Canonical Allele Identifier: CA543055676

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs1174238837
• gnomAD v2: 3-52020935-C-T
• gnomAD v3: 3-51986919-C-T
• gnomAD v4: 3-51986919-C-T
• MyVariant Identifiers: chr3:g.52020935C>T (hg19) ; chr3:g.51986919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986919C>T , CM000665.2:g.51986919C>T	GRCh38
NC_000003.11:g.52020935C>T , CM000665.1:g.52020935C>T	GRCh37
NC_000003.10:g.51995975C>T	NCBI36
NG_012036.1:g.8373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.584-69C>T (ACY1)	ENSP00000384296.2:n.584-69C>T
ENST00000464587.2:n.270-69C>T (ACY1)
ENST00000486081.6:c.*430-69C>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*430-69C>T
ENST00000635785.1:c.814-69C>T (ABHD14A-ACY1)
ENST00000635797.1:c.479-69C>T (ACY1)	ENSP00000490007.1:n.479-69C>T
ENST00000635937.1:c.*687C>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*687C>T
ENST00000635941.1:c.704C>T (ACY1)	ENSP00000490309.1:n.704C>T
ENST00000635946.1:c.*787C>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*787C>T
ENST00000635951.1:c.*787C>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*787C>T
ENST00000635952.1:c.671-69C>T (ABHD14A-ACY1)	ENSP00000490434.1:n.671-69C>T
ENST00000636047.1:n.561-26C>T (ACY1)
ENST00000636085.1:c.*430-69C>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*430-69C>T
ENST00000636089.1:c.*852C>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*852C>T
ENST00000636358.2:c.584-69C>T (ACY1) MANE Select	ENSP00000490149.1:n.584-69C>T
ENST00000636490.1:c.*852C>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*852C>T
ENST00000636556.1:c.*529-69C>T (ACY1)	ENSP00000490500.1:n.*529-69C>T
ENST00000636646.1:c.*752C>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*752C>T
ENST00000636660.1:c.462-69C>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1042C>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1042C>T
ENST00000636826.1:c.*430-69C>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*430-69C>T
ENST00000636880.1:c.*294-69C>T (ACY1)	ENSP00000489947.1:n.*294-69C>T
ENST00000636942.1:c.*430-34C>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*430-34C>T
ENST00000637025.1:c.*551C>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*551C>T
ENST00000637130.1:c.*651C>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*651C>T
ENST00000637209.1:c.*294-69C>T (ACY1)	ENSP00000490708.1:n.*294-69C>T
ENST00000637222.1:c.584-69C>T (ABHD14A-ACY1)	ENSP00000490353.1:n.584-69C>T
ENST00000637251.1:n.1588C>T (ACY1)
ENST00000637349.1:c.*147-69C>T (ACY1)	ENSP00000489688.1:n.*147-69C>T
ENST00000637460.1:n.575-26C>T (ACY1)
ENST00000637461.1:c.431-69C>T (ABHD14A-ACY1)
ENST00000637512.1:c.749-69C>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1178C>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1178C>T
ENST00000637696.1:c.*787C>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*787C>T
ENST00000637730.1:c.1048C>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1178C>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1178C>T
ENST00000637978.1:c.1153-69C>T (ABHD14A-ACY1)
ENST00000638096.1:n.321C>T (ACY1)
ENST00000638136.1:n.915-69C>T (ACY1)
ENST00000404366.6:c.584-69C>T (ACY1)	ENSP00000384296.2:n.584-69C>T
ENST00000463721.5:c.*495-69C>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*495-69C>T
ENST00000463937.1:c.887-69C>T (ABHD14A-ACY1)	ENSP00000420487.1:n.887-69C>T
ENST00000464587.1:n.270-69C>T (ACY1)
ENST00000465121.5:n.657-69C>T (ACY1)
ENST00000469863.1:c.611-69C>T (ACY1)	ENSP00000419830.1:n.611-69C>T
ENST00000476351.5:c.479-69C>T (ACY1)	ENSP00000417056.1:n.479-69C>T
ENST00000476854.5:c.584-69C>T (ACY1)	ENSP00000419262.1:n.584-69C>T
ENST00000491318.5:c.583+258C>T (ACY1)	ENSP00000418683.1:n.583+258C>T
ENST00000494103.5:c.368-69C>T (ACY1)	ENSP00000417618.1:n.368-69C>T
NM_000666.2:c.584-69C>T (ACY1)	NP_000657.1:n.584-69C>T
NM_001198895.1:c.584-69C>T (ACY1)	NP_001185824.1:n.584-69C>T
NM_001198896.1:c.368-69C>T (ACY1)	NP_001185825.1:n.368-69C>T
NM_001198897.1:c.584-69C>T (ACY1)	NP_001185826.1:n.584-69C>T
NM_001198898.1:c.479-69C>T (ACY1)	NP_001185827.1:n.479-69C>T
NM_001316331.1:c.854-69C>T (ABHD14A-ACY1)	NP_001303260.1:n.854-69C>T
NM_000666.3:c.584-69C>T (ACY1) MANE Select	NP_000657.1:n.584-69C>T
NM_001198895.2:c.584-69C>T (ACY1)	NP_001185824.1:n.584-69C>T
NM_001198896.2:c.368-69C>T (ACY1)	NP_001185825.1:n.368-69C>T
NM_001198897.2:c.584-69C>T (ACY1)	NP_001185826.1:n.584-69C>T
NM_001198898.2:c.479-69C>T (ACY1)	NP_001185827.1:n.479-69C>T
NM_001316331.2:c.854-69C>T (ABHD14A-ACY1)	NP_001303260.1:n.854-69C>T