Canonical Allele Identifier: CA1047942832

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs1701095982
• gnomAD v3: 3-51987135-A-G
• gnomAD v4: 3-51987135-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987135A>G , CM000665.2:g.51987135A>G	GRCh38
NC_000003.11:g.52021151A>G , CM000665.1:g.52021151A>G	GRCh37
NC_000003.10:g.51996191A>G	NCBI36
NG_012036.1:g.8589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.658-12A>G (ACY1)	ENSP00000384296.2:n.658-12A>G
ENST00000464587.2:n.344-12A>G (ACY1)
ENST00000486081.6:c.*504-12A>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*504-12A>G
ENST00000635785.1:c.887+74A>G (ABHD14A-ACY1)
ENST00000635797.1:c.553-12A>G (ACY1)	ENSP00000490007.1:n.553-12A>G
ENST00000635937.1:c.*903A>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*903A>G
ENST00000635941.1:c.920A>G (ACY1)	ENSP00000490309.1:n.920A>G
ENST00000635946.1:c.*1003A>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*1003A>G
ENST00000635951.1:c.*930-12A>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*930-12A>G
ENST00000635952.1:c.745-12A>G (ABHD14A-ACY1)	ENSP00000490434.1:n.745-12A>G
ENST00000636085.1:c.*577A>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*577A>G
ENST00000636089.1:c.*995-12A>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*995-12A>G
ENST00000636358.2:c.658-12A>G (ACY1) MANE Select	ENSP00000490149.1:n.658-12A>G
ENST00000636490.1:c.*995-12A>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*995-12A>G
ENST00000636556.1:c.*603-12A>G (ACY1)	ENSP00000490500.1:n.*603-12A>G
ENST00000636646.1:c.*895-12A>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*895-12A>G
ENST00000636660.1:c.609A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1258A>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1258A>G
ENST00000636826.1:c.*577A>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*577A>G
ENST00000636880.1:c.*368-12A>G (ACY1)	ENSP00000489947.1:n.*368-12A>G
ENST00000636942.1:c.*539-12A>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*539-12A>G
ENST00000637025.1:c.*767A>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*767A>G
ENST00000637034.1:n.79A>G (ACY1)
ENST00000637130.1:c.*867A>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*867A>G
ENST00000637199.1:n.131-12A>G (ACY1)
ENST00000637209.1:c.*368-12A>G (ACY1)	ENSP00000490708.1:n.*368-12A>G
ENST00000637222.1:c.658-12A>G (ABHD14A-ACY1)	ENSP00000490353.1:n.658-12A>G
ENST00000637349.1:c.*220+74A>G (ACY1)	ENSP00000489688.1:n.*220+74A>G
ENST00000637460.1:n.692-12A>G (ACY1)
ENST00000637512.1:c.896A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1394A>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1394A>G
ENST00000637696.1:c.*1003A>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*1003A>G
ENST00000637730.1:c.1191-12A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1394A>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1394A>G
ENST00000637978.1:c.1227-12A>G (ABHD14A-ACY1)
ENST00000638096.1:n.537A>G (ACY1)
ENST00000638136.1:n.1062A>G (ACY1)
ENST00000404366.6:c.658-12A>G (ACY1)	ENSP00000384296.2:n.658-12A>G
ENST00000463721.5:c.*569-12A>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*569-12A>G
ENST00000463937.1:c.961-12A>G (ABHD14A-ACY1)	ENSP00000420487.1:n.961-12A>G
ENST00000464587.1:n.344-12A>G (ACY1)
ENST00000465121.5:n.731-12A>G (ACY1)
ENST00000476351.5:c.553-12A>G (ACY1)	ENSP00000417056.1:n.553-12A>G
ENST00000476854.5:c.657+74A>G (ACY1)	ENSP00000419262.1:n.657+74A>G
ENST00000491318.5:c.584-174A>G (ACY1)	ENSP00000418683.1:n.584-174A>G
ENST00000494103.5:c.442-12A>G (ACY1)	ENSP00000417618.1:n.442-12A>G
NM_000666.2:c.658-12A>G (ACY1)	NP_000657.1:n.658-12A>G
NM_001198895.1:c.658-12A>G (ACY1)	NP_001185824.1:n.658-12A>G
NM_001198896.1:c.442-12A>G (ACY1)	NP_001185825.1:n.442-12A>G
NM_001198897.1:c.657+74A>G (ACY1)	NP_001185826.1:n.657+74A>G
NM_001198898.1:c.553-12A>G (ACY1)	NP_001185827.1:n.553-12A>G
NM_001316331.1:c.928-12A>G (ABHD14A-ACY1)	NP_001303260.1:n.928-12A>G
NM_000666.3:c.658-12A>G (ACY1) MANE Select	NP_000657.1:n.658-12A>G
NM_001198895.2:c.658-12A>G (ACY1)	NP_001185824.1:n.658-12A>G
NM_001198896.2:c.442-12A>G (ACY1)	NP_001185825.1:n.442-12A>G
NM_001198897.2:c.657+74A>G (ACY1)	NP_001185826.1:n.657+74A>G
NM_001198898.2:c.553-12A>G (ACY1)	NP_001185827.1:n.553-12A>G
NM_001316331.2:c.928-12A>G (ABHD14A-ACY1)	NP_001303260.1:n.928-12A>G