Canonical Allele Identifier: CA543055683
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

dbSNP Id: rs1460224465
gnomAD v2: 3-52021090-C-T
gnomAD v4: 3-51987074-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987074C>T , CM000665.2:g.51987074C>T GRCh38
NC_000003.11:g.52021090C>T , CM000665.1:g.52021090C>T GRCh37
NC_000003.10:g.51996130C>T NCBI36
NG_012036.1:g.8528C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.657+13C>T (ACY1) ENSP00000384296.2:n.657+13C>T
ENST00000464587.2:n.343+13C>T (ACY1)
ENST00000486081.6:c.*503+13C>T (ABHD14A-ACY1) ENSP00000420395.1:n.*503+13C>T
ENST00000635785.1:c.887+13C>T (ABHD14A-ACY1)
ENST00000635797.1:c.552+13C>T (ACY1) ENSP00000490007.1:n.552+13C>T
ENST00000635937.1:c.*842C>T (ABHD14A-ACY1) ENSP00000489887.1:n.*842C>T
ENST00000635941.1:c.859C>T (ACY1) ENSP00000490309.1:n.859C>T
ENST00000635946.1:c.*942C>T (ABHD14A-ACY1) ENSP00000490284.1:n.*942C>T
ENST00000635951.1:c.*929+13C>T (ABHD14A-ACY1) ENSP00000490649.1:n.*929+13C>T
ENST00000635952.1:c.744+13C>T (ABHD14A-ACY1) ENSP00000490434.1:n.744+13C>T
ENST00000636085.1:c.*516C>T (ABHD14A-ACY1) ENSP00000489981.1:n.*516C>T
ENST00000636089.1:c.*994+13C>T (ABHD14A-ACY1) ENSP00000490657.1:n.*994+13C>T
ENST00000636358.2:c.657+13C>T (ACY1) MANE Select ENSP00000490149.1:n.657+13C>T
ENST00000636490.1:c.*994+13C>T (ABHD14A-ACY1) ENSP00000490575.1:n.*994+13C>T
ENST00000636556.1:c.*602+13C>T (ACY1) ENSP00000490500.1:n.*602+13C>T
ENST00000636646.1:c.*894+13C>T (ABHD14A-ACY1) ENSP00000490688.1:n.*894+13C>T
ENST00000636660.1:c.548C>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1197C>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1197C>T
ENST00000636826.1:c.*516C>T (ABHD14A-ACY1) ENSP00000489721.1:n.*516C>T
ENST00000636880.1:c.*367+13C>T (ACY1) ENSP00000489947.1:n.*367+13C>T
ENST00000636942.1:c.*538+13C>T (ABHD14A-ACY1) ENSP00000490848.1:n.*538+13C>T
ENST00000637025.1:c.*706C>T (ABHD14A-ACY1) ENSP00000490236.1:n.*706C>T
ENST00000637034.1:n.18C>T (ACY1)
ENST00000637130.1:c.*806C>T (ABHD14A-ACY1) ENSP00000490887.1:n.*806C>T
ENST00000637199.1:n.130+13C>T (ACY1)
ENST00000637209.1:c.*367+13C>T (ACY1) ENSP00000490708.1:n.*367+13C>T
ENST00000637222.1:c.657+13C>T (ABHD14A-ACY1) ENSP00000490353.1:n.657+13C>T
ENST00000637349.1:c.*220+13C>T (ACY1) ENSP00000489688.1:n.*220+13C>T
ENST00000637460.1:n.691+13C>T (ACY1)
ENST00000637461.1:c.517C>T (ABHD14A-ACY1)
ENST00000637512.1:c.835C>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1333C>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1333C>T
ENST00000637696.1:c.*942C>T (ABHD14A-ACY1) ENSP00000490554.1:n.*942C>T
ENST00000637730.1:c.1190+13C>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1333C>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1333C>T
ENST00000637978.1:c.1226+13C>T (ABHD14A-ACY1)
ENST00000638096.1:n.476C>T (ACY1)
ENST00000638136.1:n.1001C>T (ACY1)
ENST00000404366.6:c.657+13C>T (ACY1) ENSP00000384296.2:n.657+13C>T
ENST00000463721.5:c.*568+13C>T (ABHD14A-ACY1) ENSP00000417688.1:n.*568+13C>T
ENST00000463937.1:c.960+13C>T (ABHD14A-ACY1) ENSP00000420487.1:n.960+13C>T
ENST00000464587.1:n.343+13C>T (ACY1)
ENST00000465121.5:n.730+13C>T (ACY1)
ENST00000476351.5:c.552+13C>T (ACY1) ENSP00000417056.1:n.552+13C>T
ENST00000476854.5:c.657+13C>T (ACY1) ENSP00000419262.1:n.657+13C>T
ENST00000491318.5:c.584-235C>T (ACY1) ENSP00000418683.1:n.584-235C>T
ENST00000494103.5:c.441+13C>T (ACY1) ENSP00000417618.1:n.441+13C>T
NM_000666.2:c.657+13C>T (ACY1) NP_000657.1:n.657+13C>T
NM_001198895.1:c.657+13C>T (ACY1) NP_001185824.1:n.657+13C>T
NM_001198896.1:c.441+13C>T (ACY1) NP_001185825.1:n.441+13C>T
NM_001198897.1:c.657+13C>T (ACY1) NP_001185826.1:n.657+13C>T
NM_001198898.1:c.552+13C>T (ACY1) NP_001185827.1:n.552+13C>T
NM_001316331.1:c.927+13C>T (ABHD14A-ACY1) NP_001303260.1:n.927+13C>T
NM_000666.3:c.657+13C>T (ACY1) MANE Select NP_000657.1:n.657+13C>T
NM_001198895.2:c.657+13C>T (ACY1) NP_001185824.1:n.657+13C>T
NM_001198896.2:c.441+13C>T (ACY1) NP_001185825.1:n.441+13C>T
NM_001198897.2:c.657+13C>T (ACY1) NP_001185826.1:n.657+13C>T
NM_001198898.2:c.552+13C>T (ACY1) NP_001185827.1:n.552+13C>T
NM_001316331.2:c.927+13C>T (ABHD14A-ACY1) NP_001303260.1:n.927+13C>T