Canonical Allele Identifier: CA437437526

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364905A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647116A>C , CM000665.2:g.193647116A>C	GRCh38
NC_000003.11:g.193364905A>C , CM000665.1:g.193364905A>C	GRCh37
NC_000003.10:g.194847599A>C	NCBI36
NG_011605.1:g.58973A>C , LRG_337:g.58973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1806A>C MANE Select	ENSP00000355324.2:p.Ala602=
ENST00000361828.7:c.1641A>C	ENSP00000354429.3:p.Ala547=
ENST00000361908.8:c.1752A>C	ENSP00000354681.3:p.Ala584=
ENST00000392436.7:c.1641A>C	ENSP00000376231.3:p.Ala547=
ENST00000392437.6:c.1695A>C	ENSP00000376232.2:p.Ala565=
ENST00000642289.1:c.1580A>C
ENST00000642445.1:c.1641A>C	ENSP00000495535.1:p.Ala547=
ENST00000642593.1:c.1641A>C	ENSP00000494273.1:p.Ala547=
ENST00000643329.1:c.1323A>C	ENSP00000493673.1:p.Ala441=
ENST00000643737.1:c.*1722A>C	ENSP00000494210.1:n.*1722A>C
ENST00000644595.1:c.1641A>C	ENSP00000494121.1:p.Ala547=
ENST00000644629.1:c.1228A>C
ENST00000644841.1:c.*125A>C	ENSP00000493988.1:n.*125A>C
ENST00000644959.1:c.1610A>C
ENST00000645553.1:c.1656A>C	ENSP00000494725.1:p.Ala552=
ENST00000646085.1:c.*1119A>C	ENSP00000494509.1:n.*1119A>C
ENST00000646277.1:c.*242A>C	ENSP00000495289.1:n.*242A>C
ENST00000646544.1:c.629A>C
ENST00000646699.1:c.1580A>C
ENST00000646793.1:c.1533A>C	ENSP00000494512.1:p.Ala511=
ENST00000361150.6:c.1644A>C	ENSP00000354781.2:p.Ala548=
ENST00000361510.6:c.1806A>C	ENSP00000355324.2:p.Ala602=
ENST00000361715.6:c.1698A>C	ENSP00000355311.2:p.Ala566=
ENST00000361828.6:c.1695A>C	ENSP00000354429.2:p.Ala565=
ENST00000361908.7:c.1752A>C	ENSP00000354681.3:p.Ala584=
ENST00000392438.7:c.1641A>C	ENSP00000376233.3:p.Ala547=
ENST00000483516.1:n.139A>C
NM_015560.2:c.1641A>C , LRG_337t1:c.1641A>C	NP_056375.2:p.Ala547=
NM_130831.2:c.1533A>C	NP_570844.1:p.Ala511=
NM_130832.2:c.1587A>C	NP_570845.1:p.Ala529=
NM_130833.2:c.1644A>C	NP_570846.1:p.Ala548=
NM_130834.2:c.1695A>C	NP_570847.2:p.Ala565=
NM_130835.2:c.1698A>C	NP_570848.1:p.Ala566=
NM_130836.2:c.1752A>C	NP_570849.2:p.Ala584=
NM_130837.2:c.1806A>C , LRG_337t2:c.1806A>C	NP_570850.2:p.Ala602=
XM_011512863.1:c.1806A>C	XP_011511165.1:p.Ala602=
XM_011512864.1:c.1752A>C	XP_011511166.1:p.Ala584=
XM_011512865.1:c.1695A>C	XP_011511167.1:p.Ala565=
XM_011512866.1:c.1644A>C	XP_011511168.1:p.Ala548=
XM_011512867.1:c.1641A>C	XP_011511169.1:p.Ala547=
XM_011512868.1:c.1533A>C	XP_011511170.1:p.Ala511=
XM_011512869.1:c.1806A>C	XP_011511171.1:p.Ala602=
NM_001354663.1:c.1272A>C	NP_001341592.1:p.Ala424=
NM_001354664.1:c.1269A>C	NP_001341593.1:p.Ala423=
XR_001740158.2:n.2035A>C
XR_001740159.2:n.1870A>C
NM_001354663.2:c.1272A>C	NP_001341592.1:p.Ala424=
NM_001354664.2:c.1269A>C	NP_001341593.1:p.Ala423=
NM_130831.3:c.1533A>C	NP_570844.1:p.Ala511=
NM_130832.3:c.1587A>C	NP_570845.1:p.Ala529=
NM_130834.3:c.1695A>C	NP_570847.2:p.Ala565=
NM_130836.3:c.1752A>C	NP_570849.2:p.Ala584=
NM_015560.3:c.1641A>C	NP_056375.2:p.Ala547=
NM_130833.3:c.1644A>C	NP_570846.1:p.Ala548=
NM_130835.3:c.1698A>C	NP_570848.1:p.Ala566=
NM_130837.3:c.1806A>C MANE Select	NP_570850.2:p.Ala602=