Canonical Allele Identifier: CA353091000
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987176C>G , CM000665.2:g.51987176C>G GRCh38
NC_000003.11:g.52021192C>G , CM000665.1:g.52021192C>G GRCh37
NC_000003.10:g.51996232C>G NCBI36
NG_012036.1:g.8630C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.687C>G (ACY1) ENSP00000384296.2:p.Phe229Leu
ENST00000464587.2:n.373C>G (ACY1)
ENST00000486081.6:c.*533C>G (ABHD14A-ACY1) ENSP00000420395.1:n.*533C>G
ENST00000635785.1:c.887+115C>G (ABHD14A-ACY1)
ENST00000635797.1:c.582C>G (ACY1) ENSP00000490007.1:p.Phe194Leu
ENST00000635937.1:c.*944C>G (ABHD14A-ACY1) ENSP00000489887.1:n.*944C>G
ENST00000635941.1:c.961C>G (ACY1) ENSP00000490309.1:n.961C>G
ENST00000635946.1:c.*1044C>G (ABHD14A-ACY1) ENSP00000490284.1:n.*1044C>G
ENST00000635951.1:c.*959C>G (ABHD14A-ACY1) ENSP00000490649.1:n.*959C>G
ENST00000635952.1:c.774C>G (ABHD14A-ACY1) ENSP00000490434.1:p.Phe258Leu
ENST00000636085.1:c.*618C>G (ABHD14A-ACY1) ENSP00000489981.1:n.*618C>G
ENST00000636089.1:c.*1024C>G (ABHD14A-ACY1) ENSP00000490657.1:n.*1024C>G
ENST00000636358.2:c.687C>G (ACY1) MANE Select ENSP00000490149.1:p.Phe229Leu
ENST00000636490.1:c.*1024C>G (ABHD14A-ACY1) ENSP00000490575.1:n.*1024C>G
ENST00000636556.1:c.*632C>G (ACY1) ENSP00000490500.1:n.*632C>G
ENST00000636646.1:c.*924C>G (ABHD14A-ACY1) ENSP00000490688.1:n.*924C>G
ENST00000636660.1:c.650C>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1299C>G (ABHD14A-ACY1) ENSP00000490429.1:n.*1299C>G
ENST00000636826.1:c.*618C>G (ABHD14A-ACY1) ENSP00000489721.1:n.*618C>G
ENST00000636880.1:c.*397C>G (ACY1) ENSP00000489947.1:n.*397C>G
ENST00000636942.1:c.*568C>G (ABHD14A-ACY1) ENSP00000490848.1:n.*568C>G
ENST00000637025.1:c.*808C>G (ABHD14A-ACY1) ENSP00000490236.1:n.*808C>G
ENST00000637034.1:n.120C>G (ACY1)
ENST00000637130.1:c.*908C>G (ABHD14A-ACY1) ENSP00000490887.1:n.*908C>G
ENST00000637199.1:n.160C>G (ACY1)
ENST00000637222.1:c.687C>G (ABHD14A-ACY1) ENSP00000490353.1:p.Phe229Leu
ENST00000637349.1:c.*220+115C>G (ACY1) ENSP00000489688.1:n.*220+115C>G
ENST00000637460.1:n.721C>G (ACY1)
ENST00000637512.1:c.937C>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1435C>G (ABHD14A-ACY1) ENSP00000490319.1:n.*1435C>G
ENST00000637696.1:c.*1044C>G (ABHD14A-ACY1) ENSP00000490554.1:n.*1044C>G
ENST00000637730.1:c.1220C>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1435C>G (ABHD14A-ACY1) ENSP00000490052.1:n.*1435C>G
ENST00000637978.1:c.1256C>G (ABHD14A-ACY1)
ENST00000638096.1:n.578C>G (ACY1)
ENST00000638136.1:n.1103C>G (ACY1)
ENST00000404366.6:c.687C>G (ACY1) ENSP00000384296.2:p.Phe229Leu
ENST00000463721.5:c.*598C>G (ABHD14A-ACY1) ENSP00000417688.1:n.*598C>G
ENST00000463937.1:c.990C>G (ABHD14A-ACY1) ENSP00000420487.1:p.Phe330Leu
ENST00000464587.1:n.373C>G (ACY1)
ENST00000465121.5:n.760C>G (ACY1)
ENST00000476351.5:c.582C>G (ACY1) ENSP00000417056.1:p.Phe194Leu
ENST00000476854.5:c.657+115C>G (ACY1) ENSP00000419262.1:n.657+115C>G
ENST00000491318.5:c.584-133C>G (ACY1) ENSP00000418683.1:n.584-133C>G
ENST00000494103.5:c.471C>G (ACY1) ENSP00000417618.1:p.Phe157Leu
NM_000666.2:c.687C>G (ACY1) NP_000657.1:p.Phe229Leu
NM_001198895.1:c.687C>G (ACY1) NP_001185824.1:p.Phe229Leu
NM_001198896.1:c.471C>G (ACY1) NP_001185825.1:p.Phe157Leu
NM_001198897.1:c.657+115C>G (ACY1) NP_001185826.1:n.657+115C>G
NM_001198898.1:c.582C>G (ACY1) NP_001185827.1:p.Phe194Leu
NM_001316331.1:c.957C>G (ABHD14A-ACY1) NP_001303260.1:p.Phe319Leu
NM_000666.3:c.687C>G (ACY1) MANE Select NP_000657.1:p.Phe229Leu
NM_001198895.2:c.687C>G (ACY1) NP_001185824.1:p.Phe229Leu
NM_001198896.2:c.471C>G (ACY1) NP_001185825.1:p.Phe157Leu
NM_001198897.2:c.657+115C>G (ACY1) NP_001185826.1:n.657+115C>G
NM_001198898.2:c.582C>G (ACY1) NP_001185827.1:p.Phe194Leu
NM_001316331.2:c.957C>G (ABHD14A-ACY1) NP_001303260.1:p.Phe319Leu