Canonical Allele Identifier: CA275012

Gene: OPA1

Linked Data

• ClinVar Variation Id: 5091
• ClinVar RCV Id: RCV000005396 ; RCV000081749 ; RCV000508953 ; RCV003137493 ; RCV003492285
• dbSNP Id: rs80356529
• MyVariant Identifiers: chr3:g.193361785G>A (hg19) ; chr3:g.193643996G>A (hg38)
• PubMed: PMID:4058877 ; PMID:6493699 ; PMID:12566046 ; PMID:14644237 ; PMID:15531309 ; PMID:16158427 ; PMID:16240368 ; PMID:18158317 ; PMID:19029523 ; PMID:19733158 ; PMID:20301426 ; PMID:23757202 ; PMID:23891399 ; PMID:28812649

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643996G>A , CM000665.2:g.193643996G>A	GRCh38
NC_000003.11:g.193361785G>A , CM000665.1:g.193361785G>A	GRCh37
NC_000003.10:g.194844479G>A	NCBI36
NG_011605.1:g.55853G>A , LRG_337:g.55853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1499G>A MANE Select	ENSP00000355324.2:p.Arg500His
ENST00000361828.7:c.1334G>A	ENSP00000354429.3:p.Arg445His
ENST00000361908.8:c.1445G>A	ENSP00000354681.3:p.Arg482His
ENST00000392436.7:c.1334G>A	ENSP00000376231.3:p.Arg445His
ENST00000392437.6:c.1388G>A	ENSP00000376232.2:p.Arg463His
ENST00000642289.1:c.1273G>A
ENST00000642445.1:c.1334G>A	ENSP00000495535.1:p.Arg445His
ENST00000642593.1:c.1334G>A	ENSP00000494273.1:p.Arg445His
ENST00000643329.1:c.1016G>A	ENSP00000493673.1:p.Arg339His
ENST00000643737.1:c.*1415G>A	ENSP00000494210.1:n.*1415G>A
ENST00000644595.1:c.1334G>A	ENSP00000494121.1:p.Arg445His
ENST00000644629.1:c.994G>A
ENST00000644841.1:c.962G>A	ENSP00000493988.1:p.Arg321His
ENST00000644959.1:c.1303G>A
ENST00000645553.1:c.1349G>A	ENSP00000494725.1:p.Arg450His
ENST00000646085.1:c.*812G>A	ENSP00000494509.1:n.*812G>A
ENST00000646277.1:c.1522G>A	ENSP00000495289.1:p.Ala508Thr
ENST00000646544.1:c.322G>A
ENST00000646699.1:c.1273G>A
ENST00000646793.1:c.1226G>A	ENSP00000494512.1:p.Arg409His
ENST00000361150.6:c.1337G>A	ENSP00000354781.2:p.Arg446His
ENST00000361510.6:c.1499G>A	ENSP00000355324.2:p.Arg500His
ENST00000361715.6:c.1391G>A	ENSP00000355311.2:p.Arg464His
ENST00000361828.6:c.1388G>A	ENSP00000354429.2:p.Arg463His
ENST00000361908.7:c.1445G>A	ENSP00000354681.3:p.Arg482His
ENST00000392438.7:c.1334G>A	ENSP00000376233.3:p.Arg445His
ENST00000475899.1:n.530G>A
NM_015560.2:c.1334G>A , LRG_337t1:c.1334G>A	NP_056375.2:p.Arg445His
NM_130831.2:c.1226G>A	NP_570844.1:p.Arg409His
NM_130832.2:c.1280G>A	NP_570845.1:p.Arg427His
NM_130833.2:c.1337G>A	NP_570846.1:p.Arg446His
NM_130834.2:c.1388G>A	NP_570847.2:p.Arg463His
NM_130835.2:c.1391G>A	NP_570848.1:p.Arg464His
NM_130836.2:c.1445G>A	NP_570849.2:p.Arg482His
NM_130837.2:c.1499G>A , LRG_337t2:c.1499G>A	NP_570850.2:p.Arg500His
XM_011512863.1:c.1499G>A	XP_011511165.1:p.Arg500His
XM_011512864.1:c.1445G>A	XP_011511166.1:p.Arg482His
XM_011512865.1:c.1388G>A	XP_011511167.1:p.Arg463His
XM_011512866.1:c.1337G>A	XP_011511168.1:p.Arg446His
XM_011512867.1:c.1334G>A	XP_011511169.1:p.Arg445His
XM_011512868.1:c.1226G>A	XP_011511170.1:p.Arg409His
XM_011512869.1:c.1499G>A	XP_011511171.1:p.Arg500His
NM_001354663.1:c.965G>A	NP_001341592.1:p.Arg322His
NM_001354664.1:c.962G>A	NP_001341593.1:p.Arg321His
XR_001740158.2:n.1728G>A
XR_001740159.2:n.1563G>A
NM_001354663.2:c.965G>A	NP_001341592.1:p.Arg322His
NM_001354664.2:c.962G>A	NP_001341593.1:p.Arg321His
NM_130831.3:c.1226G>A	NP_570844.1:p.Arg409His
NM_130832.3:c.1280G>A	NP_570845.1:p.Arg427His
NM_130834.3:c.1388G>A	NP_570847.2:p.Arg463His
NM_130836.3:c.1445G>A	NP_570849.2:p.Arg482His
NM_015560.3:c.1334G>A	NP_056375.2:p.Arg445His
NM_130833.3:c.1337G>A	NP_570846.1:p.Arg446His
NM_130835.3:c.1391G>A	NP_570848.1:p.Arg464His
NM_130837.3:c.1499G>A MANE Select	NP_570850.2:p.Arg500His