|
ENST00000404366.7:c.669A>C
(ACY1)
|
ENSP00000384296.2:p.Val223=
|
|
|
ENST00000464587.2:n.355A>C
(ACY1)
|
|
|
|
ENST00000486081.6:c.*515A>C
(ABHD14A-ACY1)
|
ENSP00000420395.1:n.*515A>C
|
|
|
ENST00000635785.1:c.887+97A>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000635797.1:c.564A>C
(ACY1)
|
ENSP00000490007.1:p.Val188=
|
|
|
ENST00000635937.1:c.*926A>C
(ABHD14A-ACY1)
|
ENSP00000489887.1:n.*926A>C
|
|
|
ENST00000635941.1:c.943A>C
(ACY1)
|
ENSP00000490309.1:n.943A>C
|
|
|
ENST00000635946.1:c.*1026A>C
(ABHD14A-ACY1)
|
ENSP00000490284.1:n.*1026A>C
|
|
|
ENST00000635951.1:c.*941A>C
(ABHD14A-ACY1)
|
ENSP00000490649.1:n.*941A>C
|
|
|
ENST00000635952.1:c.756A>C
(ABHD14A-ACY1)
|
ENSP00000490434.1:p.Val252=
|
|
|
ENST00000636085.1:c.*600A>C
(ABHD14A-ACY1)
|
ENSP00000489981.1:n.*600A>C
|
|
|
ENST00000636089.1:c.*1006A>C
(ABHD14A-ACY1)
|
ENSP00000490657.1:n.*1006A>C
|
|
|
ENST00000636358.2:c.669A>C
(ACY1)
MANE Select
|
ENSP00000490149.1:p.Val223=
|
|
|
ENST00000636490.1:c.*1006A>C
(ABHD14A-ACY1)
|
ENSP00000490575.1:n.*1006A>C
|
|
|
ENST00000636556.1:c.*614A>C
(ACY1)
|
ENSP00000490500.1:n.*614A>C
|
|
|
ENST00000636646.1:c.*906A>C
(ABHD14A-ACY1)
|
ENSP00000490688.1:n.*906A>C
|
|
|
ENST00000636660.1:c.632A>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000636718.1:c.*1281A>C
(ABHD14A-ACY1)
|
ENSP00000490429.1:n.*1281A>C
|
|
|
ENST00000636826.1:c.*600A>C
(ABHD14A-ACY1)
|
ENSP00000489721.1:n.*600A>C
|
|
|
ENST00000636880.1:c.*379A>C
(ACY1)
|
ENSP00000489947.1:n.*379A>C
|
|
|
ENST00000636942.1:c.*550A>C
(ABHD14A-ACY1)
|
ENSP00000490848.1:n.*550A>C
|
|
|
ENST00000637025.1:c.*790A>C
(ABHD14A-ACY1)
|
ENSP00000490236.1:n.*790A>C
|
|
|
ENST00000637034.1:n.102A>C
(ACY1)
|
|
|
|
ENST00000637130.1:c.*890A>C
(ABHD14A-ACY1)
|
ENSP00000490887.1:n.*890A>C
|
|
|
ENST00000637199.1:n.142A>C
(ACY1)
|
|
|
|
ENST00000637222.1:c.669A>C
(ABHD14A-ACY1)
|
ENSP00000490353.1:p.Val223=
|
|
|
ENST00000637349.1:c.*220+97A>C
(ACY1)
|
ENSP00000489688.1:n.*220+97A>C
|
|
|
ENST00000637460.1:n.703A>C
(ACY1)
|
|
|
|
ENST00000637512.1:c.919A>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637563.1:c.*1417A>C
(ABHD14A-ACY1)
|
ENSP00000490319.1:n.*1417A>C
|
|
|
ENST00000637696.1:c.*1026A>C
(ABHD14A-ACY1)
|
ENSP00000490554.1:n.*1026A>C
|
|
|
ENST00000637730.1:c.1202A>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637778.1:c.*1417A>C
(ABHD14A-ACY1)
|
ENSP00000490052.1:n.*1417A>C
|
|
|
ENST00000637978.1:c.1238A>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000638096.1:n.560A>C
(ACY1)
|
|
|
|
ENST00000638136.1:n.1085A>C
(ACY1)
|
|
|
|
ENST00000404366.6:c.669A>C
(ACY1)
|
ENSP00000384296.2:p.Val223=
|
|
|
ENST00000463721.5:c.*580A>C
(ABHD14A-ACY1)
|
ENSP00000417688.1:n.*580A>C
|
|
|
ENST00000463937.1:c.972A>C
(ABHD14A-ACY1)
|
ENSP00000420487.1:p.Val324=
|
|
|
ENST00000464587.1:n.355A>C
(ACY1)
|
|
|
|
ENST00000465121.5:n.742A>C
(ACY1)
|
|
|
|
ENST00000476351.5:c.564A>C
(ACY1)
|
ENSP00000417056.1:p.Val188=
|
|
|
ENST00000476854.5:c.657+97A>C
(ACY1)
|
ENSP00000419262.1:n.657+97A>C
|
|
|
ENST00000491318.5:c.584-151A>C
(ACY1)
|
ENSP00000418683.1:n.584-151A>C
|
|
|
ENST00000494103.5:c.453A>C
(ACY1)
|
ENSP00000417618.1:p.Val151=
|
|
|
NM_000666.2:c.669A>C
(ACY1)
|
NP_000657.1:p.Val223=
|
|
|
NM_001198895.1:c.669A>C
(ACY1)
|
NP_001185824.1:p.Val223=
|
|
|
NM_001198896.1:c.453A>C
(ACY1)
|
NP_001185825.1:p.Val151=
|
|
|
NM_001198897.1:c.657+97A>C
(ACY1)
|
NP_001185826.1:n.657+97A>C
|
|
|
NM_001198898.1:c.564A>C
(ACY1)
|
NP_001185827.1:p.Val188=
|
|
|
NM_001316331.1:c.939A>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Val313=
|
|
|
NM_000666.3:c.669A>C
(ACY1)
MANE Select
|
NP_000657.1:p.Val223=
|
|
|
NM_001198895.2:c.669A>C
(ACY1)
|
NP_001185824.1:p.Val223=
|
|
|
NM_001198896.2:c.453A>C
(ACY1)
|
NP_001185825.1:p.Val151=
|
|
|
NM_001198897.2:c.657+97A>C
(ACY1)
|
NP_001185826.1:n.657+97A>C
|
|
|
NM_001198898.2:c.564A>C
(ACY1)
|
NP_001185827.1:p.Val188=
|
|
|
NM_001316331.2:c.939A>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Val313=
|
|
