Canonical Allele Identifier: CA353090352

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021025G>T (hg19) ; chr3:g.51987009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987009G>T , CM000665.2:g.51987009G>T	GRCh38
NC_000003.11:g.52021025G>T , CM000665.1:g.52021025G>T	GRCh37
NC_000003.10:g.51996065G>T	NCBI36
NG_012036.1:g.8463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.605G>T (ACY1)	ENSP00000384296.2:p.Gly202Val
ENST00000464587.2:n.291G>T (ACY1)
ENST00000486081.6:c.*451G>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*451G>T
ENST00000635785.1:c.835G>T (ABHD14A-ACY1)
ENST00000635797.1:c.500G>T (ACY1)	ENSP00000490007.1:p.Gly167Val
ENST00000635937.1:c.*777G>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*777G>T
ENST00000635941.1:c.794G>T (ACY1)	ENSP00000490309.1:n.794G>T
ENST00000635946.1:c.*877G>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*877G>T
ENST00000635951.1:c.*877G>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*877G>T
ENST00000635952.1:c.692G>T (ABHD14A-ACY1)	ENSP00000490434.1:p.Gly231Val
ENST00000636085.1:c.*451G>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*451G>T
ENST00000636089.1:c.*942G>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*942G>T
ENST00000636358.2:c.605G>T (ACY1) MANE Select	ENSP00000490149.1:p.Gly202Val
ENST00000636490.1:c.*942G>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*942G>T
ENST00000636556.1:c.*550G>T (ACY1)	ENSP00000490500.1:n.*550G>T
ENST00000636646.1:c.*842G>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*842G>T
ENST00000636660.1:c.483G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1132G>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1132G>T
ENST00000636826.1:c.*451G>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*451G>T
ENST00000636880.1:c.*315G>T (ACY1)	ENSP00000489947.1:n.*315G>T
ENST00000636942.1:c.*486G>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*486G>T
ENST00000637025.1:c.*641G>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*641G>T
ENST00000637130.1:c.*741G>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*741G>T
ENST00000637199.1:n.78G>T (ACY1)
ENST00000637209.1:c.*315G>T (ACY1)	ENSP00000490708.1:n.*315G>T
ENST00000637222.1:c.605G>T (ABHD14A-ACY1)	ENSP00000490353.1:p.Gly202Val
ENST00000637251.1:n.1678G>T (ACY1)
ENST00000637349.1:c.*168G>T (ACY1)	ENSP00000489688.1:n.*168G>T
ENST00000637460.1:n.639G>T (ACY1)
ENST00000637461.1:c.452G>T (ABHD14A-ACY1)
ENST00000637512.1:c.770G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1268G>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1268G>T
ENST00000637696.1:c.*877G>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*877G>T
ENST00000637730.1:c.1138G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1268G>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1268G>T
ENST00000637978.1:c.1174G>T (ABHD14A-ACY1)
ENST00000638096.1:n.411G>T (ACY1)
ENST00000638136.1:n.936G>T (ACY1)
ENST00000404366.6:c.605G>T (ACY1)	ENSP00000384296.2:p.Gly202Val
ENST00000463721.5:c.*516G>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*516G>T
ENST00000463937.1:c.908G>T (ABHD14A-ACY1)	ENSP00000420487.1:p.Gly303Val
ENST00000464587.1:n.291G>T (ACY1)
ENST00000465121.5:n.678G>T (ACY1)
ENST00000469863.1:c.632G>T (ACY1)	ENSP00000419830.1:p.Gly211Val
ENST00000476351.5:c.500G>T (ACY1)	ENSP00000417056.1:p.Gly167Val
ENST00000476854.5:c.605G>T (ACY1)	ENSP00000419262.1:p.Gly202Val
ENST00000491318.5:c.584-300G>T (ACY1)	ENSP00000418683.1:n.584-300G>T
ENST00000494103.5:c.389G>T (ACY1)	ENSP00000417618.1:p.Gly130Val
NM_000666.2:c.605G>T (ACY1)	NP_000657.1:p.Gly202Val
NM_001198895.1:c.605G>T (ACY1)	NP_001185824.1:p.Gly202Val
NM_001198896.1:c.389G>T (ACY1)	NP_001185825.1:p.Gly130Val
NM_001198897.1:c.605G>T (ACY1)	NP_001185826.1:p.Gly202Val
NM_001198898.1:c.500G>T (ACY1)	NP_001185827.1:p.Gly167Val
NM_001316331.1:c.875G>T (ABHD14A-ACY1)	NP_001303260.1:p.Gly292Val
NM_000666.3:c.605G>T (ACY1) MANE Select	NP_000657.1:p.Gly202Val
NM_001198895.2:c.605G>T (ACY1)	NP_001185824.1:p.Gly202Val
NM_001198896.2:c.389G>T (ACY1)	NP_001185825.1:p.Gly130Val
NM_001198897.2:c.605G>T (ACY1)	NP_001185826.1:p.Gly202Val
NM_001198898.2:c.500G>T (ACY1)	NP_001185827.1:p.Gly167Val
NM_001316331.2:c.875G>T (ABHD14A-ACY1)	NP_001303260.1:p.Gly292Val