Canonical Allele Identifier: CA353090907

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021178T>G (hg19) ; chr3:g.51987162T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987162T>G , CM000665.2:g.51987162T>G	GRCh38
NC_000003.11:g.52021178T>G , CM000665.1:g.52021178T>G	GRCh37
NC_000003.10:g.51996218T>G	NCBI36
NG_012036.1:g.8616T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.673T>G (ACY1)	ENSP00000384296.2:p.Ser225Ala
ENST00000464587.2:n.359T>G (ACY1)
ENST00000486081.6:c.*519T>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*519T>G
ENST00000635785.1:c.887+101T>G (ABHD14A-ACY1)
ENST00000635797.1:c.568T>G (ACY1)	ENSP00000490007.1:p.Ser190Ala
ENST00000635937.1:c.*930T>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*930T>G
ENST00000635941.1:c.947T>G (ACY1)	ENSP00000490309.1:n.947T>G
ENST00000635946.1:c.*1030T>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*1030T>G
ENST00000635951.1:c.*945T>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*945T>G
ENST00000635952.1:c.760T>G (ABHD14A-ACY1)	ENSP00000490434.1:p.Ser254Ala
ENST00000636085.1:c.*604T>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*604T>G
ENST00000636089.1:c.*1010T>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*1010T>G
ENST00000636358.2:c.673T>G (ACY1) MANE Select	ENSP00000490149.1:p.Ser225Ala
ENST00000636490.1:c.*1010T>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*1010T>G
ENST00000636556.1:c.*618T>G (ACY1)	ENSP00000490500.1:n.*618T>G
ENST00000636646.1:c.*910T>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*910T>G
ENST00000636660.1:c.636T>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1285T>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1285T>G
ENST00000636826.1:c.*604T>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*604T>G
ENST00000636880.1:c.*383T>G (ACY1)	ENSP00000489947.1:n.*383T>G
ENST00000636942.1:c.*554T>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*554T>G
ENST00000637025.1:c.*794T>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*794T>G
ENST00000637034.1:n.106T>G (ACY1)
ENST00000637130.1:c.*894T>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*894T>G
ENST00000637199.1:n.146T>G (ACY1)
ENST00000637222.1:c.673T>G (ABHD14A-ACY1)	ENSP00000490353.1:p.Ser225Ala
ENST00000637349.1:c.*220+101T>G (ACY1)	ENSP00000489688.1:n.*220+101T>G
ENST00000637460.1:n.707T>G (ACY1)
ENST00000637512.1:c.923T>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1421T>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1421T>G
ENST00000637696.1:c.*1030T>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*1030T>G
ENST00000637730.1:c.1206T>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1421T>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1421T>G
ENST00000637978.1:c.1242T>G (ABHD14A-ACY1)
ENST00000638096.1:n.564T>G (ACY1)
ENST00000638136.1:n.1089T>G (ACY1)
ENST00000404366.6:c.673T>G (ACY1)	ENSP00000384296.2:p.Ser225Ala
ENST00000463721.5:c.*584T>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*584T>G
ENST00000463937.1:c.976T>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Ser326Ala
ENST00000464587.1:n.359T>G (ACY1)
ENST00000465121.5:n.746T>G (ACY1)
ENST00000476351.5:c.568T>G (ACY1)	ENSP00000417056.1:p.Ser190Ala
ENST00000476854.5:c.657+101T>G (ACY1)	ENSP00000419262.1:n.657+101T>G
ENST00000491318.5:c.584-147T>G (ACY1)	ENSP00000418683.1:n.584-147T>G
ENST00000494103.5:c.457T>G (ACY1)	ENSP00000417618.1:p.Ser153Ala
NM_000666.2:c.673T>G (ACY1)	NP_000657.1:p.Ser225Ala
NM_001198895.1:c.673T>G (ACY1)	NP_001185824.1:p.Ser225Ala
NM_001198896.1:c.457T>G (ACY1)	NP_001185825.1:p.Ser153Ala
NM_001198897.1:c.657+101T>G (ACY1)	NP_001185826.1:n.657+101T>G
NM_001198898.1:c.568T>G (ACY1)	NP_001185827.1:p.Ser190Ala
NM_001316331.1:c.943T>G (ABHD14A-ACY1)	NP_001303260.1:p.Ser315Ala
NM_000666.3:c.673T>G (ACY1) MANE Select	NP_000657.1:p.Ser225Ala
NM_001198895.2:c.673T>G (ACY1)	NP_001185824.1:p.Ser225Ala
NM_001198896.2:c.457T>G (ACY1)	NP_001185825.1:p.Ser153Ala
NM_001198897.2:c.657+101T>G (ACY1)	NP_001185826.1:n.657+101T>G
NM_001198898.2:c.568T>G (ACY1)	NP_001185827.1:p.Ser190Ala
NM_001316331.2:c.943T>G (ABHD14A-ACY1)	NP_001303260.1:p.Ser315Ala