Canonical Allele Identifier: CA285712

Gene: OPA1

Linked Data

• ClinVar Variation Id: 95717
• ClinVar RCV Id: RCV000081757 ; RCV000576858 ; RCV000676700 ; RCV001787888 ; RCV001787889 ; RCV001787887
• dbSNP Id: rs9851685
• ExAC: 3:193374964 T / C
• gnomAD v2: 3-193374964-T-C
• gnomAD v3: 3-193657175-T-C
• gnomAD v4: 3-193657175-T-C
• MyVariant Identifiers: chr3:g.193374964T>C (hg19) ; chr3:g.193657175T>C (hg38)
• PubMed: PMID:11440989

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193657175T>C , CM000665.2:g.193657175T>C	GRCh38
NC_000003.11:g.193374964T>C , CM000665.1:g.193374964T>C	GRCh37
NC_000003.10:g.194857658T>C	NCBI36
NG_011605.1:g.69032T>C , LRG_337:g.69032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2274T>C MANE Select	ENSP00000355324.2:p.Ala758=
ENST00000361828.7:c.2109T>C	ENSP00000354429.3:p.Ala703=
ENST00000361908.8:c.2220T>C	ENSP00000354681.3:p.Ala740=
ENST00000392436.7:c.2109T>C	ENSP00000376231.3:p.Ala703=
ENST00000392437.6:c.2163T>C	ENSP00000376232.2:p.Ala721=
ENST00000642289.1:c.2048T>C
ENST00000642445.1:c.2109T>C	ENSP00000495535.1:p.Ala703=
ENST00000642593.1:c.*334T>C	ENSP00000494273.1:n.*334T>C
ENST00000643329.1:c.1791T>C	ENSP00000493673.1:p.Ala597=
ENST00000643737.1:c.*2190T>C	ENSP00000494210.1:n.*2190T>C
ENST00000644595.1:c.2109T>C	ENSP00000494121.1:p.Ala703=
ENST00000644629.1:c.1696T>C
ENST00000644841.1:c.*593T>C	ENSP00000493988.1:n.*593T>C
ENST00000644959.1:c.2103T>C
ENST00000645553.1:c.2124T>C	ENSP00000494725.1:p.Ala708=
ENST00000646085.1:c.*1587T>C	ENSP00000494509.1:n.*1587T>C
ENST00000646277.1:c.*710T>C	ENSP00000495289.1:n.*710T>C
ENST00000646544.1:c.1097T>C
ENST00000646699.1:c.2048T>C
ENST00000646793.1:c.2001T>C	ENSP00000494512.1:p.Ala667=
ENST00000361150.6:c.2112T>C	ENSP00000354781.2:p.Ala704=
ENST00000361510.6:c.2274T>C	ENSP00000355324.2:p.Ala758=
ENST00000361715.6:c.2166T>C	ENSP00000355311.2:p.Ala722=
ENST00000361828.6:c.2163T>C	ENSP00000354429.2:p.Ala721=
ENST00000361908.7:c.2220T>C	ENSP00000354681.3:p.Ala740=
ENST00000392438.7:c.2109T>C	ENSP00000376233.3:p.Ala703=
ENST00000482865.1:n.368T>C
NM_015560.2:c.2109T>C , LRG_337t1:c.2109T>C	NP_056375.2:p.Ala703=
NM_130831.2:c.2001T>C	NP_570844.1:p.Ala667=
NM_130832.2:c.2055T>C	NP_570845.1:p.Ala685=
NM_130833.2:c.2112T>C	NP_570846.1:p.Ala704=
NM_130834.2:c.2163T>C	NP_570847.2:p.Ala721=
NM_130835.2:c.2166T>C	NP_570848.1:p.Ala722=
NM_130836.2:c.2220T>C	NP_570849.2:p.Ala740=
NM_130837.2:c.2274T>C , LRG_337t2:c.2274T>C	NP_570850.2:p.Ala758=
XM_011512863.1:c.2274T>C	XP_011511165.1:p.Ala758=
XM_011512864.1:c.2220T>C	XP_011511166.1:p.Ala740=
XM_011512865.1:c.2163T>C	XP_011511167.1:p.Ala721=
XM_011512866.1:c.2112T>C	XP_011511168.1:p.Ala704=
XM_011512867.1:c.2109T>C	XP_011511169.1:p.Ala703=
XM_011512868.1:c.2001T>C	XP_011511170.1:p.Ala667=
XR_924835.1:n.583-9865A>G
NM_001354663.1:c.1740T>C	NP_001341592.1:p.Ala580=
NM_001354664.1:c.1737T>C	NP_001341593.1:p.Ala579=
XR_001740158.2:n.2528T>C
XR_001740159.2:n.2363T>C
XR_001741074.1:n.476-9865A>G
XR_924835.2:n.601-9865A>G
NM_001354663.2:c.1740T>C	NP_001341592.1:p.Ala580=
NM_001354664.2:c.1737T>C	NP_001341593.1:p.Ala579=
NM_130831.3:c.2001T>C	NP_570844.1:p.Ala667=
NM_130832.3:c.2055T>C	NP_570845.1:p.Ala685=
NM_130834.3:c.2163T>C	NP_570847.2:p.Ala721=
NM_130836.3:c.2220T>C	NP_570849.2:p.Ala740=
NM_015560.3:c.2109T>C	NP_056375.2:p.Ala703=
NM_130833.3:c.2112T>C	NP_570846.1:p.Ala704=
NM_130835.3:c.2166T>C	NP_570848.1:p.Ala722=
NM_130837.3:c.2274T>C MANE Select	NP_570850.2:p.Ala758=