Canonical Allele Identifier: CA433748923

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021186G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987170G>A , CM000665.2:g.51987170G>A	GRCh38
NC_000003.11:g.52021186G>A , CM000665.1:g.52021186G>A	GRCh37
NC_000003.10:g.51996226G>A	NCBI36
NG_012036.1:g.8624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.681G>A (ACY1)	ENSP00000384296.2:p.Leu227=
ENST00000464587.2:n.367G>A (ACY1)
ENST00000486081.6:c.*527G>A (ABHD14A-ACY1)	ENSP00000420395.1:n.*527G>A
ENST00000635785.1:c.887+109G>A (ABHD14A-ACY1)
ENST00000635797.1:c.576G>A (ACY1)	ENSP00000490007.1:p.Leu192=
ENST00000635937.1:c.*938G>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*938G>A
ENST00000635941.1:c.955G>A (ACY1)	ENSP00000490309.1:n.955G>A
ENST00000635946.1:c.*1038G>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*1038G>A
ENST00000635951.1:c.*953G>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*953G>A
ENST00000635952.1:c.768G>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Leu256=
ENST00000636085.1:c.*612G>A (ABHD14A-ACY1)	ENSP00000489981.1:n.*612G>A
ENST00000636089.1:c.*1018G>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*1018G>A
ENST00000636358.2:c.681G>A (ACY1) MANE Select	ENSP00000490149.1:p.Leu227=
ENST00000636490.1:c.*1018G>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*1018G>A
ENST00000636556.1:c.*626G>A (ACY1)	ENSP00000490500.1:n.*626G>A
ENST00000636646.1:c.*918G>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*918G>A
ENST00000636660.1:c.644G>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1293G>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1293G>A
ENST00000636826.1:c.*612G>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*612G>A
ENST00000636880.1:c.*391G>A (ACY1)	ENSP00000489947.1:n.*391G>A
ENST00000636942.1:c.*562G>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*562G>A
ENST00000637025.1:c.*802G>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*802G>A
ENST00000637034.1:n.114G>A (ACY1)
ENST00000637130.1:c.*902G>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*902G>A
ENST00000637199.1:n.154G>A (ACY1)
ENST00000637222.1:c.681G>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Leu227=
ENST00000637349.1:c.*220+109G>A (ACY1)	ENSP00000489688.1:n.*220+109G>A
ENST00000637460.1:n.715G>A (ACY1)
ENST00000637512.1:c.931G>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1429G>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1429G>A
ENST00000637696.1:c.*1038G>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*1038G>A
ENST00000637730.1:c.1214G>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1429G>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1429G>A
ENST00000637978.1:c.1250G>A (ABHD14A-ACY1)
ENST00000638096.1:n.572G>A (ACY1)
ENST00000638136.1:n.1097G>A (ACY1)
ENST00000404366.6:c.681G>A (ACY1)	ENSP00000384296.2:p.Leu227=
ENST00000463721.5:c.*592G>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*592G>A
ENST00000463937.1:c.984G>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Leu328=
ENST00000464587.1:n.367G>A (ACY1)
ENST00000465121.5:n.754G>A (ACY1)
ENST00000476351.5:c.576G>A (ACY1)	ENSP00000417056.1:p.Leu192=
ENST00000476854.5:c.657+109G>A (ACY1)	ENSP00000419262.1:n.657+109G>A
ENST00000491318.5:c.584-139G>A (ACY1)	ENSP00000418683.1:n.584-139G>A
ENST00000494103.5:c.465G>A (ACY1)	ENSP00000417618.1:p.Leu155=
NM_000666.2:c.681G>A (ACY1)	NP_000657.1:p.Leu227=
NM_001198895.1:c.681G>A (ACY1)	NP_001185824.1:p.Leu227=
NM_001198896.1:c.465G>A (ACY1)	NP_001185825.1:p.Leu155=
NM_001198897.1:c.657+109G>A (ACY1)	NP_001185826.1:n.657+109G>A
NM_001198898.1:c.576G>A (ACY1)	NP_001185827.1:p.Leu192=
NM_001316331.1:c.951G>A (ABHD14A-ACY1)	NP_001303260.1:p.Leu317=
NM_000666.3:c.681G>A (ACY1) MANE Select	NP_000657.1:p.Leu227=
NM_001198895.2:c.681G>A (ACY1)	NP_001185824.1:p.Leu227=
NM_001198896.2:c.465G>A (ACY1)	NP_001185825.1:p.Leu155=
NM_001198897.2:c.657+109G>A (ACY1)	NP_001185826.1:n.657+109G>A
NM_001198898.2:c.576G>A (ACY1)	NP_001185827.1:p.Leu192=
NM_001316331.2:c.951G>A (ABHD14A-ACY1)	NP_001303260.1:p.Leu317=