Canonical Allele Identifier: CA90527376

Gene: OPA1

Linked Data

• dbSNP Id: rs1029696925
• gnomAD v2: 3-193355727-T-C
• gnomAD v3: 3-193637938-T-C
• gnomAD v4: 3-193637938-T-C
• MyVariant Identifiers: chr3:g.193355727T>C (hg19) ; chr3:g.193637938T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637938T>C , CM000665.2:g.193637938T>C	GRCh38
NC_000003.11:g.193355727T>C , CM000665.1:g.193355727T>C	GRCh37
NC_000003.10:g.194838421T>C	NCBI36
NG_011605.1:g.49795T>C , LRG_337:g.49795T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1036-14T>C MANE Select	ENSP00000355324.2:n.1036-14T>C
ENST00000361828.7:c.871-14T>C	ENSP00000354429.3:n.871-14T>C
ENST00000361908.8:c.982-14T>C	ENSP00000354681.3:n.982-14T>C
ENST00000392436.7:c.871-14T>C	ENSP00000376231.3:n.871-14T>C
ENST00000392437.6:c.925-14T>C	ENSP00000376232.2:n.925-14T>C
ENST00000642289.1:c.966-14T>C
ENST00000642445.1:c.871-14T>C	ENSP00000495535.1:n.871-14T>C
ENST00000642593.1:c.871-14T>C	ENSP00000494273.1:n.871-14T>C
ENST00000643329.1:c.553-14T>C	ENSP00000493673.1:n.553-14T>C
ENST00000643737.1:c.*952-14T>C	ENSP00000494210.1:n.*952-14T>C
ENST00000644595.1:c.871-14T>C	ENSP00000494121.1:n.871-14T>C
ENST00000644629.1:c.531-14T>C
ENST00000644841.1:c.499-14T>C	ENSP00000493988.1:n.499-14T>C
ENST00000644959.1:c.840-14T>C
ENST00000645553.1:c.886-14T>C	ENSP00000494725.1:n.886-14T>C
ENST00000646085.1:c.*349-14T>C	ENSP00000494509.1:n.*349-14T>C
ENST00000646277.1:c.1036-14T>C	ENSP00000495289.1:n.1036-14T>C
ENST00000646699.1:c.966-14T>C
ENST00000646793.1:c.763-14T>C	ENSP00000494512.1:n.763-14T>C
ENST00000361150.6:c.874-14T>C	ENSP00000354781.2:n.874-14T>C
ENST00000361510.6:c.1036-14T>C	ENSP00000355324.2:n.1036-14T>C
ENST00000361715.6:c.928-14T>C	ENSP00000355311.2:n.928-14T>C
ENST00000361828.6:c.925-14T>C	ENSP00000354429.2:n.925-14T>C
ENST00000361908.7:c.982-14T>C	ENSP00000354681.3:n.982-14T>C
ENST00000392438.7:c.871-14T>C	ENSP00000376233.3:n.871-14T>C
ENST00000475899.1:n.67-14T>C
ENST00000495476.1:n.392-14T>C
ENST00000497189.5:n.357-14T>C
NM_015560.2:c.871-14T>C , LRG_337t1:c.871-14T>C	NP_056375.2:n.871-14T>C
NM_130831.2:c.763-14T>C	NP_570844.1:n.763-14T>C
NM_130832.2:c.817-14T>C	NP_570845.1:n.817-14T>C
NM_130833.2:c.874-14T>C	NP_570846.1:n.874-14T>C
NM_130834.2:c.925-14T>C	NP_570847.2:n.925-14T>C
NM_130835.2:c.928-14T>C	NP_570848.1:n.928-14T>C
NM_130836.2:c.982-14T>C	NP_570849.2:n.982-14T>C
NM_130837.2:c.1036-14T>C , LRG_337t2:c.1036-14T>C	NP_570850.2:n.1036-14T>C
XM_011512863.1:c.1036-14T>C	XP_011511165.1:n.1036-14T>C
XM_011512864.1:c.982-14T>C	XP_011511166.1:n.982-14T>C
XM_011512865.1:c.925-14T>C	XP_011511167.1:n.925-14T>C
XM_011512866.1:c.874-14T>C	XP_011511168.1:n.874-14T>C
XM_011512867.1:c.871-14T>C	XP_011511169.1:n.871-14T>C
XM_011512868.1:c.763-14T>C	XP_011511170.1:n.763-14T>C
XM_011512869.1:c.1036-14T>C	XP_011511171.1:n.1036-14T>C
NM_001354663.1:c.502-14T>C	NP_001341592.1:n.502-14T>C
NM_001354664.1:c.499-14T>C	NP_001341593.1:n.499-14T>C
XR_001740158.2:n.1265-14T>C
XR_001740159.2:n.1100-14T>C
NM_001354663.2:c.502-14T>C	NP_001341592.1:n.502-14T>C
NM_001354664.2:c.499-14T>C	NP_001341593.1:n.499-14T>C
NM_130831.3:c.763-14T>C	NP_570844.1:n.763-14T>C
NM_130832.3:c.817-14T>C	NP_570845.1:n.817-14T>C
NM_130834.3:c.925-14T>C	NP_570847.2:n.925-14T>C
NM_130836.3:c.982-14T>C	NP_570849.2:n.982-14T>C
NM_015560.3:c.871-14T>C	NP_056375.2:n.871-14T>C
NM_130833.3:c.874-14T>C	NP_570846.1:n.874-14T>C
NM_130835.3:c.928-14T>C	NP_570848.1:n.928-14T>C
NM_130837.3:c.1036-14T>C MANE Select	NP_570850.2:n.1036-14T>C