Canonical Allele Identifier: CA355790578

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364958A>C (hg19) ; chr3:g.193647169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647169A>C , CM000665.2:g.193647169A>C	GRCh38
NC_000003.11:g.193364958A>C , CM000665.1:g.193364958A>C	GRCh37
NC_000003.10:g.194847652A>C	NCBI36
NG_011605.1:g.59026A>C , LRG_337:g.59026A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1859A>C MANE Select	ENSP00000355324.2:p.Asp620Ala
ENST00000361828.7:c.1694A>C	ENSP00000354429.3:p.Asp565Ala
ENST00000361908.8:c.1805A>C	ENSP00000354681.3:p.Asp602Ala
ENST00000392436.7:c.1694A>C	ENSP00000376231.3:p.Asp565Ala
ENST00000392437.6:c.1748A>C	ENSP00000376232.2:p.Asp583Ala
ENST00000642289.1:c.1633A>C
ENST00000642445.1:c.1694A>C	ENSP00000495535.1:p.Asp565Ala
ENST00000642593.1:c.1694A>C	ENSP00000494273.1:p.Asp565Ala
ENST00000643329.1:c.1376A>C	ENSP00000493673.1:p.Asp459Ala
ENST00000643737.1:c.*1775A>C	ENSP00000494210.1:n.*1775A>C
ENST00000644595.1:c.1694A>C	ENSP00000494121.1:p.Asp565Ala
ENST00000644629.1:c.1281A>C
ENST00000644841.1:c.*178A>C	ENSP00000493988.1:n.*178A>C
ENST00000644959.1:c.1663A>C
ENST00000645553.1:c.1709A>C	ENSP00000494725.1:p.Asp570Ala
ENST00000646085.1:c.*1172A>C	ENSP00000494509.1:n.*1172A>C
ENST00000646277.1:c.*295A>C	ENSP00000495289.1:n.*295A>C
ENST00000646544.1:c.682A>C
ENST00000646699.1:c.1633A>C
ENST00000646793.1:c.1586A>C	ENSP00000494512.1:p.Asp529Ala
ENST00000361150.6:c.1697A>C	ENSP00000354781.2:p.Asp566Ala
ENST00000361510.6:c.1859A>C	ENSP00000355324.2:p.Asp620Ala
ENST00000361715.6:c.1751A>C	ENSP00000355311.2:p.Asp584Ala
ENST00000361828.6:c.1748A>C	ENSP00000354429.2:p.Asp583Ala
ENST00000361908.7:c.1805A>C	ENSP00000354681.3:p.Asp602Ala
ENST00000392438.7:c.1694A>C	ENSP00000376233.3:p.Asp565Ala
ENST00000483516.1:n.192A>C
NM_015560.2:c.1694A>C , LRG_337t1:c.1694A>C	NP_056375.2:p.Asp565Ala
NM_130831.2:c.1586A>C	NP_570844.1:p.Asp529Ala
NM_130832.2:c.1640A>C	NP_570845.1:p.Asp547Ala
NM_130833.2:c.1697A>C	NP_570846.1:p.Asp566Ala
NM_130834.2:c.1748A>C	NP_570847.2:p.Asp583Ala
NM_130835.2:c.1751A>C	NP_570848.1:p.Asp584Ala
NM_130836.2:c.1805A>C	NP_570849.2:p.Asp602Ala
NM_130837.2:c.1859A>C , LRG_337t2:c.1859A>C	NP_570850.2:p.Asp620Ala
XM_011512863.1:c.1859A>C	XP_011511165.1:p.Asp620Ala
XM_011512864.1:c.1805A>C	XP_011511166.1:p.Asp602Ala
XM_011512865.1:c.1748A>C	XP_011511167.1:p.Asp583Ala
XM_011512866.1:c.1697A>C	XP_011511168.1:p.Asp566Ala
XM_011512867.1:c.1694A>C	XP_011511169.1:p.Asp565Ala
XM_011512868.1:c.1586A>C	XP_011511170.1:p.Asp529Ala
XM_011512869.1:c.1859A>C	XP_011511171.1:p.Asp620Ala
NM_001354663.1:c.1325A>C	NP_001341592.1:p.Asp442Ala
NM_001354664.1:c.1322A>C	NP_001341593.1:p.Asp441Ala
XR_001740158.2:n.2088A>C
XR_001740159.2:n.1923A>C
NM_001354663.2:c.1325A>C	NP_001341592.1:p.Asp442Ala
NM_001354664.2:c.1322A>C	NP_001341593.1:p.Asp441Ala
NM_130831.3:c.1586A>C	NP_570844.1:p.Asp529Ala
NM_130832.3:c.1640A>C	NP_570845.1:p.Asp547Ala
NM_130834.3:c.1748A>C	NP_570847.2:p.Asp583Ala
NM_130836.3:c.1805A>C	NP_570849.2:p.Asp602Ala
NM_015560.3:c.1694A>C	NP_056375.2:p.Asp565Ala
NM_130833.3:c.1697A>C	NP_570846.1:p.Asp566Ala
NM_130835.3:c.1751A>C	NP_570848.1:p.Asp584Ala
NM_130837.3:c.1859A>C MANE Select	NP_570850.2:p.Asp620Ala