Canonical Allele Identifier: CA285701

Gene: OPA1

Linked Data

• ClinVar Variation Id: 95711
• ClinVar RCV Id: RCV000081751 ; RCV000319475 ; RCV000676698 ; RCV003993798
• dbSNP Id: rs78767626
• ExAC: 3:193364872 A / C
• gnomAD v2: 3-193364872-A-C
• gnomAD v3: 3-193647083-A-C
• gnomAD v4: 3-193647083-A-C
• MyVariant Identifiers: chr3:g.193364872A>C (hg19) ; chr3:g.193647083A>C (hg38)
• PubMed: PMID:11440988 ; PMID:11440989 ; PMID:16785854 ; PMID:19581274

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647083A>C , CM000665.2:g.193647083A>C	GRCh38
NC_000003.11:g.193364872A>C , CM000665.1:g.193364872A>C	GRCh37
NC_000003.10:g.194847566A>C	NCBI36
NG_011605.1:g.58940A>C , LRG_337:g.58940A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1773A>C MANE Select	ENSP00000355324.2:p.Ala591=
ENST00000361828.7:c.1608A>C	ENSP00000354429.3:p.Ala536=
ENST00000361908.8:c.1719A>C	ENSP00000354681.3:p.Ala573=
ENST00000392436.7:c.1608A>C	ENSP00000376231.3:p.Ala536=
ENST00000392437.6:c.1662A>C	ENSP00000376232.2:p.Ala554=
ENST00000642289.1:c.1547A>C
ENST00000642445.1:c.1608A>C	ENSP00000495535.1:p.Ala536=
ENST00000642593.1:c.1608A>C	ENSP00000494273.1:p.Ala536=
ENST00000643329.1:c.1290A>C	ENSP00000493673.1:p.Ala430=
ENST00000643737.1:c.*1689A>C	ENSP00000494210.1:n.*1689A>C
ENST00000644595.1:c.1608A>C	ENSP00000494121.1:p.Ala536=
ENST00000644629.1:c.1195A>C
ENST00000644841.1:c.*92A>C	ENSP00000493988.1:n.*92A>C
ENST00000644959.1:c.1577A>C
ENST00000645553.1:c.1623A>C	ENSP00000494725.1:p.Ala541=
ENST00000646085.1:c.*1086A>C	ENSP00000494509.1:n.*1086A>C
ENST00000646277.1:c.*209A>C	ENSP00000495289.1:n.*209A>C
ENST00000646544.1:c.596A>C
ENST00000646699.1:c.1547A>C
ENST00000646793.1:c.1500A>C	ENSP00000494512.1:p.Ala500=
ENST00000361150.6:c.1611A>C	ENSP00000354781.2:p.Ala537=
ENST00000361510.6:c.1773A>C	ENSP00000355324.2:p.Ala591=
ENST00000361715.6:c.1665A>C	ENSP00000355311.2:p.Ala555=
ENST00000361828.6:c.1662A>C	ENSP00000354429.2:p.Ala554=
ENST00000361908.7:c.1719A>C	ENSP00000354681.3:p.Ala573=
ENST00000392438.7:c.1608A>C	ENSP00000376233.3:p.Ala536=
ENST00000483516.1:n.106A>C
NM_015560.2:c.1608A>C , LRG_337t1:c.1608A>C	NP_056375.2:p.Ala536=
NM_130831.2:c.1500A>C	NP_570844.1:p.Ala500=
NM_130832.2:c.1554A>C	NP_570845.1:p.Ala518=
NM_130833.2:c.1611A>C	NP_570846.1:p.Ala537=
NM_130834.2:c.1662A>C	NP_570847.2:p.Ala554=
NM_130835.2:c.1665A>C	NP_570848.1:p.Ala555=
NM_130836.2:c.1719A>C	NP_570849.2:p.Ala573=
NM_130837.2:c.1773A>C , LRG_337t2:c.1773A>C	NP_570850.2:p.Ala591=
XM_011512863.1:c.1773A>C	XP_011511165.1:p.Ala591=
XM_011512864.1:c.1719A>C	XP_011511166.1:p.Ala573=
XM_011512865.1:c.1662A>C	XP_011511167.1:p.Ala554=
XM_011512866.1:c.1611A>C	XP_011511168.1:p.Ala537=
XM_011512867.1:c.1608A>C	XP_011511169.1:p.Ala536=
XM_011512868.1:c.1500A>C	XP_011511170.1:p.Ala500=
XM_011512869.1:c.1773A>C	XP_011511171.1:p.Ala591=
NM_001354663.1:c.1239A>C	NP_001341592.1:p.Ala413=
NM_001354664.1:c.1236A>C	NP_001341593.1:p.Ala412=
XR_001740158.2:n.2002A>C
XR_001740159.2:n.1837A>C
NM_001354663.2:c.1239A>C	NP_001341592.1:p.Ala413=
NM_001354664.2:c.1236A>C	NP_001341593.1:p.Ala412=
NM_130831.3:c.1500A>C	NP_570844.1:p.Ala500=
NM_130832.3:c.1554A>C	NP_570845.1:p.Ala518=
NM_130834.3:c.1662A>C	NP_570847.2:p.Ala554=
NM_130836.3:c.1719A>C	NP_570849.2:p.Ala573=
NM_015560.3:c.1608A>C	NP_056375.2:p.Ala536=
NM_130833.3:c.1611A>C	NP_570846.1:p.Ala537=
NM_130835.3:c.1665A>C	NP_570848.1:p.Ala555=
NM_130837.3:c.1773A>C MANE Select	NP_570850.2:p.Ala591=