|
ENST00000404366.7:c.705G>T
(ACY1)
|
ENSP00000384296.2:p.Gln235His
|
|
|
ENST00000464587.2:n.391G>T
(ACY1)
|
|
|
|
ENST00000635785.1:c.887+133G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000635797.1:c.600G>T
(ACY1)
|
ENSP00000490007.1:p.Gln200His
|
|
|
ENST00000635937.1:c.*962G>T
(ABHD14A-ACY1)
|
ENSP00000489887.1:n.*962G>T
|
|
|
ENST00000635941.1:c.979G>T
(ACY1)
|
ENSP00000490309.1:n.979G>T
|
|
|
ENST00000635946.1:c.*1062G>T
(ABHD14A-ACY1)
|
ENSP00000490284.1:n.*1062G>T
|
|
|
ENST00000635951.1:c.*977G>T
(ABHD14A-ACY1)
|
ENSP00000490649.1:n.*977G>T
|
|
|
ENST00000635952.1:c.792G>T
(ABHD14A-ACY1)
|
ENSP00000490434.1:p.Gln264His
|
|
|
ENST00000636089.1:c.*1042G>T
(ABHD14A-ACY1)
|
ENSP00000490657.1:n.*1042G>T
|
|
|
ENST00000636358.2:c.705G>T
(ACY1)
MANE Select
|
ENSP00000490149.1:p.Gln235His
|
|
|
ENST00000636490.1:c.*1042G>T
(ABHD14A-ACY1)
|
ENSP00000490575.1:n.*1042G>T
|
|
|
ENST00000636556.1:c.*650G>T
(ACY1)
|
ENSP00000490500.1:n.*650G>T
|
|
|
ENST00000636646.1:c.*942G>T
(ABHD14A-ACY1)
|
ENSP00000490688.1:n.*942G>T
|
|
|
ENST00000636660.1:c.668G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000636718.1:c.*1317G>T
(ABHD14A-ACY1)
|
ENSP00000490429.1:n.*1317G>T
|
|
|
ENST00000636826.1:c.*636G>T
(ABHD14A-ACY1)
|
ENSP00000489721.1:n.*636G>T
|
|
|
ENST00000636880.1:c.*415G>T
(ACY1)
|
ENSP00000489947.1:n.*415G>T
|
|
|
ENST00000636942.1:c.*586G>T
(ABHD14A-ACY1)
|
ENSP00000490848.1:n.*586G>T
|
|
|
ENST00000637025.1:c.*826G>T
(ABHD14A-ACY1)
|
ENSP00000490236.1:n.*826G>T
|
|
|
ENST00000637034.1:n.138G>T
(ACY1)
|
|
|
|
ENST00000637130.1:c.*926G>T
(ABHD14A-ACY1)
|
ENSP00000490887.1:n.*926G>T
|
|
|
ENST00000637199.1:n.178G>T
(ACY1)
|
|
|
|
ENST00000637222.1:c.705G>T
(ABHD14A-ACY1)
|
ENSP00000490353.1:p.Gln235His
|
|
|
ENST00000637349.1:c.*220+133G>T
(ACY1)
|
ENSP00000489688.1:n.*220+133G>T
|
|
|
ENST00000637460.1:n.739G>T
(ACY1)
|
|
|
|
ENST00000637512.1:c.955G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000637563.1:c.*1453G>T
(ABHD14A-ACY1)
|
ENSP00000490319.1:n.*1453G>T
|
|
|
ENST00000637696.1:c.*1062G>T
(ABHD14A-ACY1)
|
ENSP00000490554.1:n.*1062G>T
|
|
|
ENST00000637730.1:c.1238G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000637778.1:c.*1453G>T
(ABHD14A-ACY1)
|
ENSP00000490052.1:n.*1453G>T
|
|
|
ENST00000637978.1:c.1274G>T
(ABHD14A-ACY1)
|
|
|
|
ENST00000638096.1:n.596G>T
(ACY1)
|
|
|
|
ENST00000638136.1:n.1121G>T
(ACY1)
|
|
|
|
ENST00000404366.6:c.705G>T
(ACY1)
|
ENSP00000384296.2:p.Gln235His
|
|
|
ENST00000463721.5:c.*616G>T
(ABHD14A-ACY1)
|
ENSP00000417688.1:n.*616G>T
|
|
|
ENST00000463937.1:c.1008G>T
(ABHD14A-ACY1)
|
ENSP00000420487.1:p.Gln336His
|
|
|
ENST00000464587.1:n.391G>T
(ACY1)
|
|
|
|
ENST00000465121.5:n.778G>T
(ACY1)
|
|
|
|
ENST00000476351.5:c.600G>T
(ACY1)
|
ENSP00000417056.1:p.Gln200His
|
|
|
ENST00000476854.5:c.657+133G>T
(ACY1)
|
ENSP00000419262.1:n.657+133G>T
|
|
|
ENST00000491318.5:c.584-115G>T
(ACY1)
|
ENSP00000418683.1:n.584-115G>T
|
|
|
ENST00000494103.5:c.489G>T
(ACY1)
|
ENSP00000417618.1:p.Gln163His
|
|
|
NM_000666.2:c.705G>T
(ACY1)
|
NP_000657.1:p.Gln235His
|
|
|
NM_001198895.1:c.705G>T
(ACY1)
|
NP_001185824.1:p.Gln235His
|
|
|
NM_001198896.1:c.489G>T
(ACY1)
|
NP_001185825.1:p.Gln163His
|
|
|
NM_001198897.1:c.657+133G>T
(ACY1)
|
NP_001185826.1:n.657+133G>T
|
|
|
NM_001198898.1:c.600G>T
(ACY1)
|
NP_001185827.1:p.Gln200His
|
|
|
NM_001316331.1:c.975G>T
(ABHD14A-ACY1)
|
NP_001303260.1:p.Gln325His
|
|
|
NM_000666.3:c.705G>T
(ACY1)
MANE Select
|
NP_000657.1:p.Gln235His
|
|
|
NM_001198895.2:c.705G>T
(ACY1)
|
NP_001185824.1:p.Gln235His
|
|
|
NM_001198896.2:c.489G>T
(ACY1)
|
NP_001185825.1:p.Gln163His
|
|
|
NM_001198897.2:c.657+133G>T
(ACY1)
|
NP_001185826.1:n.657+133G>T
|
|
|
NM_001198898.2:c.600G>T
(ACY1)
|
NP_001185827.1:p.Gln200His
|
|
|
NM_001316331.2:c.975G>T
(ABHD14A-ACY1)
|
NP_001303260.1:p.Gln325His
|
|
