Canonical Allele Identifier: CA548824339

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1550939
• ClinVar RCV Id: RCV002192077
• dbSNP Id: rs1355408736
• gnomAD v2: 3-193377257-A-T
• gnomAD v3: 3-193659468-A-T
• gnomAD v4: 3-193659468-A-T
• MyVariant Identifiers: chr3:g.193377257A>T (hg19) ; chr3:g.193659468A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659468A>T , CM000665.2:g.193659468A>T	GRCh38
NC_000003.11:g.193377257A>T , CM000665.1:g.193377257A>T	GRCh37
NC_000003.10:g.194859951A>T	NCBI36
NG_011605.1:g.71325A>T , LRG_337:g.71325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2441-14A>T MANE Select	ENSP00000355324.2:n.2441-14A>T
ENST00000361828.7:c.2276-14A>T	ENSP00000354429.3:n.2276-14A>T
ENST00000361908.8:c.2387-14A>T	ENSP00000354681.3:n.2387-14A>T
ENST00000392436.7:c.2276-14A>T	ENSP00000376231.3:n.2276-14A>T
ENST00000392437.6:c.2330-14A>T	ENSP00000376232.2:n.2330-14A>T
ENST00000642289.1:c.2215-14A>T
ENST00000642445.1:c.2276-14A>T	ENSP00000495535.1:n.2276-14A>T
ENST00000642593.1:c.*501-14A>T	ENSP00000494273.1:n.*501-14A>T
ENST00000643329.1:c.1958-14A>T	ENSP00000493673.1:n.1958-14A>T
ENST00000643737.1:c.*2357-14A>T	ENSP00000494210.1:n.*2357-14A>T
ENST00000644595.1:c.2276-14A>T	ENSP00000494121.1:n.2276-14A>T
ENST00000644629.1:c.1863-14A>T
ENST00000644841.1:c.*760-14A>T	ENSP00000493988.1:n.*760-14A>T
ENST00000644959.1:c.2270-14A>T
ENST00000645553.1:c.2291-14A>T	ENSP00000494725.1:n.2291-14A>T
ENST00000646085.1:c.*1754-14A>T	ENSP00000494509.1:n.*1754-14A>T
ENST00000646277.1:c.*877-14A>T	ENSP00000495289.1:n.*877-14A>T
ENST00000646544.1:c.1264-14A>T
ENST00000646699.1:c.2215-14A>T
ENST00000646793.1:c.2168-14A>T	ENSP00000494512.1:n.2168-14A>T
ENST00000361150.6:c.2279-14A>T	ENSP00000354781.2:n.2279-14A>T
ENST00000361510.6:c.2441-14A>T	ENSP00000355324.2:n.2441-14A>T
ENST00000361715.6:c.2333-14A>T	ENSP00000355311.2:n.2333-14A>T
ENST00000361828.6:c.2330-14A>T	ENSP00000354429.2:n.2330-14A>T
ENST00000361908.7:c.2387-14A>T	ENSP00000354681.3:n.2387-14A>T
ENST00000392438.7:c.2276-14A>T	ENSP00000376233.3:n.2276-14A>T
ENST00000482865.1:n.535-14A>T
NM_015560.2:c.2276-14A>T , LRG_337t1:c.2276-14A>T	NP_056375.2:n.2276-14A>T
NM_130831.2:c.2168-14A>T	NP_570844.1:n.2168-14A>T
NM_130832.2:c.2222-14A>T	NP_570845.1:n.2222-14A>T
NM_130833.2:c.2279-14A>T	NP_570846.1:n.2279-14A>T
NM_130834.2:c.2330-14A>T	NP_570847.2:n.2330-14A>T
NM_130835.2:c.2333-14A>T	NP_570848.1:n.2333-14A>T
NM_130836.2:c.2387-14A>T	NP_570849.2:n.2387-14A>T
NM_130837.2:c.2441-14A>T , LRG_337t2:c.2441-14A>T	NP_570850.2:n.2441-14A>T
XM_011512863.1:c.2441-14A>T	XP_011511165.1:n.2441-14A>T
XM_011512864.1:c.2387-14A>T	XP_011511166.1:n.2387-14A>T
XM_011512865.1:c.2330-14A>T	XP_011511167.1:n.2330-14A>T
XM_011512866.1:c.2279-14A>T	XP_011511168.1:n.2279-14A>T
XM_011512867.1:c.2276-14A>T	XP_011511169.1:n.2276-14A>T
XM_011512868.1:c.2168-14A>T	XP_011511170.1:n.2168-14A>T
XR_924835.1:n.582+9452T>A
NM_001354663.1:c.1907-14A>T	NP_001341592.1:n.1907-14A>T
NM_001354664.1:c.1904-14A>T	NP_001341593.1:n.1904-14A>T
XR_001740158.2:n.2695-14A>T
XR_001740159.2:n.2530-14A>T
XR_001741074.1:n.475+11340T>A
XR_924835.2:n.600+9452T>A
NM_001354663.2:c.1907-14A>T	NP_001341592.1:n.1907-14A>T
NM_001354664.2:c.1904-14A>T	NP_001341593.1:n.1904-14A>T
NM_130831.3:c.2168-14A>T	NP_570844.1:n.2168-14A>T
NM_130832.3:c.2222-14A>T	NP_570845.1:n.2222-14A>T
NM_130834.3:c.2330-14A>T	NP_570847.2:n.2330-14A>T
NM_130836.3:c.2387-14A>T	NP_570849.2:n.2387-14A>T
NM_015560.3:c.2276-14A>T	NP_056375.2:n.2276-14A>T
NM_130833.3:c.2279-14A>T	NP_570846.1:n.2279-14A>T
NM_130835.3:c.2333-14A>T	NP_570848.1:n.2333-14A>T
NM_130837.3:c.2441-14A>T MANE Select	NP_570850.2:n.2441-14A>T