Canonical Allele Identifier: CA90547766

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193593196C>A , CM000665.2:g.193593196C>A	GRCh38
NC_000003.11:g.193310985C>A , CM000665.1:g.193310985C>A	GRCh37
NC_000003.10:g.194793679C>A	NCBI36
NG_011605.1:g.5053C>A , LRG_337:g.5053C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001354663.1:c.-612C>A	NP_001341592.1:n.-612C>A
NM_001354664.1:c.-612C>A	NP_001341593.1:n.-612C>A
NM_015560.2:c.-182C>A , LRG_337t1:c.-182C>A	NP_056375.2:n.-182C>A
NM_130831.2:c.-182C>A	NP_570844.1:n.-182C>A
NM_130832.2:c.-182C>A	NP_570845.1:n.-182C>A
NM_130833.2:c.-182C>A	NP_570846.1:n.-182C>A
NM_130834.2:c.-182C>A	NP_570847.2:n.-182C>A
NM_130835.2:c.-182C>A	NP_570848.1:n.-182C>A
NM_130836.2:c.-182C>A	NP_570849.2:n.-182C>A
NM_130837.2:c.-182C>A , LRG_337t2:c.-182C>A	NP_570850.2:n.-182C>A
ENST00000361150.6:c.-182C>A	ENSP00000354781.2:n.-182C>A
ENST00000361510.6:c.-182C>A	ENSP00000355324.2:n.-182C>A
ENST00000361715.6:c.-182C>A	ENSP00000355311.2:n.-182C>A
ENST00000361828.6:c.-182C>A	ENSP00000354429.2:n.-182C>A
ENST00000361828.7:c.-182C>A	ENSP00000354429.3:n.-182C>A
ENST00000361908.7:c.-182C>A	ENSP00000354681.3:n.-182C>A
ENST00000361908.8:c.-182C>A	ENSP00000354681.3:n.-182C>A
ENST00000392438.7:c.-182C>A	ENSP00000376233.3:n.-182C>A
XR_001740158.2:n.48C>A
XR_001740159.2:n.48C>A