Canonical Allele Identifier: CA353090851

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021168G>T (hg19) ; chr3:g.51987152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987152G>T , CM000665.2:g.51987152G>T	GRCh38
NC_000003.11:g.52021168G>T , CM000665.1:g.52021168G>T	GRCh37
NC_000003.10:g.51996208G>T	NCBI36
NG_012036.1:g.8606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.663G>T (ACY1)	ENSP00000384296.2:p.Lys221Asn
ENST00000464587.2:n.349G>T (ACY1)
ENST00000486081.6:c.*509G>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*509G>T
ENST00000635785.1:c.887+91G>T (ABHD14A-ACY1)
ENST00000635797.1:c.558G>T (ACY1)	ENSP00000490007.1:p.Lys186Asn
ENST00000635937.1:c.*920G>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*920G>T
ENST00000635941.1:c.937G>T (ACY1)	ENSP00000490309.1:n.937G>T
ENST00000635946.1:c.*1020G>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*1020G>T
ENST00000635951.1:c.*935G>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*935G>T
ENST00000635952.1:c.750G>T (ABHD14A-ACY1)	ENSP00000490434.1:p.Lys250Asn
ENST00000636085.1:c.*594G>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*594G>T
ENST00000636089.1:c.*1000G>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*1000G>T
ENST00000636358.2:c.663G>T (ACY1) MANE Select	ENSP00000490149.1:p.Lys221Asn
ENST00000636490.1:c.*1000G>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*1000G>T
ENST00000636556.1:c.*608G>T (ACY1)	ENSP00000490500.1:n.*608G>T
ENST00000636646.1:c.*900G>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*900G>T
ENST00000636660.1:c.626G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1275G>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1275G>T
ENST00000636826.1:c.*594G>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*594G>T
ENST00000636880.1:c.*373G>T (ACY1)	ENSP00000489947.1:n.*373G>T
ENST00000636942.1:c.*544G>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*544G>T
ENST00000637025.1:c.*784G>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*784G>T
ENST00000637034.1:n.96G>T (ACY1)
ENST00000637130.1:c.*884G>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*884G>T
ENST00000637199.1:n.136G>T (ACY1)
ENST00000637209.1:c.*373G>T (ACY1)	ENSP00000490708.1:n.*373G>T
ENST00000637222.1:c.663G>T (ABHD14A-ACY1)	ENSP00000490353.1:p.Lys221Asn
ENST00000637349.1:c.*220+91G>T (ACY1)	ENSP00000489688.1:n.*220+91G>T
ENST00000637460.1:n.697G>T (ACY1)
ENST00000637512.1:c.913G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1411G>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1411G>T
ENST00000637696.1:c.*1020G>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*1020G>T
ENST00000637730.1:c.1196G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1411G>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1411G>T
ENST00000637978.1:c.1232G>T (ABHD14A-ACY1)
ENST00000638096.1:n.554G>T (ACY1)
ENST00000638136.1:n.1079G>T (ACY1)
ENST00000404366.6:c.663G>T (ACY1)	ENSP00000384296.2:p.Lys221Asn
ENST00000463721.5:c.*574G>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*574G>T
ENST00000463937.1:c.966G>T (ABHD14A-ACY1)	ENSP00000420487.1:p.Lys322Asn
ENST00000464587.1:n.349G>T (ACY1)
ENST00000465121.5:n.736G>T (ACY1)
ENST00000476351.5:c.558G>T (ACY1)	ENSP00000417056.1:p.Lys186Asn
ENST00000476854.5:c.657+91G>T (ACY1)	ENSP00000419262.1:n.657+91G>T
ENST00000491318.5:c.584-157G>T (ACY1)	ENSP00000418683.1:n.584-157G>T
ENST00000494103.5:c.447G>T (ACY1)	ENSP00000417618.1:p.Lys149Asn
NM_000666.2:c.663G>T (ACY1)	NP_000657.1:p.Lys221Asn
NM_001198895.1:c.663G>T (ACY1)	NP_001185824.1:p.Lys221Asn
NM_001198896.1:c.447G>T (ACY1)	NP_001185825.1:p.Lys149Asn
NM_001198897.1:c.657+91G>T (ACY1)	NP_001185826.1:n.657+91G>T
NM_001198898.1:c.558G>T (ACY1)	NP_001185827.1:p.Lys186Asn
NM_001316331.1:c.933G>T (ABHD14A-ACY1)	NP_001303260.1:p.Lys311Asn
NM_000666.3:c.663G>T (ACY1) MANE Select	NP_000657.1:p.Lys221Asn
NM_001198895.2:c.663G>T (ACY1)	NP_001185824.1:p.Lys221Asn
NM_001198896.2:c.447G>T (ACY1)	NP_001185825.1:p.Lys149Asn
NM_001198897.2:c.657+91G>T (ACY1)	NP_001185826.1:n.657+91G>T
NM_001198898.2:c.558G>T (ACY1)	NP_001185827.1:p.Lys186Asn
NM_001316331.2:c.933G>T (ABHD14A-ACY1)	NP_001303260.1:p.Lys311Asn