Canonical Allele Identifier: CA2759401

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2120334
• ClinVar RCV Id: RCV003025099
• dbSNP Id: rs773148365
• ExAC: 3:193361801 C / T
• gnomAD v2: 3-193361801-C-T
• gnomAD v3: 3-193644012-C-T
• gnomAD v4: 3-193644012-C-T
• MyVariant Identifiers: chr3:g.193361801C>T (hg19) ; chr3:g.193644012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193644012C>T , CM000665.2:g.193644012C>T	GRCh38
NC_000003.11:g.193361801C>T , CM000665.1:g.193361801C>T	GRCh37
NC_000003.10:g.194844495C>T	NCBI36
NG_011605.1:g.55869C>T , LRG_337:g.55869C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1515C>T MANE Select	ENSP00000355324.2:p.Asp505=
ENST00000361828.7:c.1350C>T	ENSP00000354429.3:p.Asp450=
ENST00000361908.8:c.1461C>T	ENSP00000354681.3:p.Asp487=
ENST00000392436.7:c.1350C>T	ENSP00000376231.3:p.Asp450=
ENST00000392437.6:c.1404C>T	ENSP00000376232.2:p.Asp468=
ENST00000642289.1:c.1289C>T
ENST00000642445.1:c.1350C>T	ENSP00000495535.1:p.Asp450=
ENST00000642593.1:c.1350C>T	ENSP00000494273.1:p.Asp450=
ENST00000643329.1:c.1032C>T	ENSP00000493673.1:p.Asp344=
ENST00000643737.1:c.*1431C>T	ENSP00000494210.1:n.*1431C>T
ENST00000644595.1:c.1350C>T	ENSP00000494121.1:p.Asp450=
ENST00000644629.1:c.1010C>T
ENST00000644841.1:c.978C>T	ENSP00000493988.1:p.Asp326=
ENST00000644959.1:c.1319C>T
ENST00000645553.1:c.1365C>T	ENSP00000494725.1:p.Asp455=
ENST00000646085.1:c.*828C>T	ENSP00000494509.1:n.*828C>T
ENST00000646277.1:c.1538C>T	ENSP00000495289.1:p.Thr513Ile
ENST00000646544.1:c.338C>T
ENST00000646699.1:c.1289C>T
ENST00000646793.1:c.1242C>T	ENSP00000494512.1:p.Asp414=
ENST00000361150.6:c.1353C>T	ENSP00000354781.2:p.Asp451=
ENST00000361510.6:c.1515C>T	ENSP00000355324.2:p.Asp505=
ENST00000361715.6:c.1407C>T	ENSP00000355311.2:p.Asp469=
ENST00000361828.6:c.1404C>T	ENSP00000354429.2:p.Asp468=
ENST00000361908.7:c.1461C>T	ENSP00000354681.3:p.Asp487=
ENST00000392438.7:c.1350C>T	ENSP00000376233.3:p.Asp450=
ENST00000475899.1:n.546C>T
NM_015560.2:c.1350C>T , LRG_337t1:c.1350C>T	NP_056375.2:p.Asp450=
NM_130831.2:c.1242C>T	NP_570844.1:p.Asp414=
NM_130832.2:c.1296C>T	NP_570845.1:p.Asp432=
NM_130833.2:c.1353C>T	NP_570846.1:p.Asp451=
NM_130834.2:c.1404C>T	NP_570847.2:p.Asp468=
NM_130835.2:c.1407C>T	NP_570848.1:p.Asp469=
NM_130836.2:c.1461C>T	NP_570849.2:p.Asp487=
NM_130837.2:c.1515C>T , LRG_337t2:c.1515C>T	NP_570850.2:p.Asp505=
XM_011512863.1:c.1515C>T	XP_011511165.1:p.Asp505=
XM_011512864.1:c.1461C>T	XP_011511166.1:p.Asp487=
XM_011512865.1:c.1404C>T	XP_011511167.1:p.Asp468=
XM_011512866.1:c.1353C>T	XP_011511168.1:p.Asp451=
XM_011512867.1:c.1350C>T	XP_011511169.1:p.Asp450=
XM_011512868.1:c.1242C>T	XP_011511170.1:p.Asp414=
XM_011512869.1:c.1515C>T	XP_011511171.1:p.Asp505=
NM_001354663.1:c.981C>T	NP_001341592.1:p.Asp327=
NM_001354664.1:c.978C>T	NP_001341593.1:p.Asp326=
XR_001740158.2:n.1744C>T
XR_001740159.2:n.1579C>T
NM_001354663.2:c.981C>T	NP_001341592.1:p.Asp327=
NM_001354664.2:c.978C>T	NP_001341593.1:p.Asp326=
NM_130831.3:c.1242C>T	NP_570844.1:p.Asp414=
NM_130832.3:c.1296C>T	NP_570845.1:p.Asp432=
NM_130834.3:c.1404C>T	NP_570847.2:p.Asp468=
NM_130836.3:c.1461C>T	NP_570849.2:p.Asp487=
NM_015560.3:c.1350C>T	NP_056375.2:p.Asp450=
NM_130833.3:c.1353C>T	NP_570846.1:p.Asp451=
NM_130835.3:c.1407C>T	NP_570848.1:p.Asp469=
NM_130837.3:c.1515C>T MANE Select	NP_570850.2:p.Asp505=