Canonical Allele Identifier: CA353090990

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021191T>A (hg19) ; chr3:g.51987175T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987175T>A , CM000665.2:g.51987175T>A	GRCh38
NC_000003.11:g.52021191T>A , CM000665.1:g.52021191T>A	GRCh37
NC_000003.10:g.51996231T>A	NCBI36
NG_012036.1:g.8629T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.686T>A (ACY1)	ENSP00000384296.2:p.Phe229Tyr
ENST00000464587.2:n.372T>A (ACY1)
ENST00000486081.6:c.*532T>A (ABHD14A-ACY1)	ENSP00000420395.1:n.*532T>A
ENST00000635785.1:c.887+114T>A (ABHD14A-ACY1)
ENST00000635797.1:c.581T>A (ACY1)	ENSP00000490007.1:p.Phe194Tyr
ENST00000635937.1:c.*943T>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*943T>A
ENST00000635941.1:c.960T>A (ACY1)	ENSP00000490309.1:n.960T>A
ENST00000635946.1:c.*1043T>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*1043T>A
ENST00000635951.1:c.*958T>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*958T>A
ENST00000635952.1:c.773T>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Phe258Tyr
ENST00000636085.1:c.*617T>A (ABHD14A-ACY1)	ENSP00000489981.1:n.*617T>A
ENST00000636089.1:c.*1023T>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*1023T>A
ENST00000636358.2:c.686T>A (ACY1) MANE Select	ENSP00000490149.1:p.Phe229Tyr
ENST00000636490.1:c.*1023T>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*1023T>A
ENST00000636556.1:c.*631T>A (ACY1)	ENSP00000490500.1:n.*631T>A
ENST00000636646.1:c.*923T>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*923T>A
ENST00000636660.1:c.649T>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1298T>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1298T>A
ENST00000636826.1:c.*617T>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*617T>A
ENST00000636880.1:c.*396T>A (ACY1)	ENSP00000489947.1:n.*396T>A
ENST00000636942.1:c.*567T>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*567T>A
ENST00000637025.1:c.*807T>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*807T>A
ENST00000637034.1:n.119T>A (ACY1)
ENST00000637130.1:c.*907T>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*907T>A
ENST00000637199.1:n.159T>A (ACY1)
ENST00000637222.1:c.686T>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Phe229Tyr
ENST00000637349.1:c.*220+114T>A (ACY1)	ENSP00000489688.1:n.*220+114T>A
ENST00000637460.1:n.720T>A (ACY1)
ENST00000637512.1:c.936T>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1434T>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1434T>A
ENST00000637696.1:c.*1043T>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*1043T>A
ENST00000637730.1:c.1219T>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1434T>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1434T>A
ENST00000637978.1:c.1255T>A (ABHD14A-ACY1)
ENST00000638096.1:n.577T>A (ACY1)
ENST00000638136.1:n.1102T>A (ACY1)
ENST00000404366.6:c.686T>A (ACY1)	ENSP00000384296.2:p.Phe229Tyr
ENST00000463721.5:c.*597T>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*597T>A
ENST00000463937.1:c.989T>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Phe330Tyr
ENST00000464587.1:n.372T>A (ACY1)
ENST00000465121.5:n.759T>A (ACY1)
ENST00000476351.5:c.581T>A (ACY1)	ENSP00000417056.1:p.Phe194Tyr
ENST00000476854.5:c.657+114T>A (ACY1)	ENSP00000419262.1:n.657+114T>A
ENST00000491318.5:c.584-134T>A (ACY1)	ENSP00000418683.1:n.584-134T>A
ENST00000494103.5:c.470T>A (ACY1)	ENSP00000417618.1:p.Phe157Tyr
NM_000666.2:c.686T>A (ACY1)	NP_000657.1:p.Phe229Tyr
NM_001198895.1:c.686T>A (ACY1)	NP_001185824.1:p.Phe229Tyr
NM_001198896.1:c.470T>A (ACY1)	NP_001185825.1:p.Phe157Tyr
NM_001198897.1:c.657+114T>A (ACY1)	NP_001185826.1:n.657+114T>A
NM_001198898.1:c.581T>A (ACY1)	NP_001185827.1:p.Phe194Tyr
NM_001316331.1:c.956T>A (ABHD14A-ACY1)	NP_001303260.1:p.Phe319Tyr
NM_000666.3:c.686T>A (ACY1) MANE Select	NP_000657.1:p.Phe229Tyr
NM_001198895.2:c.686T>A (ACY1)	NP_001185824.1:p.Phe229Tyr
NM_001198896.2:c.470T>A (ACY1)	NP_001185825.1:p.Phe157Tyr
NM_001198897.2:c.657+114T>A (ACY1)	NP_001185826.1:n.657+114T>A
NM_001198898.2:c.581T>A (ACY1)	NP_001185827.1:p.Phe194Tyr
NM_001316331.2:c.956T>A (ABHD14A-ACY1)	NP_001303260.1:p.Phe319Tyr