586A>G (OPA1)	ENSP00000495535.1:p.Thr196Ala
ENST00000642593.1:c.586A>G (OPA1)	ENSP00000494273.1:p.Thr196Ala
ENST00000643329.1:c.268A>G (OPA1)	ENSP00000493673.1:p.Thr90Ala
ENST00000643737.1:c.*667A>G (OPA1)	ENSP00000494210.1:n.*667A>G
ENST00000644595.1:c.586A>G (OPA1)	ENSP00000494121.1:p.Thr196Ala
ENST00000644629.1:c.246A>G (OPA1)
ENST00000644841.1:c.214A>G (OPA1)	ENSP00000493988.1:p.Thr72Ala
ENST00000644959.1:c.555A>G (OPA1)
ENST00000645553.1:c.586A>G (OPA1)	ENSP00000494725.1:p.Thr196Ala
ENST00000646085.1:c.586A>G (OPA1)	ENSP00000494509.1:p.Thr196Ala
ENST00000646277.1:c.640A>G (OPA1)	ENSP00000495289.1:p.Thr214Ala
ENST00000646699.1:c.681A>G (OPA1)
ENST00000646793.1:c.478A>G (OPA1)	ENSP00000494512.1:p.Thr160Ala
ENST00000361150.6:c.478A>G (OPA1)	ENSP00000354781.2:p.Thr160Ala
ENST00000361510.6:c.640A>G (OPA1)	ENSP00000355324.2:p.Thr214Ala
ENST00000361715.6:c.532A>G (OPA1)	ENSP00000355311.2:p.Thr178Ala
ENST00000361828.6:c.640A>G (OPA1)	ENSP00000354429.2:p.Thr214Ala
ENST00000361908.7:c.586A>G (OPA1)	ENSP00000354681.3:p.Thr196Ala
ENST00000392436.6:c.640A>G (OPA1)	ENSP00000376231.2:p.Thr214Ala
ENST00000392437.5:c.478A>G (OPA1)	ENSP00000376232.1:p.Thr160Ala
ENST00000392438.7:c.586A>G (OPA1)	ENSP00000376233.3:p.Thr196Ala
ENST00000419435.5:c.214A>G (OPA1)	ENSP00000399877.1:p.Thr72Ala
ENST00000434811.1:c.339A>G (OPA1)
ENST00000487986.1:n.489A>G (OPA1)
ENST00000497189.5:n.72A>G (OPA1)
NM_015560.2:c.586A>G , LRG_337t1:c.586A>G (OPA1)	NP_056375.2:p.Thr196Ala
NM_130831.2:c.478A>G (OPA1)	NP_570844.1:p.Thr160Ala
NM_130832.2:c.532A>G (OPA1)	NP_570845.1:p.Thr178Ala
NM_130833.2:c.478A>G (OPA1)	NP_570846.1:p.Thr160Ala
NM_130834.2:c.640A>G (OPA1)	NP_570847.2:p.Thr214Ala
NM_130835.2:c.532A>G (OPA1)	NP_570848.1:p.Thr178Ala
NM_130836.2:c.586A>G (OPA1)	NP_570849.2:p.Thr196Ala
NM_130837.2:c.640A>G , LRG_337t2:c.640A>G (OPA1)	NP_570850.2:p.Thr214Ala
NR_046634.1:n.203T>C (OPA1-AS1)
XM_011512863.1:c.640A>G (OPA1)	XP_011511165.1:p.Thr214Ala
XM_011512864.1:c.586A>G (OPA1)	XP_011511166.1:p.Thr196Ala
XM_011512865.1:c.640A>G (OPA1)	XP_011511167.1:p.Thr214Ala
XM_011512866.1:c.478A>G (OPA1)	XP_011511168.1:p.Thr160Ala
XM_011512867.1:c.586A>G (OPA1)	XP_011511169.1:p.Thr196Ala
XM_011512868.1:c.478A>G (OPA1)	XP_011511170.1:p.Thr160Ala
XM_011512869.1:c.640A>G (OPA1)	XP_011511171.1:p.Thr214Ala
NM_001354663.1:c.106A>G (OPA1)	NP_001341592.1:p.Thr36Ala
NM_001354664.1:c.214A>G (OPA1)	NP_001341593.1:p.Thr72Ala
XR_001740158.2:n.869A>G (OPA1)
XR_001740159.2:n.815A>G (OPA1)
NM_001354663.2:c.106A>G (OPA1)	NP_001341592.1:p.Thr36Ala
NM_001354664.2:c.214A>G (OPA1)	NP_001341593.1:p.Thr72Ala
NM_130831.3:c.478A>G (OPA1)	NP_570844.1:p.Thr160Ala
NM_130832.3:c.532A>G (OPA1)	NP_570845.1:p.Thr178Ala
NM_130834.3:c.640A>G (OPA1)	NP_570847.2:p.Thr214Ala
NM_130836.3:c.586A>G (OPA1)	NP_570849.2:p.Thr196Ala
NM_015560.3:c.586A>G (OPA1)	NP_056375.2:p.Thr196Ala
NM_130833.3:c.478A>G (OPA1)	NP_570846.1:p.Thr160Ala
NM_130835.3:c.532A>G (OPA1)	NP_570848.1:p.Thr178Ala
NM_130837.3:c.640A>G (OPA1) MANE Select	NP_570850.2:p.Thr214Ala