Canonical Allele Identifier: CA437441990

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193385041T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667252T>A , CM000665.2:g.193667252T>A	GRCh38
NC_000003.11:g.193385041T>A , CM000665.1:g.193385041T>A	GRCh37
NC_000003.10:g.194867735T>A	NCBI36
NG_011605.1:g.79109T>A , LRG_337:g.79109T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2955T>A MANE Select	ENSP00000355324.2:p.Gly985=
ENST00000361828.7:c.2790T>A	ENSP00000354429.3:p.Gly930=
ENST00000361908.8:c.2901T>A	ENSP00000354681.3:p.Gly967=
ENST00000392436.7:c.2790T>A	ENSP00000376231.3:p.Gly930=
ENST00000392437.6:c.2844T>A	ENSP00000376232.2:p.Gly948=
ENST00000642289.1:c.2729T>A
ENST00000642445.1:c.2790T>A	ENSP00000495535.1:p.Gly930=
ENST00000642593.1:c.*1015T>A	ENSP00000494273.1:n.*1015T>A
ENST00000643329.1:c.2472T>A	ENSP00000493673.1:p.Gly824=
ENST00000643737.1:c.*2871T>A	ENSP00000494210.1:n.*2871T>A
ENST00000644595.1:c.2790T>A	ENSP00000494121.1:p.Gly930=
ENST00000644629.1:c.2377T>A
ENST00000644841.1:c.*1274T>A	ENSP00000493988.1:n.*1274T>A
ENST00000644959.1:c.2784T>A
ENST00000645553.1:c.2805T>A	ENSP00000494725.1:p.Gly935=
ENST00000646085.1:c.*2268T>A	ENSP00000494509.1:n.*2268T>A
ENST00000646277.1:c.*1391T>A	ENSP00000495289.1:n.*1391T>A
ENST00000646544.1:c.1778T>A
ENST00000646699.1:c.2729T>A
ENST00000646793.1:c.2682T>A	ENSP00000494512.1:p.Gly894=
ENST00000361150.6:c.2793T>A	ENSP00000354781.2:p.Gly931=
ENST00000361510.6:c.2955T>A	ENSP00000355324.2:p.Gly985=
ENST00000361715.6:c.2847T>A	ENSP00000355311.2:p.Gly949=
ENST00000361828.6:c.2844T>A	ENSP00000354429.2:p.Gly948=
ENST00000361908.7:c.2901T>A	ENSP00000354681.3:p.Gly967=
ENST00000392438.7:c.2790T>A	ENSP00000376233.3:p.Gly930=
ENST00000429164.1:c.77T>A
ENST00000445863.1:c.366T>A	ENSP00000398358.1:p.Gly122=
NM_015560.2:c.2790T>A , LRG_337t1:c.2790T>A	NP_056375.2:p.Gly930=
NM_130831.2:c.2682T>A	NP_570844.1:p.Gly894=
NM_130832.2:c.2736T>A	NP_570845.1:p.Gly912=
NM_130833.2:c.2793T>A	NP_570846.1:p.Gly931=
NM_130834.2:c.2844T>A	NP_570847.2:p.Gly948=
NM_130835.2:c.2847T>A	NP_570848.1:p.Gly949=
NM_130836.2:c.2901T>A	NP_570849.2:p.Gly967=
NM_130837.2:c.2955T>A , LRG_337t2:c.2955T>A	NP_570850.2:p.Gly985=
XM_011512863.1:c.2955T>A	XP_011511165.1:p.Gly985=
XM_011512864.1:c.2901T>A	XP_011511166.1:p.Gly967=
XM_011512865.1:c.2844T>A	XP_011511167.1:p.Gly948=
XM_011512866.1:c.2793T>A	XP_011511168.1:p.Gly931=
XM_011512867.1:c.2790T>A	XP_011511169.1:p.Gly930=
XM_011512868.1:c.2682T>A	XP_011511170.1:p.Gly894=
XR_924835.1:n.582+1668A>T
NM_001354663.1:c.2421T>A	NP_001341592.1:p.Gly807=
NM_001354664.1:c.2418T>A	NP_001341593.1:p.Gly806=
XR_001740158.2:n.3209T>A
XR_001740159.2:n.3044T>A
XR_001741072.1:n.600+1668A>T
XR_001741074.1:n.475+3556A>T
XR_924835.2:n.600+1668A>T
NM_001354663.2:c.2421T>A	NP_001341592.1:p.Gly807=
NM_001354664.2:c.2418T>A	NP_001341593.1:p.Gly806=
NM_130831.3:c.2682T>A	NP_570844.1:p.Gly894=
NM_130832.3:c.2736T>A	NP_570845.1:p.Gly912=
NM_130834.3:c.2844T>A	NP_570847.2:p.Gly948=
NM_130836.3:c.2901T>A	NP_570849.2:p.Gly967=
NM_015560.3:c.2790T>A	NP_056375.2:p.Gly930=
NM_130833.3:c.2793T>A	NP_570846.1:p.Gly931=
NM_130835.3:c.2847T>A	NP_570848.1:p.Gly949=
NM_130837.3:c.2955T>A MANE Select	NP_570850.2:p.Gly985=