Canonical Allele Identifier: CA2597447505

Gene: ACY1 ABHD14A-ACY1

Linked Data

• gnomAD v3: 3-51987096-A-G
• gnomAD v4: 3-51987096-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987096A>G , CM000665.2:g.51987096A>G	GRCh38
NC_000003.11:g.52021112A>G , CM000665.1:g.52021112A>G	GRCh37
NC_000003.10:g.51996152A>G	NCBI36
NG_012036.1:g.8550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.657+35A>G (ACY1)	ENSP00000384296.2:n.657+35A>G
ENST00000464587.2:n.343+35A>G (ACY1)
ENST00000486081.6:c.*503+35A>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*503+35A>G
ENST00000635785.1:c.887+35A>G (ABHD14A-ACY1)
ENST00000635797.1:c.552+35A>G (ACY1)	ENSP00000490007.1:n.552+35A>G
ENST00000635937.1:c.*864A>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*864A>G
ENST00000635941.1:c.881A>G (ACY1)	ENSP00000490309.1:n.881A>G
ENST00000635946.1:c.*964A>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*964A>G
ENST00000635951.1:c.*929+35A>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*929+35A>G
ENST00000635952.1:c.744+35A>G (ABHD14A-ACY1)	ENSP00000490434.1:n.744+35A>G
ENST00000636085.1:c.*538A>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*538A>G
ENST00000636089.1:c.*994+35A>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*994+35A>G
ENST00000636358.2:c.657+35A>G (ACY1) MANE Select	ENSP00000490149.1:n.657+35A>G
ENST00000636490.1:c.*994+35A>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*994+35A>G
ENST00000636556.1:c.*602+35A>G (ACY1)	ENSP00000490500.1:n.*602+35A>G
ENST00000636646.1:c.*894+35A>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*894+35A>G
ENST00000636660.1:c.570A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1219A>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1219A>G
ENST00000636826.1:c.*538A>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*538A>G
ENST00000636880.1:c.*367+35A>G (ACY1)	ENSP00000489947.1:n.*367+35A>G
ENST00000636942.1:c.*538+35A>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*538+35A>G
ENST00000637025.1:c.*728A>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*728A>G
ENST00000637034.1:n.40A>G (ACY1)
ENST00000637130.1:c.*828A>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*828A>G
ENST00000637199.1:n.130+35A>G (ACY1)
ENST00000637209.1:c.*367+35A>G (ACY1)	ENSP00000490708.1:n.*367+35A>G
ENST00000637222.1:c.657+35A>G (ABHD14A-ACY1)	ENSP00000490353.1:n.657+35A>G
ENST00000637349.1:c.*220+35A>G (ACY1)	ENSP00000489688.1:n.*220+35A>G
ENST00000637460.1:n.691+35A>G (ACY1)
ENST00000637461.1:c.539A>G (ABHD14A-ACY1)
ENST00000637512.1:c.857A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1355A>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1355A>G
ENST00000637696.1:c.*964A>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*964A>G
ENST00000637730.1:c.1190+35A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1355A>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1355A>G
ENST00000637978.1:c.1226+35A>G (ABHD14A-ACY1)
ENST00000638096.1:n.498A>G (ACY1)
ENST00000638136.1:n.1023A>G (ACY1)
ENST00000404366.6:c.657+35A>G (ACY1)	ENSP00000384296.2:n.657+35A>G
ENST00000463721.5:c.*568+35A>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*568+35A>G
ENST00000463937.1:c.960+35A>G (ABHD14A-ACY1)	ENSP00000420487.1:n.960+35A>G
ENST00000464587.1:n.343+35A>G (ACY1)
ENST00000465121.5:n.730+35A>G (ACY1)
ENST00000476351.5:c.552+35A>G (ACY1)	ENSP00000417056.1:n.552+35A>G
ENST00000476854.5:c.657+35A>G (ACY1)	ENSP00000419262.1:n.657+35A>G
ENST00000491318.5:c.584-213A>G (ACY1)	ENSP00000418683.1:n.584-213A>G
ENST00000494103.5:c.441+35A>G (ACY1)	ENSP00000417618.1:n.441+35A>G
NM_000666.2:c.657+35A>G (ACY1)	NP_000657.1:n.657+35A>G
NM_001198895.1:c.657+35A>G (ACY1)	NP_001185824.1:n.657+35A>G
NM_001198896.1:c.441+35A>G (ACY1)	NP_001185825.1:n.441+35A>G
NM_001198897.1:c.657+35A>G (ACY1)	NP_001185826.1:n.657+35A>G
NM_001198898.1:c.552+35A>G (ACY1)	NP_001185827.1:n.552+35A>G
NM_001316331.1:c.927+35A>G (ABHD14A-ACY1)	NP_001303260.1:n.927+35A>G
NM_000666.3:c.657+35A>G (ACY1) MANE Select	NP_000657.1:n.657+35A>G
NM_001198895.2:c.657+35A>G (ACY1)	NP_001185824.1:n.657+35A>G
NM_001198896.2:c.441+35A>G (ACY1)	NP_001185825.1:n.441+35A>G
NM_001198897.2:c.657+35A>G (ACY1)	NP_001185826.1:n.657+35A>G
NM_001198898.2:c.552+35A>G (ACY1)	NP_001185827.1:n.552+35A>G
NM_001316331.2:c.927+35A>G (ABHD14A-ACY1)	NP_001303260.1:n.927+35A>G