Canonical Allele Identifier: CA353091079
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987185G>T , CM000665.2:g.51987185G>T GRCh38
NC_000003.11:g.52021201G>T , CM000665.1:g.52021201G>T GRCh37
NC_000003.10:g.51996241G>T NCBI36
NG_012036.1:g.8639G>T

Transcript Alleles

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