Canonical Allele Identifier: CA433748931

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021195G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987179G>A , CM000665.2:g.51987179G>A	GRCh38
NC_000003.11:g.52021195G>A , CM000665.1:g.52021195G>A	GRCh37
NC_000003.10:g.51996235G>A	NCBI36
NG_012036.1:g.8633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.690G>A (ACY1)	ENSP00000384296.2:p.Arg230=
ENST00000464587.2:n.376G>A (ACY1)
ENST00000486081.6:c.*536G>A (ABHD14A-ACY1)	ENSP00000420395.1:n.*536G>A
ENST00000635785.1:c.887+118G>A (ABHD14A-ACY1)
ENST00000635797.1:c.585G>A (ACY1)	ENSP00000490007.1:p.Arg195=
ENST00000635937.1:c.*947G>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*947G>A
ENST00000635941.1:c.964G>A (ACY1)	ENSP00000490309.1:n.964G>A
ENST00000635946.1:c.*1047G>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*1047G>A
ENST00000635951.1:c.*962G>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*962G>A
ENST00000635952.1:c.777G>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Arg259=
ENST00000636089.1:c.*1027G>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*1027G>A
ENST00000636358.2:c.690G>A (ACY1) MANE Select	ENSP00000490149.1:p.Arg230=
ENST00000636490.1:c.*1027G>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*1027G>A
ENST00000636556.1:c.*635G>A (ACY1)	ENSP00000490500.1:n.*635G>A
ENST00000636646.1:c.*927G>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*927G>A
ENST00000636660.1:c.653G>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1302G>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1302G>A
ENST00000636826.1:c.*621G>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*621G>A
ENST00000636880.1:c.*400G>A (ACY1)	ENSP00000489947.1:n.*400G>A
ENST00000636942.1:c.*571G>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*571G>A
ENST00000637025.1:c.*811G>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*811G>A
ENST00000637034.1:n.123G>A (ACY1)
ENST00000637130.1:c.*911G>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*911G>A
ENST00000637199.1:n.163G>A (ACY1)
ENST00000637222.1:c.690G>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Arg230=
ENST00000637349.1:c.*220+118G>A (ACY1)	ENSP00000489688.1:n.*220+118G>A
ENST00000637460.1:n.724G>A (ACY1)
ENST00000637512.1:c.940G>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1438G>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1438G>A
ENST00000637696.1:c.*1047G>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*1047G>A
ENST00000637730.1:c.1223G>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1438G>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1438G>A
ENST00000637978.1:c.1259G>A (ABHD14A-ACY1)
ENST00000638096.1:n.581G>A (ACY1)
ENST00000638136.1:n.1106G>A (ACY1)
ENST00000404366.6:c.690G>A (ACY1)	ENSP00000384296.2:p.Arg230=
ENST00000463721.5:c.*601G>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*601G>A
ENST00000463937.1:c.993G>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Arg331=
ENST00000464587.1:n.376G>A (ACY1)
ENST00000465121.5:n.763G>A (ACY1)
ENST00000476351.5:c.585G>A (ACY1)	ENSP00000417056.1:p.Arg195=
ENST00000476854.5:c.657+118G>A (ACY1)	ENSP00000419262.1:n.657+118G>A
ENST00000491318.5:c.584-130G>A (ACY1)	ENSP00000418683.1:n.584-130G>A
ENST00000494103.5:c.474G>A (ACY1)	ENSP00000417618.1:p.Arg158=
NM_000666.2:c.690G>A (ACY1)	NP_000657.1:p.Arg230=
NM_001198895.1:c.690G>A (ACY1)	NP_001185824.1:p.Arg230=
NM_001198896.1:c.474G>A (ACY1)	NP_001185825.1:p.Arg158=
NM_001198897.1:c.657+118G>A (ACY1)	NP_001185826.1:n.657+118G>A
NM_001198898.1:c.585G>A (ACY1)	NP_001185827.1:p.Arg195=
NM_001316331.1:c.960G>A (ABHD14A-ACY1)	NP_001303260.1:p.Arg320=
NM_000666.3:c.690G>A (ACY1) MANE Select	NP_000657.1:p.Arg230=
NM_001198895.2:c.690G>A (ACY1)	NP_001185824.1:p.Arg230=
NM_001198896.2:c.474G>A (ACY1)	NP_001185825.1:p.Arg158=
NM_001198897.2:c.657+118G>A (ACY1)	NP_001185826.1:n.657+118G>A
NM_001198898.2:c.585G>A (ACY1)	NP_001185827.1:p.Arg195=
NM_001316331.2:c.960G>A (ABHD14A-ACY1)	NP_001303260.1:p.Arg320=