Canonical Allele Identifier: CA437435442

Gene: OPA1

Linked Data

• dbSNP Id: rs1284210898
• gnomAD v2: 3-193360574-T-G
• gnomAD v4: 3-193642785-T-G
• MyVariant Identifiers: chr3:g.193360574T>G (hg19) ; chr3:g.193642785T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642785T>G , CM000665.2:g.193642785T>G	GRCh38
NC_000003.11:g.193360574T>G , CM000665.1:g.193360574T>G	GRCh37
NC_000003.10:g.194843268T>G	NCBI36
NG_011605.1:g.54642T>G , LRG_337:g.54642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1170T>G MANE Select	ENSP00000355324.2:p.Pro390=
ENST00000361828.7:c.1005T>G	ENSP00000354429.3:p.Pro335=
ENST00000361908.8:c.1116T>G	ENSP00000354681.3:p.Pro372=
ENST00000392436.7:c.1005T>G	ENSP00000376231.3:p.Pro335=
ENST00000392437.6:c.1059T>G	ENSP00000376232.2:p.Pro353=
ENST00000642289.1:c.1080-588T>G
ENST00000642445.1:c.1005T>G	ENSP00000495535.1:p.Pro335=
ENST00000642593.1:c.1005T>G	ENSP00000494273.1:p.Pro335=
ENST00000643329.1:c.687T>G	ENSP00000493673.1:p.Pro229=
ENST00000643737.1:c.*1086T>G	ENSP00000494210.1:n.*1086T>G
ENST00000644595.1:c.1005T>G	ENSP00000494121.1:p.Pro335=
ENST00000644629.1:c.665T>G
ENST00000644841.1:c.633T>G	ENSP00000493988.1:p.Pro211=
ENST00000644959.1:c.974T>G
ENST00000645553.1:c.1020T>G	ENSP00000494725.1:p.Pro340=
ENST00000646085.1:c.*483T>G	ENSP00000494509.1:n.*483T>G
ENST00000646277.1:c.1170T>G	ENSP00000495289.1:p.Pro390=
ENST00000646544.1:c.68T>G
ENST00000646699.1:c.1080-588T>G
ENST00000646793.1:c.897T>G	ENSP00000494512.1:p.Pro299=
ENST00000361150.6:c.1008T>G	ENSP00000354781.2:p.Pro336=
ENST00000361510.6:c.1170T>G	ENSP00000355324.2:p.Pro390=
ENST00000361715.6:c.1062T>G	ENSP00000355311.2:p.Pro354=
ENST00000361828.6:c.1059T>G	ENSP00000354429.2:p.Pro353=
ENST00000361908.7:c.1116T>G	ENSP00000354681.3:p.Pro372=
ENST00000392438.7:c.1005T>G	ENSP00000376233.3:p.Pro335=
ENST00000475899.1:n.201T>G
ENST00000497189.5:n.491T>G
NM_015560.2:c.1005T>G , LRG_337t1:c.1005T>G	NP_056375.2:p.Pro335=
NM_130831.2:c.897T>G	NP_570844.1:p.Pro299=
NM_130832.2:c.951T>G	NP_570845.1:p.Pro317=
NM_130833.2:c.1008T>G	NP_570846.1:p.Pro336=
NM_130834.2:c.1059T>G	NP_570847.2:p.Pro353=
NM_130835.2:c.1062T>G	NP_570848.1:p.Pro354=
NM_130836.2:c.1116T>G	NP_570849.2:p.Pro372=
NM_130837.2:c.1170T>G , LRG_337t2:c.1170T>G	NP_570850.2:p.Pro390=
XM_011512863.1:c.1170T>G	XP_011511165.1:p.Pro390=
XM_011512864.1:c.1116T>G	XP_011511166.1:p.Pro372=
XM_011512865.1:c.1059T>G	XP_011511167.1:p.Pro353=
XM_011512866.1:c.1008T>G	XP_011511168.1:p.Pro336=
XM_011512867.1:c.1005T>G	XP_011511169.1:p.Pro335=
XM_011512868.1:c.897T>G	XP_011511170.1:p.Pro299=
XM_011512869.1:c.1170T>G	XP_011511171.1:p.Pro390=
NM_001354663.1:c.636T>G	NP_001341592.1:p.Pro212=
NM_001354664.1:c.633T>G	NP_001341593.1:p.Pro211=
XR_001740158.2:n.1399T>G
XR_001740159.2:n.1234T>G
NM_001354663.2:c.636T>G	NP_001341592.1:p.Pro212=
NM_001354664.2:c.633T>G	NP_001341593.1:p.Pro211=
NM_130831.3:c.897T>G	NP_570844.1:p.Pro299=
NM_130832.3:c.951T>G	NP_570845.1:p.Pro317=
NM_130834.3:c.1059T>G	NP_570847.2:p.Pro353=
NM_130836.3:c.1116T>G	NP_570849.2:p.Pro372=
NM_015560.3:c.1005T>G	NP_056375.2:p.Pro335=
NM_130833.3:c.1008T>G	NP_570846.1:p.Pro336=
NM_130835.3:c.1062T>G	NP_570848.1:p.Pro354=
NM_130837.3:c.1170T>G MANE Select	NP_570850.2:p.Pro390=