Canonical Allele Identifier: CA433748927

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021189A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987173A>G , CM000665.2:g.51987173A>G	GRCh38
NC_000003.11:g.52021189A>G , CM000665.1:g.52021189A>G	GRCh37
NC_000003.10:g.51996229A>G	NCBI36
NG_012036.1:g.8627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.684A>G (ACY1)	ENSP00000384296.2:p.Ala228=
ENST00000464587.2:n.370A>G (ACY1)
ENST00000486081.6:c.*530A>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*530A>G
ENST00000635785.1:c.887+112A>G (ABHD14A-ACY1)
ENST00000635797.1:c.579A>G (ACY1)	ENSP00000490007.1:p.Ala193=
ENST00000635937.1:c.*941A>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*941A>G
ENST00000635941.1:c.958A>G (ACY1)	ENSP00000490309.1:n.958A>G
ENST00000635946.1:c.*1041A>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*1041A>G
ENST00000635951.1:c.*956A>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*956A>G
ENST00000635952.1:c.771A>G (ABHD14A-ACY1)	ENSP00000490434.1:p.Ala257=
ENST00000636085.1:c.*615A>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*615A>G
ENST00000636089.1:c.*1021A>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*1021A>G
ENST00000636358.2:c.684A>G (ACY1) MANE Select	ENSP00000490149.1:p.Ala228=
ENST00000636490.1:c.*1021A>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*1021A>G
ENST00000636556.1:c.*629A>G (ACY1)	ENSP00000490500.1:n.*629A>G
ENST00000636646.1:c.*921A>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*921A>G
ENST00000636660.1:c.647A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1296A>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1296A>G
ENST00000636826.1:c.*615A>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*615A>G
ENST00000636880.1:c.*394A>G (ACY1)	ENSP00000489947.1:n.*394A>G
ENST00000636942.1:c.*565A>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*565A>G
ENST00000637025.1:c.*805A>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*805A>G
ENST00000637034.1:n.117A>G (ACY1)
ENST00000637130.1:c.*905A>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*905A>G
ENST00000637199.1:n.157A>G (ACY1)
ENST00000637222.1:c.684A>G (ABHD14A-ACY1)	ENSP00000490353.1:p.Ala228=
ENST00000637349.1:c.*220+112A>G (ACY1)	ENSP00000489688.1:n.*220+112A>G
ENST00000637460.1:n.718A>G (ACY1)
ENST00000637512.1:c.934A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1432A>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1432A>G
ENST00000637696.1:c.*1041A>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*1041A>G
ENST00000637730.1:c.1217A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1432A>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1432A>G
ENST00000637978.1:c.1253A>G (ABHD14A-ACY1)
ENST00000638096.1:n.575A>G (ACY1)
ENST00000638136.1:n.1100A>G (ACY1)
ENST00000404366.6:c.684A>G (ACY1)	ENSP00000384296.2:p.Ala228=
ENST00000463721.5:c.*595A>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*595A>G
ENST00000463937.1:c.987A>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Ala329=
ENST00000464587.1:n.370A>G (ACY1)
ENST00000465121.5:n.757A>G (ACY1)
ENST00000476351.5:c.579A>G (ACY1)	ENSP00000417056.1:p.Ala193=
ENST00000476854.5:c.657+112A>G (ACY1)	ENSP00000419262.1:n.657+112A>G
ENST00000491318.5:c.584-136A>G (ACY1)	ENSP00000418683.1:n.584-136A>G
ENST00000494103.5:c.468A>G (ACY1)	ENSP00000417618.1:p.Ala156=
NM_000666.2:c.684A>G (ACY1)	NP_000657.1:p.Ala228=
NM_001198895.1:c.684A>G (ACY1)	NP_001185824.1:p.Ala228=
NM_001198896.1:c.468A>G (ACY1)	NP_001185825.1:p.Ala156=
NM_001198897.1:c.657+112A>G (ACY1)	NP_001185826.1:n.657+112A>G
NM_001198898.1:c.579A>G (ACY1)	NP_001185827.1:p.Ala193=
NM_001316331.1:c.954A>G (ABHD14A-ACY1)	NP_001303260.1:p.Ala318=
NM_000666.3:c.684A>G (ACY1) MANE Select	NP_000657.1:p.Ala228=
NM_001198895.2:c.684A>G (ACY1)	NP_001185824.1:p.Ala228=
NM_001198896.2:c.468A>G (ACY1)	NP_001185825.1:p.Ala156=
NM_001198897.2:c.657+112A>G (ACY1)	NP_001185826.1:n.657+112A>G
NM_001198898.2:c.579A>G (ACY1)	NP_001185827.1:p.Ala193=
NM_001316331.2:c.954A>G (ABHD14A-ACY1)	NP_001303260.1:p.Ala318=