Canonical Allele Identifier: CA353090297

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021015A>T (hg19) ; chr3:g.51986999A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986999A>T , CM000665.2:g.51986999A>T	GRCh38
NC_000003.11:g.52021015A>T , CM000665.1:g.52021015A>T	GRCh37
NC_000003.10:g.51996055A>T	NCBI36
NG_012036.1:g.8453A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.595A>T (ACY1)	ENSP00000384296.2:p.Thr199Ser
ENST00000464587.2:n.281A>T (ACY1)
ENST00000486081.6:c.*441A>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*441A>T
ENST00000635785.1:c.825A>T (ABHD14A-ACY1)
ENST00000635797.1:c.490A>T (ACY1)	ENSP00000490007.1:p.Thr164Ser
ENST00000635937.1:c.*767A>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*767A>T
ENST00000635941.1:c.784A>T (ACY1)	ENSP00000490309.1:n.784A>T
ENST00000635946.1:c.*867A>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*867A>T
ENST00000635951.1:c.*867A>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*867A>T
ENST00000635952.1:c.682A>T (ABHD14A-ACY1)	ENSP00000490434.1:p.Thr228Ser
ENST00000636085.1:c.*441A>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*441A>T
ENST00000636089.1:c.*932A>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*932A>T
ENST00000636358.2:c.595A>T (ACY1) MANE Select	ENSP00000490149.1:p.Thr199Ser
ENST00000636490.1:c.*932A>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*932A>T
ENST00000636556.1:c.*540A>T (ACY1)	ENSP00000490500.1:n.*540A>T
ENST00000636646.1:c.*832A>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*832A>T
ENST00000636660.1:c.473A>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1122A>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1122A>T
ENST00000636826.1:c.*441A>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*441A>T
ENST00000636880.1:c.*305A>T (ACY1)	ENSP00000489947.1:n.*305A>T
ENST00000636942.1:c.*476A>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*476A>T
ENST00000637025.1:c.*631A>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*631A>T
ENST00000637130.1:c.*731A>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*731A>T
ENST00000637199.1:n.68A>T (ACY1)
ENST00000637209.1:c.*305A>T (ACY1)	ENSP00000490708.1:n.*305A>T
ENST00000637222.1:c.595A>T (ABHD14A-ACY1)	ENSP00000490353.1:p.Thr199Ser
ENST00000637251.1:n.1668A>T (ACY1)
ENST00000637349.1:c.*158A>T (ACY1)	ENSP00000489688.1:n.*158A>T
ENST00000637460.1:n.629A>T (ACY1)
ENST00000637461.1:c.442A>T (ABHD14A-ACY1)
ENST00000637512.1:c.760A>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1258A>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1258A>T
ENST00000637696.1:c.*867A>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*867A>T
ENST00000637730.1:c.1128A>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1258A>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1258A>T
ENST00000637978.1:c.1164A>T (ABHD14A-ACY1)
ENST00000638096.1:n.401A>T (ACY1)
ENST00000638136.1:n.926A>T (ACY1)
ENST00000404366.6:c.595A>T (ACY1)	ENSP00000384296.2:p.Thr199Ser
ENST00000463721.5:c.*506A>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*506A>T
ENST00000463937.1:c.898A>T (ABHD14A-ACY1)	ENSP00000420487.1:p.Thr300Ser
ENST00000464587.1:n.281A>T (ACY1)
ENST00000465121.5:n.668A>T (ACY1)
ENST00000469863.1:c.622A>T (ACY1)	ENSP00000419830.1:p.Thr208Ser
ENST00000476351.5:c.490A>T (ACY1)	ENSP00000417056.1:p.Thr164Ser
ENST00000476854.5:c.595A>T (ACY1)	ENSP00000419262.1:p.Thr199Ser
ENST00000491318.5:c.584-310A>T (ACY1)	ENSP00000418683.1:n.584-310A>T
ENST00000494103.5:c.379A>T (ACY1)	ENSP00000417618.1:p.Thr127Ser
NM_000666.2:c.595A>T (ACY1)	NP_000657.1:p.Thr199Ser
NM_001198895.1:c.595A>T (ACY1)	NP_001185824.1:p.Thr199Ser
NM_001198896.1:c.379A>T (ACY1)	NP_001185825.1:p.Thr127Ser
NM_001198897.1:c.595A>T (ACY1)	NP_001185826.1:p.Thr199Ser
NM_001198898.1:c.490A>T (ACY1)	NP_001185827.1:p.Thr164Ser
NM_001316331.1:c.865A>T (ABHD14A-ACY1)	NP_001303260.1:p.Thr289Ser
NM_000666.3:c.595A>T (ACY1) MANE Select	NP_000657.1:p.Thr199Ser
NM_001198895.2:c.595A>T (ACY1)	NP_001185824.1:p.Thr199Ser
NM_001198896.2:c.379A>T (ACY1)	NP_001185825.1:p.Thr127Ser
NM_001198897.2:c.595A>T (ACY1)	NP_001185826.1:p.Thr199Ser
NM_001198898.2:c.490A>T (ACY1)	NP_001185827.1:p.Thr164Ser
NM_001316331.2:c.865A>T (ABHD14A-ACY1)	NP_001303260.1:p.Thr289Ser