Canonical Allele Identifier: CA1430250772

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647170T= , CM000665.2:g.193647170T=	GRCh38
NC_000003.11:g.193364959T= , CM000665.1:g.193364959T=	GRCh37
NC_000003.10:g.194847653T=	NCBI36
NG_011605.1:g.59027T= , LRG_337:g.59027T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1860T= MANE Select	ENSP00000355324.2:p.Asp620=
ENST00000361828.7:c.1695T=	ENSP00000354429.3:p.Asp565=
ENST00000361908.8:c.1806T=	ENSP00000354681.3:p.Asp602=
ENST00000392436.7:c.1695T=	ENSP00000376231.3:p.Asp565=
ENST00000392437.6:c.1749T=	ENSP00000376232.2:p.Asp583=
ENST00000642289.1:c.1634T=
ENST00000642445.1:c.1695T=	ENSP00000495535.1:p.Asp565=
ENST00000642593.1:c.1695T=	ENSP00000494273.1:p.Asp565=
ENST00000643329.1:c.1377T=	ENSP00000493673.1:p.Asp459=
ENST00000643737.1:c.*1776T=	ENSP00000494210.1:n.*1776T=
ENST00000644595.1:c.1695T=	ENSP00000494121.1:p.Asp565=
ENST00000644629.1:c.1282T=
ENST00000644841.1:c.*179T=	ENSP00000493988.1:n.*179T=
ENST00000644959.1:c.1664T=
ENST00000645553.1:c.1710T=	ENSP00000494725.1:p.Asp570=
ENST00000646085.1:c.*1173T=	ENSP00000494509.1:n.*1173T=
ENST00000646277.1:c.*296T=	ENSP00000495289.1:n.*296T=
ENST00000646544.1:c.683T=
ENST00000646699.1:c.1634T=
ENST00000646793.1:c.1587T=	ENSP00000494512.1:p.Asp529=
ENST00000361150.6:c.1698T=	ENSP00000354781.2:p.Asp566=
ENST00000361510.6:c.1860T=	ENSP00000355324.2:p.Asp620=
ENST00000361715.6:c.1752T=	ENSP00000355311.2:p.Asp584=
ENST00000361828.6:c.1749T=	ENSP00000354429.2:p.Asp583=
ENST00000361908.7:c.1806T=	ENSP00000354681.3:p.Asp602=
ENST00000392438.7:c.1695T=	ENSP00000376233.3:p.Asp565=
ENST00000483516.1:n.193T=
NM_015560.2:c.1695T= , LRG_337t1:c.1695T=	NP_056375.2:p.Asp565=
NM_130831.2:c.1587T=	NP_570844.1:p.Asp529=
NM_130832.2:c.1641T=	NP_570845.1:p.Asp547=
NM_130833.2:c.1698T=	NP_570846.1:p.Asp566=
NM_130834.2:c.1749T=	NP_570847.2:p.Asp583=
NM_130835.2:c.1752T=	NP_570848.1:p.Asp584=
NM_130836.2:c.1806T=	NP_570849.2:p.Asp602=
NM_130837.2:c.1860T= , LRG_337t2:c.1860T=	NP_570850.2:p.Asp620=
XM_011512863.1:c.1860T=	XP_011511165.1:p.Asp620=
XM_011512864.1:c.1806T=	XP_011511166.1:p.Asp602=
XM_011512865.1:c.1749T=	XP_011511167.1:p.Asp583=
XM_011512866.1:c.1698T=	XP_011511168.1:p.Asp566=
XM_011512867.1:c.1695T=	XP_011511169.1:p.Asp565=
XM_011512868.1:c.1587T=	XP_011511170.1:p.Asp529=
XM_011512869.1:c.1860T=	XP_011511171.1:p.Asp620=
NM_001354663.1:c.1326T=	NP_001341592.1:p.Asp442=
NM_001354664.1:c.1323T=	NP_001341593.1:p.Asp441=
XR_001740158.2:n.2089T=
XR_001740159.2:n.1924T=
NM_001354663.2:c.1326T=	NP_001341592.1:p.Asp442=
NM_001354664.2:c.1323T=	NP_001341593.1:p.Asp441=
NM_130831.3:c.1587T=	NP_570844.1:p.Asp529=
NM_130832.3:c.1641T=	NP_570845.1:p.Asp547=
NM_130834.3:c.1749T=	NP_570847.2:p.Asp583=
NM_130836.3:c.1806T=	NP_570849.2:p.Asp602=
NM_015560.3:c.1695T=	NP_056375.2:p.Asp565=
NM_130833.3:c.1698T=	NP_570846.1:p.Asp566=
NM_130835.3:c.1752T=	NP_570848.1:p.Asp584=
NM_130837.3:c.1860T= MANE Select	NP_570850.2:p.Asp620=