Canonical Allele Identifier: CA437437494

Gene: OPA1

Linked Data

• gnomAD v4: 3-193647065-G-A
• MyVariant Identifiers: chr3:g.193364854G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647065G>A , CM000665.2:g.193647065G>A	GRCh38
NC_000003.11:g.193364854G>A , CM000665.1:g.193364854G>A	GRCh37
NC_000003.10:g.194847548G>A	NCBI36
NG_011605.1:g.58922G>A , LRG_337:g.58922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1755G>A MANE Select	ENSP00000355324.2:p.Lys585=
ENST00000361828.7:c.1590G>A	ENSP00000354429.3:p.Lys530=
ENST00000361908.8:c.1701G>A	ENSP00000354681.3:p.Lys567=
ENST00000392436.7:c.1590G>A	ENSP00000376231.3:p.Lys530=
ENST00000392437.6:c.1644G>A	ENSP00000376232.2:p.Lys548=
ENST00000642289.1:c.1529G>A
ENST00000642445.1:c.1590G>A	ENSP00000495535.1:p.Lys530=
ENST00000642593.1:c.1590G>A	ENSP00000494273.1:p.Lys530=
ENST00000643329.1:c.1272G>A	ENSP00000493673.1:p.Lys424=
ENST00000643737.1:c.*1671G>A	ENSP00000494210.1:n.*1671G>A
ENST00000644595.1:c.1590G>A	ENSP00000494121.1:p.Lys530=
ENST00000644629.1:c.1177G>A
ENST00000644841.1:c.*74G>A	ENSP00000493988.1:n.*74G>A
ENST00000644959.1:c.1559G>A
ENST00000645553.1:c.1605G>A	ENSP00000494725.1:p.Lys535=
ENST00000646085.1:c.*1068G>A	ENSP00000494509.1:n.*1068G>A
ENST00000646277.1:c.*191G>A	ENSP00000495289.1:n.*191G>A
ENST00000646544.1:c.578G>A
ENST00000646699.1:c.1529G>A
ENST00000646793.1:c.1482G>A	ENSP00000494512.1:p.Lys494=
ENST00000361150.6:c.1593G>A	ENSP00000354781.2:p.Lys531=
ENST00000361510.6:c.1755G>A	ENSP00000355324.2:p.Lys585=
ENST00000361715.6:c.1647G>A	ENSP00000355311.2:p.Lys549=
ENST00000361828.6:c.1644G>A	ENSP00000354429.2:p.Lys548=
ENST00000361908.7:c.1701G>A	ENSP00000354681.3:p.Lys567=
ENST00000392438.7:c.1590G>A	ENSP00000376233.3:p.Lys530=
ENST00000483516.1:n.88G>A
NM_015560.2:c.1590G>A , LRG_337t1:c.1590G>A	NP_056375.2:p.Lys530=
NM_130831.2:c.1482G>A	NP_570844.1:p.Lys494=
NM_130832.2:c.1536G>A	NP_570845.1:p.Lys512=
NM_130833.2:c.1593G>A	NP_570846.1:p.Lys531=
NM_130834.2:c.1644G>A	NP_570847.2:p.Lys548=
NM_130835.2:c.1647G>A	NP_570848.1:p.Lys549=
NM_130836.2:c.1701G>A	NP_570849.2:p.Lys567=
NM_130837.2:c.1755G>A , LRG_337t2:c.1755G>A	NP_570850.2:p.Lys585=
XM_011512863.1:c.1755G>A	XP_011511165.1:p.Lys585=
XM_011512864.1:c.1701G>A	XP_011511166.1:p.Lys567=
XM_011512865.1:c.1644G>A	XP_011511167.1:p.Lys548=
XM_011512866.1:c.1593G>A	XP_011511168.1:p.Lys531=
XM_011512867.1:c.1590G>A	XP_011511169.1:p.Lys530=
XM_011512868.1:c.1482G>A	XP_011511170.1:p.Lys494=
XM_011512869.1:c.1755G>A	XP_011511171.1:p.Lys585=
NM_001354663.1:c.1221G>A	NP_001341592.1:p.Lys407=
NM_001354664.1:c.1218G>A	NP_001341593.1:p.Lys406=
XR_001740158.2:n.1984G>A
XR_001740159.2:n.1819G>A
NM_001354663.2:c.1221G>A	NP_001341592.1:p.Lys407=
NM_001354664.2:c.1218G>A	NP_001341593.1:p.Lys406=
NM_130831.3:c.1482G>A	NP_570844.1:p.Lys494=
NM_130832.3:c.1536G>A	NP_570845.1:p.Lys512=
NM_130834.3:c.1644G>A	NP_570847.2:p.Lys548=
NM_130836.3:c.1701G>A	NP_570849.2:p.Lys567=
NM_015560.3:c.1590G>A	NP_056375.2:p.Lys530=
NM_130833.3:c.1593G>A	NP_570846.1:p.Lys531=
NM_130835.3:c.1647G>A	NP_570848.1:p.Lys549=
NM_130837.3:c.1755G>A MANE Select	NP_570850.2:p.Lys585=