|
ENST00000404366.7:c.667G>C
(ACY1)
|
ENSP00000384296.2:p.Val223Leu
|
|
|
ENST00000464587.2:n.353G>C
(ACY1)
|
|
|
|
ENST00000486081.6:c.*513G>C
(ABHD14A-ACY1)
|
ENSP00000420395.1:n.*513G>C
|
|
|
ENST00000635785.1:c.887+95G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000635797.1:c.562G>C
(ACY1)
|
ENSP00000490007.1:p.Val188Leu
|
|
|
ENST00000635937.1:c.*924G>C
(ABHD14A-ACY1)
|
ENSP00000489887.1:n.*924G>C
|
|
|
ENST00000635941.1:c.941G>C
(ACY1)
|
ENSP00000490309.1:n.941G>C
|
|
|
ENST00000635946.1:c.*1024G>C
(ABHD14A-ACY1)
|
ENSP00000490284.1:n.*1024G>C
|
|
|
ENST00000635951.1:c.*939G>C
(ABHD14A-ACY1)
|
ENSP00000490649.1:n.*939G>C
|
|
|
ENST00000635952.1:c.754G>C
(ABHD14A-ACY1)
|
ENSP00000490434.1:p.Val252Leu
|
|
|
ENST00000636085.1:c.*598G>C
(ABHD14A-ACY1)
|
ENSP00000489981.1:n.*598G>C
|
|
|
ENST00000636089.1:c.*1004G>C
(ABHD14A-ACY1)
|
ENSP00000490657.1:n.*1004G>C
|
|
|
ENST00000636358.2:c.667G>C
(ACY1)
MANE Select
|
ENSP00000490149.1:p.Val223Leu
|
|
|
ENST00000636490.1:c.*1004G>C
(ABHD14A-ACY1)
|
ENSP00000490575.1:n.*1004G>C
|
|
|
ENST00000636556.1:c.*612G>C
(ACY1)
|
ENSP00000490500.1:n.*612G>C
|
|
|
ENST00000636646.1:c.*904G>C
(ABHD14A-ACY1)
|
ENSP00000490688.1:n.*904G>C
|
|
|
ENST00000636660.1:c.630G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000636718.1:c.*1279G>C
(ABHD14A-ACY1)
|
ENSP00000490429.1:n.*1279G>C
|
|
|
ENST00000636826.1:c.*598G>C
(ABHD14A-ACY1)
|
ENSP00000489721.1:n.*598G>C
|
|
|
ENST00000636880.1:c.*377G>C
(ACY1)
|
ENSP00000489947.1:n.*377G>C
|
|
|
ENST00000636942.1:c.*548G>C
(ABHD14A-ACY1)
|
ENSP00000490848.1:n.*548G>C
|
|
|
ENST00000637025.1:c.*788G>C
(ABHD14A-ACY1)
|
ENSP00000490236.1:n.*788G>C
|
|
|
ENST00000637034.1:n.100G>C
(ACY1)
|
|
|
|
ENST00000637130.1:c.*888G>C
(ABHD14A-ACY1)
|
ENSP00000490887.1:n.*888G>C
|
|
|
ENST00000637199.1:n.140G>C
(ACY1)
|
|
|
|
ENST00000637222.1:c.667G>C
(ABHD14A-ACY1)
|
ENSP00000490353.1:p.Val223Leu
|
|
|
ENST00000637349.1:c.*220+95G>C
(ACY1)
|
ENSP00000489688.1:n.*220+95G>C
|
|
|
ENST00000637460.1:n.701G>C
(ACY1)
|
|
|
|
ENST00000637512.1:c.917G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637563.1:c.*1415G>C
(ABHD14A-ACY1)
|
ENSP00000490319.1:n.*1415G>C
|
|
|
ENST00000637696.1:c.*1024G>C
(ABHD14A-ACY1)
|
ENSP00000490554.1:n.*1024G>C
|
|
|
ENST00000637730.1:c.1200G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637778.1:c.*1415G>C
(ABHD14A-ACY1)
|
ENSP00000490052.1:n.*1415G>C
|
|
|
ENST00000637978.1:c.1236G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000638096.1:n.558G>C
(ACY1)
|
|
|
|
ENST00000638136.1:n.1083G>C
(ACY1)
|
|
|
|
ENST00000404366.6:c.667G>C
(ACY1)
|
ENSP00000384296.2:p.Val223Leu
|
|
|
ENST00000463721.5:c.*578G>C
(ABHD14A-ACY1)
|
ENSP00000417688.1:n.*578G>C
|
|
|
ENST00000463937.1:c.970G>C
(ABHD14A-ACY1)
|
ENSP00000420487.1:p.Val324Leu
|
|
|
ENST00000464587.1:n.353G>C
(ACY1)
|
|
|
|
ENST00000465121.5:n.740G>C
(ACY1)
|
|
|
|
ENST00000476351.5:c.562G>C
(ACY1)
|
ENSP00000417056.1:p.Val188Leu
|
|
|
ENST00000476854.5:c.657+95G>C
(ACY1)
|
ENSP00000419262.1:n.657+95G>C
|
|
|
ENST00000491318.5:c.584-153G>C
(ACY1)
|
ENSP00000418683.1:n.584-153G>C
|
|
|
ENST00000494103.5:c.451G>C
(ACY1)
|
ENSP00000417618.1:p.Val151Leu
|
|
|
NM_000666.2:c.667G>C
(ACY1)
|
NP_000657.1:p.Val223Leu
|
|
|
NM_001198895.1:c.667G>C
(ACY1)
|
NP_001185824.1:p.Val223Leu
|
|
|
NM_001198896.1:c.451G>C
(ACY1)
|
NP_001185825.1:p.Val151Leu
|
|
|
NM_001198897.1:c.657+95G>C
(ACY1)
|
NP_001185826.1:n.657+95G>C
|
|
|
NM_001198898.1:c.562G>C
(ACY1)
|
NP_001185827.1:p.Val188Leu
|
|
|
NM_001316331.1:c.937G>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Val313Leu
|
|
|
NM_000666.3:c.667G>C
(ACY1)
MANE Select
|
NP_000657.1:p.Val223Leu
|
|
|
NM_001198895.2:c.667G>C
(ACY1)
|
NP_001185824.1:p.Val223Leu
|
|
|
NM_001198896.2:c.451G>C
(ACY1)
|
NP_001185825.1:p.Val151Leu
|
|
|
NM_001198897.2:c.657+95G>C
(ACY1)
|
NP_001185826.1:n.657+95G>C
|
|
|
NM_001198898.2:c.562G>C
(ACY1)
|
NP_001185827.1:p.Val188Leu
|
|
|
NM_001316331.2:c.937G>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Val313Leu
|
|
