|
ENST00000404366.7:c.702G>C
(ACY1)
|
ENSP00000384296.2:p.Trp234Cys
|
|
|
ENST00000464587.2:n.388G>C
(ACY1)
|
|
|
|
ENST00000635785.1:c.887+130G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000635797.1:c.597G>C
(ACY1)
|
ENSP00000490007.1:p.Trp199Cys
|
|
|
ENST00000635937.1:c.*959G>C
(ABHD14A-ACY1)
|
ENSP00000489887.1:n.*959G>C
|
|
|
ENST00000635941.1:c.976G>C
(ACY1)
|
ENSP00000490309.1:n.976G>C
|
|
|
ENST00000635946.1:c.*1059G>C
(ABHD14A-ACY1)
|
ENSP00000490284.1:n.*1059G>C
|
|
|
ENST00000635951.1:c.*974G>C
(ABHD14A-ACY1)
|
ENSP00000490649.1:n.*974G>C
|
|
|
ENST00000635952.1:c.789G>C
(ABHD14A-ACY1)
|
ENSP00000490434.1:p.Trp263Cys
|
|
|
ENST00000636089.1:c.*1039G>C
(ABHD14A-ACY1)
|
ENSP00000490657.1:n.*1039G>C
|
|
|
ENST00000636358.2:c.702G>C
(ACY1)
MANE Select
|
ENSP00000490149.1:p.Trp234Cys
|
|
|
ENST00000636490.1:c.*1039G>C
(ABHD14A-ACY1)
|
ENSP00000490575.1:n.*1039G>C
|
|
|
ENST00000636556.1:c.*647G>C
(ACY1)
|
ENSP00000490500.1:n.*647G>C
|
|
|
ENST00000636646.1:c.*939G>C
(ABHD14A-ACY1)
|
ENSP00000490688.1:n.*939G>C
|
|
|
ENST00000636660.1:c.665G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000636718.1:c.*1314G>C
(ABHD14A-ACY1)
|
ENSP00000490429.1:n.*1314G>C
|
|
|
ENST00000636826.1:c.*633G>C
(ABHD14A-ACY1)
|
ENSP00000489721.1:n.*633G>C
|
|
|
ENST00000636880.1:c.*412G>C
(ACY1)
|
ENSP00000489947.1:n.*412G>C
|
|
|
ENST00000636942.1:c.*583G>C
(ABHD14A-ACY1)
|
ENSP00000490848.1:n.*583G>C
|
|
|
ENST00000637025.1:c.*823G>C
(ABHD14A-ACY1)
|
ENSP00000490236.1:n.*823G>C
|
|
|
ENST00000637034.1:n.135G>C
(ACY1)
|
|
|
|
ENST00000637130.1:c.*923G>C
(ABHD14A-ACY1)
|
ENSP00000490887.1:n.*923G>C
|
|
|
ENST00000637199.1:n.175G>C
(ACY1)
|
|
|
|
ENST00000637222.1:c.702G>C
(ABHD14A-ACY1)
|
ENSP00000490353.1:p.Trp234Cys
|
|
|
ENST00000637349.1:c.*220+130G>C
(ACY1)
|
ENSP00000489688.1:n.*220+130G>C
|
|
|
ENST00000637460.1:n.736G>C
(ACY1)
|
|
|
|
ENST00000637512.1:c.952G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637563.1:c.*1450G>C
(ABHD14A-ACY1)
|
ENSP00000490319.1:n.*1450G>C
|
|
|
ENST00000637696.1:c.*1059G>C
(ABHD14A-ACY1)
|
ENSP00000490554.1:n.*1059G>C
|
|
|
ENST00000637730.1:c.1235G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637778.1:c.*1450G>C
(ABHD14A-ACY1)
|
ENSP00000490052.1:n.*1450G>C
|
|
|
ENST00000637978.1:c.1271G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000638096.1:n.593G>C
(ACY1)
|
|
|
|
ENST00000638136.1:n.1118G>C
(ACY1)
|
|
|
|
ENST00000404366.6:c.702G>C
(ACY1)
|
ENSP00000384296.2:p.Trp234Cys
|
|
|
ENST00000463721.5:c.*613G>C
(ABHD14A-ACY1)
|
ENSP00000417688.1:n.*613G>C
|
|
|
ENST00000463937.1:c.1005G>C
(ABHD14A-ACY1)
|
ENSP00000420487.1:p.Trp335Cys
|
|
|
ENST00000464587.1:n.388G>C
(ACY1)
|
|
|
|
ENST00000465121.5:n.775G>C
(ACY1)
|
|
|
|
ENST00000476351.5:c.597G>C
(ACY1)
|
ENSP00000417056.1:p.Trp199Cys
|
|
|
ENST00000476854.5:c.657+130G>C
(ACY1)
|
ENSP00000419262.1:n.657+130G>C
|
|
|
ENST00000491318.5:c.584-118G>C
(ACY1)
|
ENSP00000418683.1:n.584-118G>C
|
|
|
ENST00000494103.5:c.486G>C
(ACY1)
|
ENSP00000417618.1:p.Trp162Cys
|
|
|
NM_000666.2:c.702G>C
(ACY1)
|
NP_000657.1:p.Trp234Cys
|
|
|
NM_001198895.1:c.702G>C
(ACY1)
|
NP_001185824.1:p.Trp234Cys
|
|
|
NM_001198896.1:c.486G>C
(ACY1)
|
NP_001185825.1:p.Trp162Cys
|
|
|
NM_001198897.1:c.657+130G>C
(ACY1)
|
NP_001185826.1:n.657+130G>C
|
|
|
NM_001198898.1:c.597G>C
(ACY1)
|
NP_001185827.1:p.Trp199Cys
|
|
|
NM_001316331.1:c.972G>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Trp324Cys
|
|
|
NM_000666.3:c.702G>C
(ACY1)
MANE Select
|
NP_000657.1:p.Trp234Cys
|
|
|
NM_001198895.2:c.702G>C
(ACY1)
|
NP_001185824.1:p.Trp234Cys
|
|
|
NM_001198896.2:c.486G>C
(ACY1)
|
NP_001185825.1:p.Trp162Cys
|
|
|
NM_001198897.2:c.657+130G>C
(ACY1)
|
NP_001185826.1:n.657+130G>C
|
|
|
NM_001198898.2:c.597G>C
(ACY1)
|
NP_001185827.1:p.Trp199Cys
|
|
|
NM_001316331.2:c.972G>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Trp324Cys
|
|
