|
ENST00000404366.7:c.689G>T
(ACY1)
|
ENSP00000384296.2:p.Arg230Leu
|
|
|
ENST00000464587.2:n.375G>T
(ACY1)
|
|
|
|
ENST00000486081.6:c.*535G>T
(ABHD14A-ACY1)
|
ENSP00000420395.1:n.*535G>T
|
|
|
ENST00000635785.1:c.887+117G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000635797.1:c.584G>T
(ACY1)
|
ENSP00000490007.1:p.Arg195Leu
|
|
|
ENST00000635937.1:c.*946G>T
(ABHD14A-ACY1)
|
ENSP00000489887.1:n.*946G>T
|
|
|
ENST00000635941.1:c.963G>T
(ACY1)
|
ENSP00000490309.1:n.963G>T
|
|
|
ENST00000635946.1:c.*1046G>T
(ABHD14A-ACY1)
|
ENSP00000490284.1:n.*1046G>T
|
|
|
ENST00000635951.1:c.*961G>T
(ABHD14A-ACY1)
|
ENSP00000490649.1:n.*961G>T
|
|
|
ENST00000635952.1:c.776G>T
(ABHD14A-ACY1)
|
ENSP00000490434.1:p.Arg259Leu
|
|
|
ENST00000636089.1:c.*1026G>T
(ABHD14A-ACY1)
|
ENSP00000490657.1:n.*1026G>T
|
|
|
ENST00000636358.2:c.689G>T
(ACY1)
MANE Select
|
ENSP00000490149.1:p.Arg230Leu
|
|
|
ENST00000636490.1:c.*1026G>T
(ABHD14A-ACY1)
|
ENSP00000490575.1:n.*1026G>T
|
|
|
ENST00000636556.1:c.*634G>T
(ACY1)
|
ENSP00000490500.1:n.*634G>T
|
|
|
ENST00000636646.1:c.*926G>T
(ABHD14A-ACY1)
|
ENSP00000490688.1:n.*926G>T
|
|
|
ENST00000636660.1:c.652G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000636718.1:c.*1301G>T
(ABHD14A-ACY1)
|
ENSP00000490429.1:n.*1301G>T
|
|
|
ENST00000636826.1:c.*620G>T
(ABHD14A-ACY1)
|
ENSP00000489721.1:n.*620G>T
|
|
|
ENST00000636880.1:c.*399G>T
(ACY1)
|
ENSP00000489947.1:n.*399G>T
|
|
|
ENST00000636942.1:c.*570G>T
(ABHD14A-ACY1)
|
ENSP00000490848.1:n.*570G>T
|
|
|
ENST00000637025.1:c.*810G>T
(ABHD14A-ACY1)
|
ENSP00000490236.1:n.*810G>T
|
|
|
ENST00000637034.1:n.122G>T
(ACY1)
|
|
|
|
ENST00000637130.1:c.*910G>T
(ABHD14A-ACY1)
|
ENSP00000490887.1:n.*910G>T
|
|
|
ENST00000637199.1:n.162G>T
(ACY1)
|
|
|
|
ENST00000637222.1:c.689G>T
(ABHD14A-ACY1)
|
ENSP00000490353.1:p.Arg230Leu
|
|
|
ENST00000637349.1:c.*220+117G>T
(ACY1)
|
ENSP00000489688.1:n.*220+117G>T
|
|
|
ENST00000637460.1:n.723G>T
(ACY1)
|
|
|
|
ENST00000637512.1:c.939G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000637563.1:c.*1437G>T
(ABHD14A-ACY1)
|
ENSP00000490319.1:n.*1437G>T
|
|
|
ENST00000637696.1:c.*1046G>T
(ABHD14A-ACY1)
|
ENSP00000490554.1:n.*1046G>T
|
|
|
ENST00000637730.1:c.1222G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000637778.1:c.*1437G>T
(ABHD14A-ACY1)
|
ENSP00000490052.1:n.*1437G>T
|
|
|
ENST00000637978.1:c.1258G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000638096.1:n.580G>T
(ACY1)
|
|
|
|
ENST00000638136.1:n.1105G>T
(ACY1)
|
|
|
|
ENST00000404366.6:c.689G>T
(ACY1)
|
ENSP00000384296.2:p.Arg230Leu
|
|
|
ENST00000463721.5:c.*600G>T
(ABHD14A-ACY1)
|
ENSP00000417688.1:n.*600G>T
|
|
|
ENST00000463937.1:c.992G>T
(ABHD14A-ACY1)
|
ENSP00000420487.1:p.Arg331Leu
|
|
|
ENST00000464587.1:n.375G>T
(ACY1)
|
|
|
|
ENST00000465121.5:n.762G>T
(ACY1)
|
|
|
|
ENST00000476351.5:c.584G>T
(ACY1)
|
ENSP00000417056.1:p.Arg195Leu
|
|
|
ENST00000476854.5:c.657+117G>T
(ACY1)
|
ENSP00000419262.1:n.657+117G>T
|
|
|
ENST00000491318.5:c.584-131G>T
(ACY1)
|
ENSP00000418683.1:n.584-131G>T
|
|
|
ENST00000494103.5:c.473G>T
(ACY1)
|
ENSP00000417618.1:p.Arg158Leu
|
|
|
NM_000666.2:c.689G>T
(ACY1)
|
NP_000657.1:p.Arg230Leu
|
|
|
NM_001198895.1:c.689G>T
(ACY1)
|
NP_001185824.1:p.Arg230Leu
|
|
|
NM_001198896.1:c.473G>T
(ACY1)
|
NP_001185825.1:p.Arg158Leu
|
|
|
NM_001198897.1:c.657+117G>T
(ACY1)
|
NP_001185826.1:n.657+117G>T
|
|
|
NM_001198898.1:c.584G>T
(ACY1)
|
NP_001185827.1:p.Arg195Leu
|
|
|
NM_001316331.1:c.959G>T
(ABHD14A-ACY1)
|
NP_001303260.1:p.Arg320Leu
|
|
|
NM_000666.3:c.689G>T
(ACY1)
MANE Select
|
NP_000657.1:p.Arg230Leu
|
|
|
NM_001198895.2:c.689G>T
(ACY1)
|
NP_001185824.1:p.Arg230Leu
|
|
|
NM_001198896.2:c.473G>T
(ACY1)
|
NP_001185825.1:p.Arg158Leu
|
|
|
NM_001198897.2:c.657+117G>T
(ACY1)
|
NP_001185826.1:n.657+117G>T
|
|
|
NM_001198898.2:c.584G>T
(ACY1)
|
NP_001185827.1:p.Arg195Leu
|
|
|
NM_001316331.2:c.959G>T
(ABHD14A-ACY1)
|
NP_001303260.1:p.Arg320Leu
|
|
