|
ENST00000404366.7:c.696G>C
(ACY1)
|
ENSP00000384296.2:p.Lys232Asn
|
|
|
ENST00000464587.2:n.382G>C
(ACY1)
|
|
|
|
ENST00000486081.6:c.*542G>C
(ABHD14A-ACY1)
|
ENSP00000420395.1:n.*542G>C
|
|
|
ENST00000635785.1:c.887+124G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000635797.1:c.591G>C
(ACY1)
|
ENSP00000490007.1:p.Lys197Asn
|
|
|
ENST00000635937.1:c.*953G>C
(ABHD14A-ACY1)
|
ENSP00000489887.1:n.*953G>C
|
|
|
ENST00000635941.1:c.970G>C
(ACY1)
|
ENSP00000490309.1:n.970G>C
|
|
|
ENST00000635946.1:c.*1053G>C
(ABHD14A-ACY1)
|
ENSP00000490284.1:n.*1053G>C
|
|
|
ENST00000635951.1:c.*968G>C
(ABHD14A-ACY1)
|
ENSP00000490649.1:n.*968G>C
|
|
|
ENST00000635952.1:c.783G>C
(ABHD14A-ACY1)
|
ENSP00000490434.1:p.Lys261Asn
|
|
|
ENST00000636089.1:c.*1033G>C
(ABHD14A-ACY1)
|
ENSP00000490657.1:n.*1033G>C
|
|
|
ENST00000636358.2:c.696G>C
(ACY1)
MANE Select
|
ENSP00000490149.1:p.Lys232Asn
|
|
|
ENST00000636490.1:c.*1033G>C
(ABHD14A-ACY1)
|
ENSP00000490575.1:n.*1033G>C
|
|
|
ENST00000636556.1:c.*641G>C
(ACY1)
|
ENSP00000490500.1:n.*641G>C
|
|
|
ENST00000636646.1:c.*933G>C
(ABHD14A-ACY1)
|
ENSP00000490688.1:n.*933G>C
|
|
|
ENST00000636660.1:c.659G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000636718.1:c.*1308G>C
(ABHD14A-ACY1)
|
ENSP00000490429.1:n.*1308G>C
|
|
|
ENST00000636826.1:c.*627G>C
(ABHD14A-ACY1)
|
ENSP00000489721.1:n.*627G>C
|
|
|
ENST00000636880.1:c.*406G>C
(ACY1)
|
ENSP00000489947.1:n.*406G>C
|
|
|
ENST00000636942.1:c.*577G>C
(ABHD14A-ACY1)
|
ENSP00000490848.1:n.*577G>C
|
|
|
ENST00000637025.1:c.*817G>C
(ABHD14A-ACY1)
|
ENSP00000490236.1:n.*817G>C
|
|
|
ENST00000637034.1:n.129G>C
(ACY1)
|
|
|
|
ENST00000637130.1:c.*917G>C
(ABHD14A-ACY1)
|
ENSP00000490887.1:n.*917G>C
|
|
|
ENST00000637199.1:n.169G>C
(ACY1)
|
|
|
|
ENST00000637222.1:c.696G>C
(ABHD14A-ACY1)
|
ENSP00000490353.1:p.Lys232Asn
|
|
|
ENST00000637349.1:c.*220+124G>C
(ACY1)
|
ENSP00000489688.1:n.*220+124G>C
|
|
|
ENST00000637460.1:n.730G>C
(ACY1)
|
|
|
|
ENST00000637512.1:c.946G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637563.1:c.*1444G>C
(ABHD14A-ACY1)
|
ENSP00000490319.1:n.*1444G>C
|
|
|
ENST00000637696.1:c.*1053G>C
(ABHD14A-ACY1)
|
ENSP00000490554.1:n.*1053G>C
|
|
|
ENST00000637730.1:c.1229G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000637778.1:c.*1444G>C
(ABHD14A-ACY1)
|
ENSP00000490052.1:n.*1444G>C
|
|
|
ENST00000637978.1:c.1265G>C
(ABHD14A-ACY1)
|
|
|
|
ENST00000638096.1:n.587G>C
(ACY1)
|
|
|
|
ENST00000638136.1:n.1112G>C
(ACY1)
|
|
|
|
ENST00000404366.6:c.696G>C
(ACY1)
|
ENSP00000384296.2:p.Lys232Asn
|
|
|
ENST00000463721.5:c.*607G>C
(ABHD14A-ACY1)
|
ENSP00000417688.1:n.*607G>C
|
|
|
ENST00000463937.1:c.999G>C
(ABHD14A-ACY1)
|
ENSP00000420487.1:p.Lys333Asn
|
|
|
ENST00000464587.1:n.382G>C
(ACY1)
|
|
|
|
ENST00000465121.5:n.769G>C
(ACY1)
|
|
|
|
ENST00000476351.5:c.591G>C
(ACY1)
|
ENSP00000417056.1:p.Lys197Asn
|
|
|
ENST00000476854.5:c.657+124G>C
(ACY1)
|
ENSP00000419262.1:n.657+124G>C
|
|
|
ENST00000491318.5:c.584-124G>C
(ACY1)
|
ENSP00000418683.1:n.584-124G>C
|
|
|
ENST00000494103.5:c.480G>C
(ACY1)
|
ENSP00000417618.1:p.Lys160Asn
|
|
|
NM_000666.2:c.696G>C
(ACY1)
|
NP_000657.1:p.Lys232Asn
|
|
|
NM_001198895.1:c.696G>C
(ACY1)
|
NP_001185824.1:p.Lys232Asn
|
|
|
NM_001198896.1:c.480G>C
(ACY1)
|
NP_001185825.1:p.Lys160Asn
|
|
|
NM_001198897.1:c.657+124G>C
(ACY1)
|
NP_001185826.1:n.657+124G>C
|
|
|
NM_001198898.1:c.591G>C
(ACY1)
|
NP_001185827.1:p.Lys197Asn
|
|
|
NM_001316331.1:c.966G>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Lys322Asn
|
|
|
NM_000666.3:c.696G>C
(ACY1)
MANE Select
|
NP_000657.1:p.Lys232Asn
|
|
|
NM_001198895.2:c.696G>C
(ACY1)
|
NP_001185824.1:p.Lys232Asn
|
|
|
NM_001198896.2:c.480G>C
(ACY1)
|
NP_001185825.1:p.Lys160Asn
|
|
|
NM_001198897.2:c.657+124G>C
(ACY1)
|
NP_001185826.1:n.657+124G>C
|
|
|
NM_001198898.2:c.591G>C
(ACY1)
|
NP_001185827.1:p.Lys197Asn
|
|
|
NM_001316331.2:c.966G>C
(ABHD14A-ACY1)
|
NP_001303260.1:p.Lys322Asn
|
|
