Canonical Allele Identifier: CA353090545
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987040G>C , CM000665.2:g.51987040G>C GRCh38
NC_000003.11:g.52021056G>C , CM000665.1:g.52021056G>C GRCh37
NC_000003.10:g.51996096G>C NCBI36
NG_012036.1:g.8494G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.636G>C (ACY1) ENSP00000384296.2:p.Glu212Asp
ENST00000464587.2:n.322G>C (ACY1)
ENST00000486081.6:c.*482G>C (ABHD14A-ACY1) ENSP00000420395.1:n.*482G>C
ENST00000635785.1:c.866G>C (ABHD14A-ACY1)
ENST00000635797.1:c.531G>C (ACY1) ENSP00000490007.1:p.Glu177Asp
ENST00000635937.1:c.*808G>C (ABHD14A-ACY1) ENSP00000489887.1:n.*808G>C
ENST00000635941.1:c.825G>C (ACY1) ENSP00000490309.1:n.825G>C
ENST00000635946.1:c.*908G>C (ABHD14A-ACY1) ENSP00000490284.1:n.*908G>C
ENST00000635951.1:c.*908G>C (ABHD14A-ACY1) ENSP00000490649.1:n.*908G>C
ENST00000635952.1:c.723G>C (ABHD14A-ACY1) ENSP00000490434.1:p.Glu241Asp
ENST00000636085.1:c.*482G>C (ABHD14A-ACY1) ENSP00000489981.1:n.*482G>C
ENST00000636089.1:c.*973G>C (ABHD14A-ACY1) ENSP00000490657.1:n.*973G>C
ENST00000636358.2:c.636G>C (ACY1) MANE Select ENSP00000490149.1:p.Glu212Asp
ENST00000636490.1:c.*973G>C (ABHD14A-ACY1) ENSP00000490575.1:n.*973G>C
ENST00000636556.1:c.*581G>C (ACY1) ENSP00000490500.1:n.*581G>C
ENST00000636646.1:c.*873G>C (ABHD14A-ACY1) ENSP00000490688.1:n.*873G>C
ENST00000636660.1:c.514G>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1163G>C (ABHD14A-ACY1) ENSP00000490429.1:n.*1163G>C
ENST00000636826.1:c.*482G>C (ABHD14A-ACY1) ENSP00000489721.1:n.*482G>C
ENST00000636880.1:c.*346G>C (ACY1) ENSP00000489947.1:n.*346G>C
ENST00000636942.1:c.*517G>C (ABHD14A-ACY1) ENSP00000490848.1:n.*517G>C
ENST00000637025.1:c.*672G>C (ABHD14A-ACY1) ENSP00000490236.1:n.*672G>C
ENST00000637130.1:c.*772G>C (ABHD14A-ACY1) ENSP00000490887.1:n.*772G>C
ENST00000637199.1:n.109G>C (ACY1)
ENST00000637209.1:c.*346G>C (ACY1) ENSP00000490708.1:n.*346G>C
ENST00000637222.1:c.636G>C (ABHD14A-ACY1) ENSP00000490353.1:p.Glu212Asp
ENST00000637251.1:n.1709G>C (ACY1)
ENST00000637349.1:c.*199G>C (ACY1) ENSP00000489688.1:n.*199G>C
ENST00000637460.1:n.670G>C (ACY1)
ENST00000637461.1:c.483G>C (ABHD14A-ACY1)
ENST00000637512.1:c.801G>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1299G>C (ABHD14A-ACY1) ENSP00000490319.1:n.*1299G>C
ENST00000637696.1:c.*908G>C (ABHD14A-ACY1) ENSP00000490554.1:n.*908G>C
ENST00000637730.1:c.1169G>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1299G>C (ABHD14A-ACY1) ENSP00000490052.1:n.*1299G>C
ENST00000637978.1:c.1205G>C (ABHD14A-ACY1)
ENST00000638096.1:n.442G>C (ACY1)
ENST00000638136.1:n.967G>C (ACY1)
ENST00000404366.6:c.636G>C (ACY1) ENSP00000384296.2:p.Glu212Asp
ENST00000463721.5:c.*547G>C (ABHD14A-ACY1) ENSP00000417688.1:n.*547G>C
ENST00000463937.1:c.939G>C (ABHD14A-ACY1) ENSP00000420487.1:p.Glu313Asp
ENST00000464587.1:n.322G>C (ACY1)
ENST00000465121.5:n.709G>C (ACY1)
ENST00000469863.1:c.663G>C (ACY1) ENSP00000419830.1:p.Glu221Asp
ENST00000476351.5:c.531G>C (ACY1) ENSP00000417056.1:p.Glu177Asp
ENST00000476854.5:c.636G>C (ACY1) ENSP00000419262.1:p.Glu212Asp
ENST00000491318.5:c.584-269G>C (ACY1) ENSP00000418683.1:n.584-269G>C
ENST00000494103.5:c.420G>C (ACY1) ENSP00000417618.1:p.Glu140Asp
NM_000666.2:c.636G>C (ACY1) NP_000657.1:p.Glu212Asp
NM_001198895.1:c.636G>C (ACY1) NP_001185824.1:p.Glu212Asp
NM_001198896.1:c.420G>C (ACY1) NP_001185825.1:p.Glu140Asp
NM_001198897.1:c.636G>C (ACY1) NP_001185826.1:p.Glu212Asp
NM_001198898.1:c.531G>C (ACY1) NP_001185827.1:p.Glu177Asp
NM_001316331.1:c.906G>C (ABHD14A-ACY1) NP_001303260.1:p.Glu302Asp
NM_000666.3:c.636G>C (ACY1) MANE Select NP_000657.1:p.Glu212Asp
NM_001198895.2:c.636G>C (ACY1) NP_001185824.1:p.Glu212Asp
NM_001198896.2:c.420G>C (ACY1) NP_001185825.1:p.Glu140Asp
NM_001198897.2:c.636G>C (ACY1) NP_001185826.1:p.Glu212Asp
NM_001198898.2:c.531G>C (ACY1) NP_001185827.1:p.Glu177Asp
NM_001316331.2:c.906G>C (ABHD14A-ACY1) NP_001303260.1:p.Glu302Asp