Canonical Allele Identifier: CA74718519

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs112726414
• gnomAD v4: 3-51987105-T-C
• MyVariant Identifiers: chr3:g.52021121T>C (hg19) ; chr3:g.51987105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987105T>C , CM000665.2:g.51987105T>C	GRCh38
NC_000003.11:g.52021121T>C , CM000665.1:g.52021121T>C	GRCh37
NC_000003.10:g.51996161T>C	NCBI36
NG_012036.1:g.8559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.658-42T>C (ACY1)	ENSP00000384296.2:n.658-42T>C
ENST00000464587.2:n.344-42T>C (ACY1)
ENST00000486081.6:c.*504-42T>C (ABHD14A-ACY1)	ENSP00000420395.1:n.*504-42T>C
ENST00000635785.1:c.887+44T>C (ABHD14A-ACY1)
ENST00000635797.1:c.553-42T>C (ACY1)	ENSP00000490007.1:n.553-42T>C
ENST00000635937.1:c.*873T>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*873T>C
ENST00000635941.1:c.890T>C (ACY1)	ENSP00000490309.1:n.890T>C
ENST00000635946.1:c.*973T>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*973T>C
ENST00000635951.1:c.*930-42T>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*930-42T>C
ENST00000635952.1:c.745-42T>C (ABHD14A-ACY1)	ENSP00000490434.1:n.745-42T>C
ENST00000636085.1:c.*547T>C (ABHD14A-ACY1)	ENSP00000489981.1:n.*547T>C
ENST00000636089.1:c.*995-42T>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*995-42T>C
ENST00000636358.2:c.658-42T>C (ACY1) MANE Select	ENSP00000490149.1:n.658-42T>C
ENST00000636490.1:c.*995-42T>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*995-42T>C
ENST00000636556.1:c.*603-42T>C (ACY1)	ENSP00000490500.1:n.*603-42T>C
ENST00000636646.1:c.*895-42T>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*895-42T>C
ENST00000636660.1:c.579T>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1228T>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1228T>C
ENST00000636826.1:c.*547T>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*547T>C
ENST00000636880.1:c.*368-42T>C (ACY1)	ENSP00000489947.1:n.*368-42T>C
ENST00000636942.1:c.*539-42T>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*539-42T>C
ENST00000637025.1:c.*737T>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*737T>C
ENST00000637034.1:n.49T>C (ACY1)
ENST00000637130.1:c.*837T>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*837T>C
ENST00000637199.1:n.131-42T>C (ACY1)
ENST00000637209.1:c.*368-42T>C (ACY1)	ENSP00000490708.1:n.*368-42T>C
ENST00000637222.1:c.658-42T>C (ABHD14A-ACY1)	ENSP00000490353.1:n.658-42T>C
ENST00000637349.1:c.*220+44T>C (ACY1)	ENSP00000489688.1:n.*220+44T>C
ENST00000637460.1:n.692-42T>C (ACY1)
ENST00000637461.1:c.548T>C (ABHD14A-ACY1)
ENST00000637512.1:c.866T>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1364T>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1364T>C
ENST00000637696.1:c.*973T>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*973T>C
ENST00000637730.1:c.1191-42T>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1364T>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1364T>C
ENST00000637978.1:c.1227-42T>C (ABHD14A-ACY1)
ENST00000638096.1:n.507T>C (ACY1)
ENST00000638136.1:n.1032T>C (ACY1)
ENST00000404366.6:c.658-42T>C (ACY1)	ENSP00000384296.2:n.658-42T>C
ENST00000463721.5:c.*569-42T>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*569-42T>C
ENST00000463937.1:c.961-42T>C (ABHD14A-ACY1)	ENSP00000420487.1:n.961-42T>C
ENST00000464587.1:n.344-42T>C (ACY1)
ENST00000465121.5:n.731-42T>C (ACY1)
ENST00000476351.5:c.553-42T>C (ACY1)	ENSP00000417056.1:n.553-42T>C
ENST00000476854.5:c.657+44T>C (ACY1)	ENSP00000419262.1:n.657+44T>C
ENST00000491318.5:c.584-204T>C (ACY1)	ENSP00000418683.1:n.584-204T>C
ENST00000494103.5:c.442-42T>C (ACY1)	ENSP00000417618.1:n.442-42T>C
NM_000666.2:c.658-42T>C (ACY1)	NP_000657.1:n.658-42T>C
NM_001198895.1:c.658-42T>C (ACY1)	NP_001185824.1:n.658-42T>C
NM_001198896.1:c.442-42T>C (ACY1)	NP_001185825.1:n.442-42T>C
NM_001198897.1:c.657+44T>C (ACY1)	NP_001185826.1:n.657+44T>C
NM_001198898.1:c.553-42T>C (ACY1)	NP_001185827.1:n.553-42T>C
NM_001316331.1:c.928-42T>C (ABHD14A-ACY1)	NP_001303260.1:n.928-42T>C
NM_000666.3:c.658-42T>C (ACY1) MANE Select	NP_000657.1:n.658-42T>C
NM_001198895.2:c.658-42T>C (ACY1)	NP_001185824.1:n.658-42T>C
NM_001198896.2:c.442-42T>C (ACY1)	NP_001185825.1:n.442-42T>C
NM_001198897.2:c.657+44T>C (ACY1)	NP_001185826.1:n.657+44T>C
NM_001198898.2:c.553-42T>C (ACY1)	NP_001185827.1:n.553-42T>C
NM_001316331.2:c.928-42T>C (ABHD14A-ACY1)	NP_001303260.1:n.928-42T>C