Canonical Allele Identifier: CA353090617

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021066G>A (hg19) ; chr3:g.51987050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987050G>A , CM000665.2:g.51987050G>A	GRCh38
NC_000003.11:g.52021066G>A , CM000665.1:g.52021066G>A	GRCh37
NC_000003.10:g.51996106G>A	NCBI36
NG_012036.1:g.8504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.646G>A (ACY1)	ENSP00000384296.2:p.Ala216Thr
ENST00000464587.2:n.332G>A (ACY1)
ENST00000486081.6:c.*492G>A (ABHD14A-ACY1)	ENSP00000420395.1:n.*492G>A
ENST00000635785.1:c.876G>A (ABHD14A-ACY1)
ENST00000635797.1:c.541G>A (ACY1)	ENSP00000490007.1:p.Ala181Thr
ENST00000635937.1:c.*818G>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*818G>A
ENST00000635941.1:c.835G>A (ACY1)	ENSP00000490309.1:n.835G>A
ENST00000635946.1:c.*918G>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*918G>A
ENST00000635951.1:c.*918G>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*918G>A
ENST00000635952.1:c.733G>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Ala245Thr
ENST00000636085.1:c.*492G>A (ABHD14A-ACY1)	ENSP00000489981.1:n.*492G>A
ENST00000636089.1:c.*983G>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*983G>A
ENST00000636358.2:c.646G>A (ACY1) MANE Select	ENSP00000490149.1:p.Ala216Thr
ENST00000636490.1:c.*983G>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*983G>A
ENST00000636556.1:c.*591G>A (ACY1)	ENSP00000490500.1:n.*591G>A
ENST00000636646.1:c.*883G>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*883G>A
ENST00000636660.1:c.524G>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1173G>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1173G>A
ENST00000636826.1:c.*492G>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*492G>A
ENST00000636880.1:c.*356G>A (ACY1)	ENSP00000489947.1:n.*356G>A
ENST00000636942.1:c.*527G>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*527G>A
ENST00000637025.1:c.*682G>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*682G>A
ENST00000637130.1:c.*782G>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*782G>A
ENST00000637199.1:n.119G>A (ACY1)
ENST00000637209.1:c.*356G>A (ACY1)	ENSP00000490708.1:n.*356G>A
ENST00000637222.1:c.646G>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Ala216Thr
ENST00000637251.1:n.1719G>A (ACY1)
ENST00000637349.1:c.*209G>A (ACY1)	ENSP00000489688.1:n.*209G>A
ENST00000637460.1:n.680G>A (ACY1)
ENST00000637461.1:c.493G>A (ABHD14A-ACY1)
ENST00000637512.1:c.811G>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1309G>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1309G>A
ENST00000637696.1:c.*918G>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*918G>A
ENST00000637730.1:c.1179G>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1309G>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1309G>A
ENST00000637978.1:c.1215G>A (ABHD14A-ACY1)
ENST00000638096.1:n.452G>A (ACY1)
ENST00000638136.1:n.977G>A (ACY1)
ENST00000404366.6:c.646G>A (ACY1)	ENSP00000384296.2:p.Ala216Thr
ENST00000463721.5:c.*557G>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*557G>A
ENST00000463937.1:c.949G>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Ala317Thr
ENST00000464587.1:n.332G>A (ACY1)
ENST00000465121.5:n.719G>A (ACY1)
ENST00000469863.1:c.673G>A (ACY1)	ENSP00000419830.1:p.Ala225Thr
ENST00000476351.5:c.541G>A (ACY1)	ENSP00000417056.1:p.Ala181Thr
ENST00000476854.5:c.646G>A (ACY1)	ENSP00000419262.1:p.Ala216Thr
ENST00000491318.5:c.584-259G>A (ACY1)	ENSP00000418683.1:n.584-259G>A
ENST00000494103.5:c.430G>A (ACY1)	ENSP00000417618.1:p.Ala144Thr
NM_000666.2:c.646G>A (ACY1)	NP_000657.1:p.Ala216Thr
NM_001198895.1:c.646G>A (ACY1)	NP_001185824.1:p.Ala216Thr
NM_001198896.1:c.430G>A (ACY1)	NP_001185825.1:p.Ala144Thr
NM_001198897.1:c.646G>A (ACY1)	NP_001185826.1:p.Ala216Thr
NM_001198898.1:c.541G>A (ACY1)	NP_001185827.1:p.Ala181Thr
NM_001316331.1:c.916G>A (ABHD14A-ACY1)	NP_001303260.1:p.Ala306Thr
NM_000666.3:c.646G>A (ACY1) MANE Select	NP_000657.1:p.Ala216Thr
NM_001198895.2:c.646G>A (ACY1)	NP_001185824.1:p.Ala216Thr
NM_001198896.2:c.430G>A (ACY1)	NP_001185825.1:p.Ala144Thr
NM_001198897.2:c.646G>A (ACY1)	NP_001185826.1:p.Ala216Thr
NM_001198898.2:c.541G>A (ACY1)	NP_001185827.1:p.Ala181Thr
NM_001316331.2:c.916G>A (ABHD14A-ACY1)	NP_001303260.1:p.Ala306Thr