Canonical Allele Identifier: CA2665956704
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

gnomAD v4: 3-51986937-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51986937G>T , CM000665.2:g.51986937G>T GRCh38
NC_000003.11:g.52020953G>T , CM000665.1:g.52020953G>T GRCh37
NC_000003.10:g.51995993G>T NCBI36
NG_012036.1:g.8391G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.584-51G>T (ACY1) ENSP00000384296.2:n.584-51G>T
ENST00000464587.2:n.270-51G>T (ACY1)
ENST00000486081.6:c.*430-51G>T (ABHD14A-ACY1) ENSP00000420395.1:n.*430-51G>T
ENST00000635785.1:c.814-51G>T (ABHD14A-ACY1)
ENST00000635797.1:c.479-51G>T (ACY1) ENSP00000490007.1:n.479-51G>T
ENST00000635937.1:c.*705G>T (ABHD14A-ACY1) ENSP00000489887.1:n.*705G>T
ENST00000635941.1:c.722G>T (ACY1) ENSP00000490309.1:n.722G>T
ENST00000635946.1:c.*805G>T (ABHD14A-ACY1) ENSP00000490284.1:n.*805G>T
ENST00000635951.1:c.*805G>T (ABHD14A-ACY1) ENSP00000490649.1:n.*805G>T
ENST00000635952.1:c.671-51G>T (ABHD14A-ACY1) ENSP00000490434.1:n.671-51G>T
ENST00000636047.1:n.561-8G>T (ACY1)
ENST00000636085.1:c.*430-51G>T (ABHD14A-ACY1) ENSP00000489981.1:n.*430-51G>T
ENST00000636089.1:c.*870G>T (ABHD14A-ACY1) ENSP00000490657.1:n.*870G>T
ENST00000636358.2:c.584-51G>T (ACY1) MANE Select ENSP00000490149.1:n.584-51G>T
ENST00000636490.1:c.*870G>T (ABHD14A-ACY1) ENSP00000490575.1:n.*870G>T
ENST00000636556.1:c.*529-51G>T (ACY1) ENSP00000490500.1:n.*529-51G>T
ENST00000636646.1:c.*770G>T (ABHD14A-ACY1) ENSP00000490688.1:n.*770G>T
ENST00000636660.1:c.462-51G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1060G>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1060G>T
ENST00000636826.1:c.*430-51G>T (ABHD14A-ACY1) ENSP00000489721.1:n.*430-51G>T
ENST00000636880.1:c.*294-51G>T (ACY1) ENSP00000489947.1:n.*294-51G>T
ENST00000636942.1:c.*430-16G>T (ABHD14A-ACY1) ENSP00000490848.1:n.*430-16G>T
ENST00000637025.1:c.*569G>T (ABHD14A-ACY1) ENSP00000490236.1:n.*569G>T
ENST00000637130.1:c.*669G>T (ABHD14A-ACY1) ENSP00000490887.1:n.*669G>T
ENST00000637199.1:n.6G>T (ACY1)
ENST00000637209.1:c.*294-51G>T (ACY1) ENSP00000490708.1:n.*294-51G>T
ENST00000637222.1:c.584-51G>T (ABHD14A-ACY1) ENSP00000490353.1:n.584-51G>T
ENST00000637251.1:n.1606G>T (ACY1)
ENST00000637349.1:c.*147-51G>T (ACY1) ENSP00000489688.1:n.*147-51G>T
ENST00000637460.1:n.575-8G>T (ACY1)
ENST00000637461.1:c.431-51G>T (ABHD14A-ACY1)
ENST00000637512.1:c.749-51G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1196G>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1196G>T
ENST00000637696.1:c.*805G>T (ABHD14A-ACY1) ENSP00000490554.1:n.*805G>T
ENST00000637730.1:c.1066G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1196G>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1196G>T
ENST00000637978.1:c.1153-51G>T (ABHD14A-ACY1)
ENST00000638096.1:n.339G>T (ACY1)
ENST00000638136.1:n.915-51G>T (ACY1)
ENST00000404366.6:c.584-51G>T (ACY1) ENSP00000384296.2:n.584-51G>T
ENST00000463721.5:c.*495-51G>T (ABHD14A-ACY1) ENSP00000417688.1:n.*495-51G>T
ENST00000463937.1:c.887-51G>T (ABHD14A-ACY1) ENSP00000420487.1:n.887-51G>T
ENST00000464587.1:n.270-51G>T (ACY1)
ENST00000465121.5:n.657-51G>T (ACY1)
ENST00000469863.1:c.611-51G>T (ACY1) ENSP00000419830.1:n.611-51G>T
ENST00000476351.5:c.479-51G>T (ACY1) ENSP00000417056.1:n.479-51G>T
ENST00000476854.5:c.584-51G>T (ACY1) ENSP00000419262.1:n.584-51G>T
ENST00000491318.5:c.583+276G>T (ACY1) ENSP00000418683.1:n.583+276G>T
ENST00000494103.5:c.368-51G>T (ACY1) ENSP00000417618.1:n.368-51G>T
NM_000666.2:c.584-51G>T (ACY1) NP_000657.1:n.584-51G>T
NM_001198895.1:c.584-51G>T (ACY1) NP_001185824.1:n.584-51G>T
NM_001198896.1:c.368-51G>T (ACY1) NP_001185825.1:n.368-51G>T
NM_001198897.1:c.584-51G>T (ACY1) NP_001185826.1:n.584-51G>T
NM_001198898.1:c.479-51G>T (ACY1) NP_001185827.1:n.479-51G>T
NM_001316331.1:c.854-51G>T (ABHD14A-ACY1) NP_001303260.1:n.854-51G>T
NM_000666.3:c.584-51G>T (ACY1) MANE Select NP_000657.1:n.584-51G>T
NM_001198895.2:c.584-51G>T (ACY1) NP_001185824.1:n.584-51G>T
NM_001198896.2:c.368-51G>T (ACY1) NP_001185825.1:n.368-51G>T
NM_001198897.2:c.584-51G>T (ACY1) NP_001185826.1:n.584-51G>T
NM_001198898.2:c.479-51G>T (ACY1) NP_001185827.1:n.479-51G>T
NM_001316331.2:c.854-51G>T (ABHD14A-ACY1) NP_001303260.1:n.854-51G>T