Canonical Allele Identifier: CA437436038

Gene: OPA1

Linked Data

• gnomAD v4: 3-193643417-G-A
• MyVariant Identifiers: chr3:g.193361206G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643417G>A , CM000665.2:g.193643417G>A	GRCh38
NC_000003.11:g.193361206G>A , CM000665.1:g.193361206G>A	GRCh37
NC_000003.10:g.194843900G>A	NCBI36
NG_011605.1:g.55274G>A , LRG_337:g.55274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1350G>A MANE Select	ENSP00000355324.2:p.Val450=
ENST00000361828.7:c.1185G>A	ENSP00000354429.3:p.Val395=
ENST00000361908.8:c.1296G>A	ENSP00000354681.3:p.Val432=
ENST00000392436.7:c.1185G>A	ENSP00000376231.3:p.Val395=
ENST00000392437.6:c.1239G>A	ENSP00000376232.2:p.Val413=
ENST00000642289.1:c.1124G>A
ENST00000642445.1:c.1185G>A	ENSP00000495535.1:p.Val395=
ENST00000642593.1:c.1185G>A	ENSP00000494273.1:p.Val395=
ENST00000643329.1:c.867G>A	ENSP00000493673.1:p.Val289=
ENST00000643737.1:c.*1266G>A	ENSP00000494210.1:n.*1266G>A
ENST00000644595.1:c.1185G>A	ENSP00000494121.1:p.Val395=
ENST00000644629.1:c.845G>A
ENST00000644841.1:c.813G>A	ENSP00000493988.1:p.Val271=
ENST00000644959.1:c.1154G>A
ENST00000645553.1:c.1200G>A	ENSP00000494725.1:p.Val400=
ENST00000646085.1:c.*663G>A	ENSP00000494509.1:n.*663G>A
ENST00000646277.1:c.1350G>A	ENSP00000495289.1:p.Val450=
ENST00000646544.1:c.173G>A
ENST00000646699.1:c.1124G>A
ENST00000646793.1:c.1077G>A	ENSP00000494512.1:p.Val359=
ENST00000361150.6:c.1188G>A	ENSP00000354781.2:p.Val396=
ENST00000361510.6:c.1350G>A	ENSP00000355324.2:p.Val450=
ENST00000361715.6:c.1242G>A	ENSP00000355311.2:p.Val414=
ENST00000361828.6:c.1239G>A	ENSP00000354429.2:p.Val413=
ENST00000361908.7:c.1296G>A	ENSP00000354681.3:p.Val432=
ENST00000392438.7:c.1185G>A	ENSP00000376233.3:p.Val395=
ENST00000475899.1:n.381G>A
NM_015560.2:c.1185G>A , LRG_337t1:c.1185G>A	NP_056375.2:p.Val395=
NM_130831.2:c.1077G>A	NP_570844.1:p.Val359=
NM_130832.2:c.1131G>A	NP_570845.1:p.Val377=
NM_130833.2:c.1188G>A	NP_570846.1:p.Val396=
NM_130834.2:c.1239G>A	NP_570847.2:p.Val413=
NM_130835.2:c.1242G>A	NP_570848.1:p.Val414=
NM_130836.2:c.1296G>A	NP_570849.2:p.Val432=
NM_130837.2:c.1350G>A , LRG_337t2:c.1350G>A	NP_570850.2:p.Val450=
XM_011512863.1:c.1350G>A	XP_011511165.1:p.Val450=
XM_011512864.1:c.1296G>A	XP_011511166.1:p.Val432=
XM_011512865.1:c.1239G>A	XP_011511167.1:p.Val413=
XM_011512866.1:c.1188G>A	XP_011511168.1:p.Val396=
XM_011512867.1:c.1185G>A	XP_011511169.1:p.Val395=
XM_011512868.1:c.1077G>A	XP_011511170.1:p.Val359=
XM_011512869.1:c.1350G>A	XP_011511171.1:p.Val450=
NM_001354663.1:c.816G>A	NP_001341592.1:p.Val272=
NM_001354664.1:c.813G>A	NP_001341593.1:p.Val271=
XR_001740158.2:n.1579G>A
XR_001740159.2:n.1414G>A
NM_001354663.2:c.816G>A	NP_001341592.1:p.Val272=
NM_001354664.2:c.813G>A	NP_001341593.1:p.Val271=
NM_130831.3:c.1077G>A	NP_570844.1:p.Val359=
NM_130832.3:c.1131G>A	NP_570845.1:p.Val377=
NM_130834.3:c.1239G>A	NP_570847.2:p.Val413=
NM_130836.3:c.1296G>A	NP_570849.2:p.Val432=
NM_015560.3:c.1185G>A	NP_056375.2:p.Val395=
NM_130833.3:c.1188G>A	NP_570846.1:p.Val396=
NM_130835.3:c.1242G>A	NP_570848.1:p.Val414=
NM_130837.3:c.1350G>A MANE Select	NP_570850.2:p.Val450=