Canonical Allele Identifier: CA437441970

Gene: OPA1

Linked Data

• dbSNP Id: rs1252576759
• gnomAD v2: 3-193385005-T-C
• gnomAD v3: 3-193667216-T-C
• gnomAD v4: 3-193667216-T-C
• MyVariant Identifiers: chr3:g.193385005T>C (hg19) ; chr3:g.193667216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667216T>C , CM000665.2:g.193667216T>C	GRCh38
NC_000003.11:g.193385005T>C , CM000665.1:g.193385005T>C	GRCh37
NC_000003.10:g.194867699T>C	NCBI36
NG_011605.1:g.79073T>C , LRG_337:g.79073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2919T>C MANE Select	ENSP00000355324.2:p.Ala973=
ENST00000361828.7:c.2754T>C	ENSP00000354429.3:p.Ala918=
ENST00000361908.8:c.2865T>C	ENSP00000354681.3:p.Ala955=
ENST00000392436.7:c.2754T>C	ENSP00000376231.3:p.Ala918=
ENST00000392437.6:c.2808T>C	ENSP00000376232.2:p.Ala936=
ENST00000642289.1:c.2693T>C
ENST00000642445.1:c.2754T>C	ENSP00000495535.1:p.Ala918=
ENST00000642593.1:c.*979T>C	ENSP00000494273.1:n.*979T>C
ENST00000643329.1:c.2436T>C	ENSP00000493673.1:p.Ala812=
ENST00000643737.1:c.*2835T>C	ENSP00000494210.1:n.*2835T>C
ENST00000644595.1:c.2754T>C	ENSP00000494121.1:p.Ala918=
ENST00000644629.1:c.2341T>C
ENST00000644841.1:c.*1238T>C	ENSP00000493988.1:n.*1238T>C
ENST00000644959.1:c.2748T>C
ENST00000645553.1:c.2769T>C	ENSP00000494725.1:p.Ala923=
ENST00000646085.1:c.*2232T>C	ENSP00000494509.1:n.*2232T>C
ENST00000646277.1:c.*1355T>C	ENSP00000495289.1:n.*1355T>C
ENST00000646544.1:c.1742T>C
ENST00000646699.1:c.2693T>C
ENST00000646793.1:c.2646T>C	ENSP00000494512.1:p.Ala882=
ENST00000361150.6:c.2757T>C	ENSP00000354781.2:p.Ala919=
ENST00000361510.6:c.2919T>C	ENSP00000355324.2:p.Ala973=
ENST00000361715.6:c.2811T>C	ENSP00000355311.2:p.Ala937=
ENST00000361828.6:c.2808T>C	ENSP00000354429.2:p.Ala936=
ENST00000361908.7:c.2865T>C	ENSP00000354681.3:p.Ala955=
ENST00000392438.7:c.2754T>C	ENSP00000376233.3:p.Ala918=
ENST00000429164.1:c.41T>C
ENST00000445863.1:c.330T>C	ENSP00000398358.1:p.Ala110=
NM_015560.2:c.2754T>C , LRG_337t1:c.2754T>C	NP_056375.2:p.Ala918=
NM_130831.2:c.2646T>C	NP_570844.1:p.Ala882=
NM_130832.2:c.2700T>C	NP_570845.1:p.Ala900=
NM_130833.2:c.2757T>C	NP_570846.1:p.Ala919=
NM_130834.2:c.2808T>C	NP_570847.2:p.Ala936=
NM_130835.2:c.2811T>C	NP_570848.1:p.Ala937=
NM_130836.2:c.2865T>C	NP_570849.2:p.Ala955=
NM_130837.2:c.2919T>C , LRG_337t2:c.2919T>C	NP_570850.2:p.Ala973=
XM_011512863.1:c.2919T>C	XP_011511165.1:p.Ala973=
XM_011512864.1:c.2865T>C	XP_011511166.1:p.Ala955=
XM_011512865.1:c.2808T>C	XP_011511167.1:p.Ala936=
XM_011512866.1:c.2757T>C	XP_011511168.1:p.Ala919=
XM_011512867.1:c.2754T>C	XP_011511169.1:p.Ala918=
XM_011512868.1:c.2646T>C	XP_011511170.1:p.Ala882=
XR_924835.1:n.582+1704A>G
NM_001354663.1:c.2385T>C	NP_001341592.1:p.Ala795=
NM_001354664.1:c.2382T>C	NP_001341593.1:p.Ala794=
XR_001740158.2:n.3173T>C
XR_001740159.2:n.3008T>C
XR_001741072.1:n.600+1704A>G
XR_001741074.1:n.475+3592A>G
XR_924835.2:n.600+1704A>G
NM_001354663.2:c.2385T>C	NP_001341592.1:p.Ala795=
NM_001354664.2:c.2382T>C	NP_001341593.1:p.Ala794=
NM_130831.3:c.2646T>C	NP_570844.1:p.Ala882=
NM_130832.3:c.2700T>C	NP_570845.1:p.Ala900=
NM_130834.3:c.2808T>C	NP_570847.2:p.Ala936=
NM_130836.3:c.2865T>C	NP_570849.2:p.Ala955=
NM_015560.3:c.2754T>C	NP_056375.2:p.Ala918=
NM_130833.3:c.2757T>C	NP_570846.1:p.Ala919=
NM_130835.3:c.2811T>C	NP_570848.1:p.Ala937=
NM_130837.3:c.2919T>C MANE Select	NP_570850.2:p.Ala973=