Canonical Allele Identifier: CA353090872
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

gnomAD v4: 3-51987156-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987156G>T , CM000665.2:g.51987156G>T GRCh38
NC_000003.11:g.52021172G>T , CM000665.1:g.52021172G>T GRCh37
NC_000003.10:g.51996212G>T NCBI36
NG_012036.1:g.8610G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.667G>T (ACY1) ENSP00000384296.2:p.Val223Leu
ENST00000464587.2:n.353G>T (ACY1)
ENST00000486081.6:c.*513G>T (ABHD14A-ACY1) ENSP00000420395.1:n.*513G>T
ENST00000635785.1:c.887+95G>T (ABHD14A-ACY1)
ENST00000635797.1:c.562G>T (ACY1) ENSP00000490007.1:p.Val188Leu
ENST00000635937.1:c.*924G>T (ABHD14A-ACY1) ENSP00000489887.1:n.*924G>T
ENST00000635941.1:c.941G>T (ACY1) ENSP00000490309.1:n.941G>T
ENST00000635946.1:c.*1024G>T (ABHD14A-ACY1) ENSP00000490284.1:n.*1024G>T
ENST00000635951.1:c.*939G>T (ABHD14A-ACY1) ENSP00000490649.1:n.*939G>T
ENST00000635952.1:c.754G>T (ABHD14A-ACY1) ENSP00000490434.1:p.Val252Leu
ENST00000636085.1:c.*598G>T (ABHD14A-ACY1) ENSP00000489981.1:n.*598G>T
ENST00000636089.1:c.*1004G>T (ABHD14A-ACY1) ENSP00000490657.1:n.*1004G>T
ENST00000636358.2:c.667G>T (ACY1) MANE Select ENSP00000490149.1:p.Val223Leu
ENST00000636490.1:c.*1004G>T (ABHD14A-ACY1) ENSP00000490575.1:n.*1004G>T
ENST00000636556.1:c.*612G>T (ACY1) ENSP00000490500.1:n.*612G>T
ENST00000636646.1:c.*904G>T (ABHD14A-ACY1) ENSP00000490688.1:n.*904G>T
ENST00000636660.1:c.630G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1279G>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1279G>T
ENST00000636826.1:c.*598G>T (ABHD14A-ACY1) ENSP00000489721.1:n.*598G>T
ENST00000636880.1:c.*377G>T (ACY1) ENSP00000489947.1:n.*377G>T
ENST00000636942.1:c.*548G>T (ABHD14A-ACY1) ENSP00000490848.1:n.*548G>T
ENST00000637025.1:c.*788G>T (ABHD14A-ACY1) ENSP00000490236.1:n.*788G>T
ENST00000637034.1:n.100G>T (ACY1)
ENST00000637130.1:c.*888G>T (ABHD14A-ACY1) ENSP00000490887.1:n.*888G>T
ENST00000637199.1:n.140G>T (ACY1)
ENST00000637222.1:c.667G>T (ABHD14A-ACY1) ENSP00000490353.1:p.Val223Leu
ENST00000637349.1:c.*220+95G>T (ACY1) ENSP00000489688.1:n.*220+95G>T
ENST00000637460.1:n.701G>T (ACY1)
ENST00000637512.1:c.917G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1415G>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1415G>T
ENST00000637696.1:c.*1024G>T (ABHD14A-ACY1) ENSP00000490554.1:n.*1024G>T
ENST00000637730.1:c.1200G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1415G>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1415G>T
ENST00000637978.1:c.1236G>T (ABHD14A-ACY1)
ENST00000638096.1:n.558G>T (ACY1)
ENST00000638136.1:n.1083G>T (ACY1)
ENST00000404366.6:c.667G>T (ACY1) ENSP00000384296.2:p.Val223Leu
ENST00000463721.5:c.*578G>T (ABHD14A-ACY1) ENSP00000417688.1:n.*578G>T
ENST00000463937.1:c.970G>T (ABHD14A-ACY1) ENSP00000420487.1:p.Val324Leu
ENST00000464587.1:n.353G>T (ACY1)
ENST00000465121.5:n.740G>T (ACY1)
ENST00000476351.5:c.562G>T (ACY1) ENSP00000417056.1:p.Val188Leu
ENST00000476854.5:c.657+95G>T (ACY1) ENSP00000419262.1:n.657+95G>T
ENST00000491318.5:c.584-153G>T (ACY1) ENSP00000418683.1:n.584-153G>T
ENST00000494103.5:c.451G>T (ACY1) ENSP00000417618.1:p.Val151Leu
NM_000666.2:c.667G>T (ACY1) NP_000657.1:p.Val223Leu
NM_001198895.1:c.667G>T (ACY1) NP_001185824.1:p.Val223Leu
NM_001198896.1:c.451G>T (ACY1) NP_001185825.1:p.Val151Leu
NM_001198897.1:c.657+95G>T (ACY1) NP_001185826.1:n.657+95G>T
NM_001198898.1:c.562G>T (ACY1) NP_001185827.1:p.Val188Leu
NM_001316331.1:c.937G>T (ABHD14A-ACY1) NP_001303260.1:p.Val313Leu
NM_000666.3:c.667G>T (ACY1) MANE Select NP_000657.1:p.Val223Leu
NM_001198895.2:c.667G>T (ACY1) NP_001185824.1:p.Val223Leu
NM_001198896.2:c.451G>T (ACY1) NP_001185825.1:p.Val151Leu
NM_001198897.2:c.657+95G>T (ACY1) NP_001185826.1:n.657+95G>T
NM_001198898.2:c.562G>T (ACY1) NP_001185827.1:p.Val188Leu
NM_001316331.2:c.937G>T (ABHD14A-ACY1) NP_001303260.1:p.Val313Leu