Canonical Allele Identifier: CA1364648983
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

dbSNP Id: rs1577728687
gnomAD v4: 3-51986830-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51986830T>C , CM000665.2:g.51986830T>C GRCh38
NC_000003.11:g.52020846T>C , CM000665.1:g.52020846T>C GRCh37
NC_000003.10:g.51995886T>C NCBI36
NG_012036.1:g.8284T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.584-158T>C (ACY1) ENSP00000384296.2:n.584-158T>C
ENST00000464587.2:n.270-158T>C (ACY1)
ENST00000486081.6:c.*430-158T>C (ABHD14A-ACY1) ENSP00000420395.1:n.*430-158T>C
ENST00000635785.1:c.814-158T>C (ABHD14A-ACY1)
ENST00000635797.1:c.479-158T>C (ACY1) ENSP00000490007.1:n.479-158T>C
ENST00000635937.1:c.*598T>C (ABHD14A-ACY1) ENSP00000489887.1:n.*598T>C
ENST00000635941.1:c.615T>C (ACY1) ENSP00000490309.1:n.615T>C
ENST00000635946.1:c.*698T>C (ABHD14A-ACY1) ENSP00000490284.1:n.*698T>C
ENST00000635951.1:c.*698T>C (ABHD14A-ACY1) ENSP00000490649.1:n.*698T>C
ENST00000635952.1:c.671-158T>C (ABHD14A-ACY1) ENSP00000490434.1:n.671-158T>C
ENST00000636047.1:n.561-115T>C (ACY1)
ENST00000636085.1:c.*430-158T>C (ABHD14A-ACY1) ENSP00000489981.1:n.*430-158T>C
ENST00000636089.1:c.*763T>C (ABHD14A-ACY1) ENSP00000490657.1:n.*763T>C
ENST00000636358.2:c.584-158T>C (ACY1) MANE Select ENSP00000490149.1:n.584-158T>C
ENST00000636490.1:c.*763T>C (ABHD14A-ACY1) ENSP00000490575.1:n.*763T>C
ENST00000636556.1:c.*529-158T>C (ACY1) ENSP00000490500.1:n.*529-158T>C
ENST00000636646.1:c.*663T>C (ABHD14A-ACY1) ENSP00000490688.1:n.*663T>C
ENST00000636660.1:c.462-158T>C (ABHD14A-ACY1)
ENST00000636718.1:c.*953T>C (ABHD14A-ACY1) ENSP00000490429.1:n.*953T>C
ENST00000636826.1:c.*430-158T>C (ABHD14A-ACY1) ENSP00000489721.1:n.*430-158T>C
ENST00000636880.1:c.*294-158T>C (ACY1) ENSP00000489947.1:n.*294-158T>C
ENST00000636942.1:c.*430-123T>C (ABHD14A-ACY1) ENSP00000490848.1:n.*430-123T>C
ENST00000637025.1:c.*462T>C (ABHD14A-ACY1) ENSP00000490236.1:n.*462T>C
ENST00000637130.1:c.*562T>C (ABHD14A-ACY1) ENSP00000490887.1:n.*562T>C
ENST00000637209.1:c.*294-158T>C (ACY1) ENSP00000490708.1:n.*294-158T>C
ENST00000637222.1:c.584-158T>C (ABHD14A-ACY1) ENSP00000490353.1:n.584-158T>C
ENST00000637251.1:n.1499T>C (ACY1)
ENST00000637349.1:c.*147-158T>C (ACY1) ENSP00000489688.1:n.*147-158T>C
ENST00000637460.1:n.575-115T>C (ACY1)
ENST00000637461.1:c.431-158T>C (ABHD14A-ACY1)
ENST00000637512.1:c.749-158T>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1089T>C (ABHD14A-ACY1) ENSP00000490319.1:n.*1089T>C
ENST00000637696.1:c.*698T>C (ABHD14A-ACY1) ENSP00000490554.1:n.*698T>C
ENST00000637730.1:c.959T>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1089T>C (ABHD14A-ACY1) ENSP00000490052.1:n.*1089T>C
ENST00000637978.1:c.1153-158T>C (ABHD14A-ACY1)
ENST00000638096.1:n.232T>C (ACY1)
ENST00000638136.1:n.915-158T>C (ACY1)
ENST00000404366.6:c.584-158T>C (ACY1) ENSP00000384296.2:n.584-158T>C
ENST00000463721.5:c.*495-158T>C (ABHD14A-ACY1) ENSP00000417688.1:n.*495-158T>C
ENST00000463937.1:c.887-158T>C (ABHD14A-ACY1) ENSP00000420487.1:n.887-158T>C
ENST00000464587.1:n.270-158T>C (ACY1)
ENST00000465121.5:n.657-158T>C (ACY1)
ENST00000469863.1:c.611-158T>C (ACY1) ENSP00000419830.1:n.611-158T>C
ENST00000476351.5:c.479-158T>C (ACY1) ENSP00000417056.1:n.479-158T>C
ENST00000476854.5:c.584-158T>C (ACY1) ENSP00000419262.1:n.584-158T>C
ENST00000491318.5:c.583+169T>C (ACY1) ENSP00000418683.1:n.583+169T>C
ENST00000494103.5:c.368-158T>C (ACY1) ENSP00000417618.1:n.368-158T>C
ENST00000497128.1:n.855T>C (ABHD14A-ACY1)
NM_000666.2:c.584-158T>C (ACY1) NP_000657.1:n.584-158T>C
NM_001198895.1:c.584-158T>C (ACY1) NP_001185824.1:n.584-158T>C
NM_001198896.1:c.368-158T>C (ACY1) NP_001185825.1:n.368-158T>C
NM_001198897.1:c.584-158T>C (ACY1) NP_001185826.1:n.584-158T>C
NM_001198898.1:c.479-158T>C (ACY1) NP_001185827.1:n.479-158T>C
NM_001316331.1:c.854-158T>C (ABHD14A-ACY1) NP_001303260.1:n.854-158T>C
NM_000666.3:c.584-158T>C (ACY1) MANE Select NP_000657.1:n.584-158T>C
NM_001198895.2:c.584-158T>C (ACY1) NP_001185824.1:n.584-158T>C
NM_001198896.2:c.368-158T>C (ACY1) NP_001185825.1:n.368-158T>C
NM_001198897.2:c.584-158T>C (ACY1) NP_001185826.1:n.584-158T>C
NM_001198898.2:c.479-158T>C (ACY1) NP_001185827.1:n.479-158T>C
NM_001316331.2:c.854-158T>C (ABHD14A-ACY1) NP_001303260.1:n.854-158T>C