Canonical Allele Identifier: CA355793259

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380723C>A (hg19) ; chr3:g.193662934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662934C>A , CM000665.2:g.193662934C>A	GRCh38
NC_000003.11:g.193380723C>A , CM000665.1:g.193380723C>A	GRCh37
NC_000003.10:g.194863417C>A	NCBI36
NG_011605.1:g.74791C>A , LRG_337:g.74791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2633C>A MANE Select	ENSP00000355324.2:p.Ser878Tyr
ENST00000361828.7:c.2468C>A	ENSP00000354429.3:p.Ser823Tyr
ENST00000361908.8:c.2579C>A	ENSP00000354681.3:p.Ser860Tyr
ENST00000392436.7:c.2468C>A	ENSP00000376231.3:p.Ser823Tyr
ENST00000392437.6:c.2522C>A	ENSP00000376232.2:p.Ser841Tyr
ENST00000642289.1:c.2407C>A
ENST00000642445.1:c.2468C>A	ENSP00000495535.1:p.Ser823Tyr
ENST00000642593.1:c.*693C>A	ENSP00000494273.1:n.*693C>A
ENST00000643329.1:c.2150C>A	ENSP00000493673.1:p.Ser717Tyr
ENST00000643737.1:c.*2549C>A	ENSP00000494210.1:n.*2549C>A
ENST00000644595.1:c.2468C>A	ENSP00000494121.1:p.Ser823Tyr
ENST00000644629.1:c.2055C>A
ENST00000644841.1:c.*952C>A	ENSP00000493988.1:n.*952C>A
ENST00000644959.1:c.2462C>A
ENST00000645553.1:c.2483C>A	ENSP00000494725.1:p.Ser828Tyr
ENST00000646085.1:c.*1946C>A	ENSP00000494509.1:n.*1946C>A
ENST00000646277.1:c.*1069C>A	ENSP00000495289.1:n.*1069C>A
ENST00000646544.1:c.1456C>A
ENST00000646699.1:c.2407C>A
ENST00000646793.1:c.2360C>A	ENSP00000494512.1:p.Ser787Tyr
ENST00000361150.6:c.2471C>A	ENSP00000354781.2:p.Ser824Tyr
ENST00000361510.6:c.2633C>A	ENSP00000355324.2:p.Ser878Tyr
ENST00000361715.6:c.2525C>A	ENSP00000355311.2:p.Ser842Tyr
ENST00000361828.6:c.2522C>A	ENSP00000354429.2:p.Ser841Tyr
ENST00000361908.7:c.2579C>A	ENSP00000354681.3:p.Ser860Tyr
ENST00000392438.7:c.2468C>A	ENSP00000376233.3:p.Ser823Tyr
ENST00000445863.1:c.44C>A	ENSP00000398358.1:p.Ser15Tyr
NM_015560.2:c.2468C>A , LRG_337t1:c.2468C>A	NP_056375.2:p.Ser823Tyr
NM_130831.2:c.2360C>A	NP_570844.1:p.Ser787Tyr
NM_130832.2:c.2414C>A	NP_570845.1:p.Ser805Tyr
NM_130833.2:c.2471C>A	NP_570846.1:p.Ser824Tyr
NM_130834.2:c.2522C>A	NP_570847.2:p.Ser841Tyr
NM_130835.2:c.2525C>A	NP_570848.1:p.Ser842Tyr
NM_130836.2:c.2579C>A	NP_570849.2:p.Ser860Tyr
NM_130837.2:c.2633C>A , LRG_337t2:c.2633C>A	NP_570850.2:p.Ser878Tyr
XM_011512863.1:c.2633C>A	XP_011511165.1:p.Ser878Tyr
XM_011512864.1:c.2579C>A	XP_011511166.1:p.Ser860Tyr
XM_011512865.1:c.2522C>A	XP_011511167.1:p.Ser841Tyr
XM_011512866.1:c.2471C>A	XP_011511168.1:p.Ser824Tyr
XM_011512867.1:c.2468C>A	XP_011511169.1:p.Ser823Tyr
XM_011512868.1:c.2360C>A	XP_011511170.1:p.Ser787Tyr
XR_924835.1:n.582+5986G>T
NM_001354663.1:c.2099C>A	NP_001341592.1:p.Ser700Tyr
NM_001354664.1:c.2096C>A	NP_001341593.1:p.Ser699Tyr
XR_001740158.2:n.2887C>A
XR_001740159.2:n.2722C>A
XR_001741072.1:n.601-2849G>T
XR_001741074.1:n.475+7874G>T
XR_924835.2:n.600+5986G>T
NM_001354663.2:c.2099C>A	NP_001341592.1:p.Ser700Tyr
NM_001354664.2:c.2096C>A	NP_001341593.1:p.Ser699Tyr
NM_130831.3:c.2360C>A	NP_570844.1:p.Ser787Tyr
NM_130832.3:c.2414C>A	NP_570845.1:p.Ser805Tyr
NM_130834.3:c.2522C>A	NP_570847.2:p.Ser841Tyr
NM_130836.3:c.2579C>A	NP_570849.2:p.Ser860Tyr
NM_015560.3:c.2468C>A	NP_056375.2:p.Ser823Tyr
NM_130833.3:c.2471C>A	NP_570846.1:p.Ser824Tyr
NM_130835.3:c.2525C>A	NP_570848.1:p.Ser842Tyr
NM_130837.3:c.2633C>A MANE Select	NP_570850.2:p.Ser878Tyr