Canonical Allele Identifier: CA90527319

Gene: OPA1

Linked Data

• dbSNP Id: rs548726972
• gnomAD v4: 3-193637863-T-TA
• MyVariant Identifiers: chr3:g.193355652_193355653insA (hg19) ; chr3:g.193637863_193637864insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637869dup , CM000665.2:g.193637869dup	GRCh38
NC_000003.11:g.193355658dup , CM000665.1:g.193355658dup	GRCh37
NC_000003.10:g.194838352dup	NCBI36
NG_011605.1:g.49726dup , LRG_337:g.49726dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1036-83dup MANE Select	ENSP00000355324.2:n.1036-83dup
ENST00000361828.7:c.871-83dup	ENSP00000354429.3:n.871-83dup
ENST00000361908.8:c.982-83dup	ENSP00000354681.3:n.982-83dup
ENST00000392436.7:c.871-83dup	ENSP00000376231.3:n.871-83dup
ENST00000392437.6:c.925-83dup	ENSP00000376232.2:n.925-83dup
ENST00000642289.1:c.966-83dup
ENST00000642445.1:c.871-83dup	ENSP00000495535.1:n.871-83dup
ENST00000642593.1:c.871-83dup	ENSP00000494273.1:n.871-83dup
ENST00000643329.1:c.553-83dup	ENSP00000493673.1:n.553-83dup
ENST00000643737.1:c.*952-83dup	ENSP00000494210.1:n.*952-83dup
ENST00000644595.1:c.871-83dup	ENSP00000494121.1:n.871-83dup
ENST00000644629.1:c.531-83dup
ENST00000644841.1:c.499-83dup	ENSP00000493988.1:n.499-83dup
ENST00000644959.1:c.840-83dup
ENST00000645553.1:c.886-83dup	ENSP00000494725.1:n.886-83dup
ENST00000646085.1:c.*349-83dup	ENSP00000494509.1:n.*349-83dup
ENST00000646277.1:c.1036-83dup	ENSP00000495289.1:n.1036-83dup
ENST00000646699.1:c.966-83dup
ENST00000646793.1:c.763-83dup	ENSP00000494512.1:n.763-83dup
ENST00000361150.6:c.874-83dup	ENSP00000354781.2:n.874-83dup
ENST00000361510.6:c.1036-83dup	ENSP00000355324.2:n.1036-83dup
ENST00000361715.6:c.928-83dup	ENSP00000355311.2:n.928-83dup
ENST00000361828.6:c.925-83dup	ENSP00000354429.2:n.925-83dup
ENST00000361908.7:c.982-83dup	ENSP00000354681.3:n.982-83dup
ENST00000392438.7:c.871-83dup	ENSP00000376233.3:n.871-83dup
ENST00000475899.1:n.67-83dup
ENST00000495476.1:n.392-83dup
ENST00000497189.5:n.357-83dup
NM_015560.2:c.871-83dup , LRG_337t1:c.871-83dup	NP_056375.2:n.871-83dup
NM_130831.2:c.763-83dup	NP_570844.1:n.763-83dup
NM_130832.2:c.817-83dup	NP_570845.1:n.817-83dup
NM_130833.2:c.874-83dup	NP_570846.1:n.874-83dup
NM_130834.2:c.925-83dup	NP_570847.2:n.925-83dup
NM_130835.2:c.928-83dup	NP_570848.1:n.928-83dup
NM_130836.2:c.982-83dup	NP_570849.2:n.982-83dup
NM_130837.2:c.1036-83dup , LRG_337t2:c.1036-83dup	NP_570850.2:n.1036-83dup
XM_011512863.1:c.1036-83dup	XP_011511165.1:n.1036-83dup
XM_011512864.1:c.982-83dup	XP_011511166.1:n.982-83dup
XM_011512865.1:c.925-83dup	XP_011511167.1:n.925-83dup
XM_011512866.1:c.874-83dup	XP_011511168.1:n.874-83dup
XM_011512867.1:c.871-83dup	XP_011511169.1:n.871-83dup
XM_011512868.1:c.763-83dup	XP_011511170.1:n.763-83dup
XM_011512869.1:c.1036-83dup	XP_011511171.1:n.1036-83dup
NM_001354663.1:c.502-83dup	NP_001341592.1:n.502-83dup
NM_001354664.1:c.499-83dup	NP_001341593.1:n.499-83dup
XR_001740158.2:n.1265-83dup
XR_001740159.2:n.1100-83dup
NM_001354663.2:c.502-83dup	NP_001341592.1:n.502-83dup
NM_001354664.2:c.499-83dup	NP_001341593.1:n.499-83dup
NM_130831.3:c.763-83dup	NP_570844.1:n.763-83dup
NM_130832.3:c.817-83dup	NP_570845.1:n.817-83dup
NM_130834.3:c.925-83dup	NP_570847.2:n.925-83dup
NM_130836.3:c.982-83dup	NP_570849.2:n.982-83dup
NM_015560.3:c.871-83dup	NP_056375.2:n.871-83dup
NM_130833.3:c.874-83dup	NP_570846.1:n.874-83dup
NM_130835.3:c.928-83dup	NP_570848.1:n.928-83dup
NM_130837.3:c.1036-83dup MANE Select	NP_570850.2:n.1036-83dup