Canonical Allele Identifier: CA353090682

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021074G>T (hg19) ; chr3:g.51987058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987058G>T , CM000665.2:g.51987058G>T	GRCh38
NC_000003.11:g.52021074G>T , CM000665.1:g.52021074G>T	GRCh37
NC_000003.10:g.51996114G>T	NCBI36
NG_012036.1:g.8512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.654G>T (ACY1)	ENSP00000384296.2:p.Lys218Asn
ENST00000464587.2:n.340G>T (ACY1)
ENST00000486081.6:c.*500G>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*500G>T
ENST00000635785.1:c.884G>T (ABHD14A-ACY1)
ENST00000635797.1:c.549G>T (ACY1)	ENSP00000490007.1:p.Lys183Asn
ENST00000635937.1:c.*826G>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*826G>T
ENST00000635941.1:c.843G>T (ACY1)	ENSP00000490309.1:n.843G>T
ENST00000635946.1:c.*926G>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*926G>T
ENST00000635951.1:c.*926G>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*926G>T
ENST00000635952.1:c.741G>T (ABHD14A-ACY1)	ENSP00000490434.1:p.Lys247Asn
ENST00000636085.1:c.*500G>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*500G>T
ENST00000636089.1:c.*991G>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*991G>T
ENST00000636358.2:c.654G>T (ACY1) MANE Select	ENSP00000490149.1:p.Lys218Asn
ENST00000636490.1:c.*991G>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*991G>T
ENST00000636556.1:c.*599G>T (ACY1)	ENSP00000490500.1:n.*599G>T
ENST00000636646.1:c.*891G>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*891G>T
ENST00000636660.1:c.532G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1181G>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1181G>T
ENST00000636826.1:c.*500G>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*500G>T
ENST00000636880.1:c.*364G>T (ACY1)	ENSP00000489947.1:n.*364G>T
ENST00000636942.1:c.*535G>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*535G>T
ENST00000637025.1:c.*690G>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*690G>T
ENST00000637034.1:n.2G>T (ACY1)
ENST00000637130.1:c.*790G>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*790G>T
ENST00000637199.1:n.127G>T (ACY1)
ENST00000637209.1:c.*364G>T (ACY1)	ENSP00000490708.1:n.*364G>T
ENST00000637222.1:c.654G>T (ABHD14A-ACY1)	ENSP00000490353.1:p.Lys218Asn
ENST00000637251.1:n.1727G>T (ACY1)
ENST00000637349.1:c.*217G>T (ACY1)	ENSP00000489688.1:n.*217G>T
ENST00000637460.1:n.688G>T (ACY1)
ENST00000637461.1:c.501G>T (ABHD14A-ACY1)
ENST00000637512.1:c.819G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1317G>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1317G>T
ENST00000637696.1:c.*926G>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*926G>T
ENST00000637730.1:c.1187G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1317G>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1317G>T
ENST00000637978.1:c.1223G>T (ABHD14A-ACY1)
ENST00000638096.1:n.460G>T (ACY1)
ENST00000638136.1:n.985G>T (ACY1)
ENST00000404366.6:c.654G>T (ACY1)	ENSP00000384296.2:p.Lys218Asn
ENST00000463721.5:c.*565G>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*565G>T
ENST00000463937.1:c.957G>T (ABHD14A-ACY1)	ENSP00000420487.1:p.Lys319Asn
ENST00000464587.1:n.340G>T (ACY1)
ENST00000465121.5:n.727G>T (ACY1)
ENST00000469863.1:c.681G>T (ACY1)	ENSP00000419830.1:p.Lys227Asn
ENST00000476351.5:c.549G>T (ACY1)	ENSP00000417056.1:p.Lys183Asn
ENST00000476854.5:c.654G>T (ACY1)	ENSP00000419262.1:p.Lys218Asn
ENST00000491318.5:c.584-251G>T (ACY1)	ENSP00000418683.1:n.584-251G>T
ENST00000494103.5:c.438G>T (ACY1)	ENSP00000417618.1:p.Lys146Asn
NM_000666.2:c.654G>T (ACY1)	NP_000657.1:p.Lys218Asn
NM_001198895.1:c.654G>T (ACY1)	NP_001185824.1:p.Lys218Asn
NM_001198896.1:c.438G>T (ACY1)	NP_001185825.1:p.Lys146Asn
NM_001198897.1:c.654G>T (ACY1)	NP_001185826.1:p.Lys218Asn
NM_001198898.1:c.549G>T (ACY1)	NP_001185827.1:p.Lys183Asn
NM_001316331.1:c.924G>T (ABHD14A-ACY1)	NP_001303260.1:p.Lys308Asn
NM_000666.3:c.654G>T (ACY1) MANE Select	NP_000657.1:p.Lys218Asn
NM_001198895.2:c.654G>T (ACY1)	NP_001185824.1:p.Lys218Asn
NM_001198896.2:c.438G>T (ACY1)	NP_001185825.1:p.Lys146Asn
NM_001198897.2:c.654G>T (ACY1)	NP_001185826.1:p.Lys218Asn
NM_001198898.2:c.549G>T (ACY1)	NP_001185827.1:p.Lys183Asn
NM_001316331.2:c.924G>T (ABHD14A-ACY1)	NP_001303260.1:p.Lys308Asn