Canonical Allele Identifier: CA2665956577

Gene: ACY1 ABHD14A-ACY1

Linked Data

• gnomAD v4: 3-51986871-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986871G>T , CM000665.2:g.51986871G>T	GRCh38
NC_000003.11:g.52020887G>T , CM000665.1:g.52020887G>T	GRCh37
NC_000003.10:g.51995927G>T	NCBI36
NG_012036.1:g.8325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.584-117G>T (ACY1)	ENSP00000384296.2:n.584-117G>T
ENST00000464587.2:n.270-117G>T (ACY1)
ENST00000486081.6:c.*430-117G>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*430-117G>T
ENST00000635785.1:c.814-117G>T (ABHD14A-ACY1)
ENST00000635797.1:c.479-117G>T (ACY1)	ENSP00000490007.1:n.479-117G>T
ENST00000635937.1:c.*639G>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*639G>T
ENST00000635941.1:c.656G>T (ACY1)	ENSP00000490309.1:n.656G>T
ENST00000635946.1:c.*739G>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*739G>T
ENST00000635951.1:c.*739G>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*739G>T
ENST00000635952.1:c.671-117G>T (ABHD14A-ACY1)	ENSP00000490434.1:n.671-117G>T
ENST00000636047.1:n.561-74G>T (ACY1)
ENST00000636085.1:c.*430-117G>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*430-117G>T
ENST00000636089.1:c.*804G>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*804G>T
ENST00000636358.2:c.584-117G>T (ACY1) MANE Select	ENSP00000490149.1:n.584-117G>T
ENST00000636490.1:c.*804G>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*804G>T
ENST00000636556.1:c.*529-117G>T (ACY1)	ENSP00000490500.1:n.*529-117G>T
ENST00000636646.1:c.*704G>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*704G>T
ENST00000636660.1:c.462-117G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*994G>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*994G>T
ENST00000636826.1:c.*430-117G>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*430-117G>T
ENST00000636880.1:c.*294-117G>T (ACY1)	ENSP00000489947.1:n.*294-117G>T
ENST00000636942.1:c.*430-82G>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*430-82G>T
ENST00000637025.1:c.*503G>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*503G>T
ENST00000637130.1:c.*603G>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*603G>T
ENST00000637209.1:c.*294-117G>T (ACY1)	ENSP00000490708.1:n.*294-117G>T
ENST00000637222.1:c.584-117G>T (ABHD14A-ACY1)	ENSP00000490353.1:n.584-117G>T
ENST00000637251.1:n.1540G>T (ACY1)
ENST00000637349.1:c.*147-117G>T (ACY1)	ENSP00000489688.1:n.*147-117G>T
ENST00000637460.1:n.575-74G>T (ACY1)
ENST00000637461.1:c.431-117G>T (ABHD14A-ACY1)
ENST00000637512.1:c.749-117G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1130G>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1130G>T
ENST00000637696.1:c.*739G>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*739G>T
ENST00000637730.1:c.1000G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1130G>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1130G>T
ENST00000637978.1:c.1153-117G>T (ABHD14A-ACY1)
ENST00000638096.1:n.273G>T (ACY1)
ENST00000638136.1:n.915-117G>T (ACY1)
ENST00000404366.6:c.584-117G>T (ACY1)	ENSP00000384296.2:n.584-117G>T
ENST00000463721.5:c.*495-117G>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*495-117G>T
ENST00000463937.1:c.887-117G>T (ABHD14A-ACY1)	ENSP00000420487.1:n.887-117G>T
ENST00000464587.1:n.270-117G>T (ACY1)
ENST00000465121.5:n.657-117G>T (ACY1)
ENST00000469863.1:c.611-117G>T (ACY1)	ENSP00000419830.1:n.611-117G>T
ENST00000476351.5:c.479-117G>T (ACY1)	ENSP00000417056.1:n.479-117G>T
ENST00000476854.5:c.584-117G>T (ACY1)	ENSP00000419262.1:n.584-117G>T
ENST00000491318.5:c.583+210G>T (ACY1)	ENSP00000418683.1:n.583+210G>T
ENST00000494103.5:c.368-117G>T (ACY1)	ENSP00000417618.1:n.368-117G>T
ENST00000497128.1:n.896G>T (ABHD14A-ACY1)
NM_000666.2:c.584-117G>T (ACY1)	NP_000657.1:n.584-117G>T
NM_001198895.1:c.584-117G>T (ACY1)	NP_001185824.1:n.584-117G>T
NM_001198896.1:c.368-117G>T (ACY1)	NP_001185825.1:n.368-117G>T
NM_001198897.1:c.584-117G>T (ACY1)	NP_001185826.1:n.584-117G>T
NM_001198898.1:c.479-117G>T (ACY1)	NP_001185827.1:n.479-117G>T
NM_001316331.1:c.854-117G>T (ABHD14A-ACY1)	NP_001303260.1:n.854-117G>T
NM_000666.3:c.584-117G>T (ACY1) MANE Select	NP_000657.1:n.584-117G>T
NM_001198895.2:c.584-117G>T (ACY1)	NP_001185824.1:n.584-117G>T
NM_001198896.2:c.368-117G>T (ACY1)	NP_001185825.1:n.368-117G>T
NM_001198897.2:c.584-117G>T (ACY1)	NP_001185826.1:n.584-117G>T
NM_001198898.2:c.479-117G>T (ACY1)	NP_001185827.1:n.479-117G>T
NM_001316331.2:c.854-117G>T (ABHD14A-ACY1)	NP_001303260.1:n.854-117G>T