Canonical Allele Identifier: CA74718574

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs979744063
• gnomAD v3: 3-51987142-C-T
• gnomAD v4: 3-51987142-C-T
• MyVariant Identifiers: chr3:g.52021158C>T (hg19) ; chr3:g.51987142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987142C>T , CM000665.2:g.51987142C>T	GRCh38
NC_000003.11:g.52021158C>T , CM000665.1:g.52021158C>T	GRCh37
NC_000003.10:g.51996198C>T	NCBI36
NG_012036.1:g.8596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.658-5C>T (ACY1)	ENSP00000384296.2:n.658-5C>T
ENST00000464587.2:n.344-5C>T (ACY1)
ENST00000486081.6:c.*504-5C>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*504-5C>T
ENST00000635785.1:c.887+81C>T (ABHD14A-ACY1)
ENST00000635797.1:c.553-5C>T (ACY1)	ENSP00000490007.1:n.553-5C>T
ENST00000635937.1:c.*910C>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*910C>T
ENST00000635941.1:c.927C>T (ACY1)	ENSP00000490309.1:n.927C>T
ENST00000635946.1:c.*1010C>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*1010C>T
ENST00000635951.1:c.*930-5C>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*930-5C>T
ENST00000635952.1:c.745-5C>T (ABHD14A-ACY1)	ENSP00000490434.1:n.745-5C>T
ENST00000636085.1:c.*584C>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*584C>T
ENST00000636089.1:c.*995-5C>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*995-5C>T
ENST00000636358.2:c.658-5C>T (ACY1) MANE Select	ENSP00000490149.1:n.658-5C>T
ENST00000636490.1:c.*995-5C>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*995-5C>T
ENST00000636556.1:c.*603-5C>T (ACY1)	ENSP00000490500.1:n.*603-5C>T
ENST00000636646.1:c.*895-5C>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*895-5C>T
ENST00000636660.1:c.616C>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1265C>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1265C>T
ENST00000636826.1:c.*584C>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*584C>T
ENST00000636880.1:c.*368-5C>T (ACY1)	ENSP00000489947.1:n.*368-5C>T
ENST00000636942.1:c.*539-5C>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*539-5C>T
ENST00000637025.1:c.*774C>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*774C>T
ENST00000637034.1:n.86C>T (ACY1)
ENST00000637130.1:c.*874C>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*874C>T
ENST00000637199.1:n.131-5C>T (ACY1)
ENST00000637209.1:c.*368-5C>T (ACY1)	ENSP00000490708.1:n.*368-5C>T
ENST00000637222.1:c.658-5C>T (ABHD14A-ACY1)	ENSP00000490353.1:n.658-5C>T
ENST00000637349.1:c.*220+81C>T (ACY1)	ENSP00000489688.1:n.*220+81C>T
ENST00000637460.1:n.692-5C>T (ACY1)
ENST00000637512.1:c.903C>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1401C>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1401C>T
ENST00000637696.1:c.*1010C>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*1010C>T
ENST00000637730.1:c.1191-5C>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1401C>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1401C>T
ENST00000637978.1:c.1227-5C>T (ABHD14A-ACY1)
ENST00000638096.1:n.544C>T (ACY1)
ENST00000638136.1:n.1069C>T (ACY1)
ENST00000404366.6:c.658-5C>T (ACY1)	ENSP00000384296.2:n.658-5C>T
ENST00000463721.5:c.*569-5C>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*569-5C>T
ENST00000463937.1:c.961-5C>T (ABHD14A-ACY1)	ENSP00000420487.1:n.961-5C>T
ENST00000464587.1:n.344-5C>T (ACY1)
ENST00000465121.5:n.731-5C>T (ACY1)
ENST00000476351.5:c.553-5C>T (ACY1)	ENSP00000417056.1:n.553-5C>T
ENST00000476854.5:c.657+81C>T (ACY1)	ENSP00000419262.1:n.657+81C>T
ENST00000491318.5:c.584-167C>T (ACY1)	ENSP00000418683.1:n.584-167C>T
ENST00000494103.5:c.442-5C>T (ACY1)	ENSP00000417618.1:n.442-5C>T
NM_000666.2:c.658-5C>T (ACY1)	NP_000657.1:n.658-5C>T
NM_001198895.1:c.658-5C>T (ACY1)	NP_001185824.1:n.658-5C>T
NM_001198896.1:c.442-5C>T (ACY1)	NP_001185825.1:n.442-5C>T
NM_001198897.1:c.657+81C>T (ACY1)	NP_001185826.1:n.657+81C>T
NM_001198898.1:c.553-5C>T (ACY1)	NP_001185827.1:n.553-5C>T
NM_001316331.1:c.928-5C>T (ABHD14A-ACY1)	NP_001303260.1:n.928-5C>T
NM_000666.3:c.658-5C>T (ACY1) MANE Select	NP_000657.1:n.658-5C>T
NM_001198895.2:c.658-5C>T (ACY1)	NP_001185824.1:n.658-5C>T
NM_001198896.2:c.442-5C>T (ACY1)	NP_001185825.1:n.442-5C>T
NM_001198897.2:c.657+81C>T (ACY1)	NP_001185826.1:n.657+81C>T
NM_001198898.2:c.553-5C>T (ACY1)	NP_001185827.1:n.553-5C>T
NM_001316331.2:c.928-5C>T (ABHD14A-ACY1)	NP_001303260.1:n.928-5C>T