Revel Score:
ENST00000458031
0.229
ENST00000463937
0.229
ENST00000232907
0.229
ENST00000476854
0.229
ENST00000476351
0.229
ENST00000494103
0.229
ENST00000404366
0.229
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00101394 (MID)
Genomes Max Group AF
0.0000117 (NFE)
Exomes Max Group AF
0.00106898 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51988980C>T , CM000665.2:g.51988980C>T | GRCh38 |
| NC_000003.11:g.52022996C>T , CM000665.1:g.52022996C>T | GRCh37 |
| NC_000003.10:g.51998036C>T | NCBI36 |
| NG_012036.1:g.10434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.1132C>T (ACY1) | ENSP00000384296.2:p.Arg378Trp | |
| ENST00000490244.2:n.595C>T (ACY1) | ||
| ENST00000635797.1:c.1027C>T (ACY1) | ENSP00000490007.1:p.Arg343Trp | |
| ENST00000635937.1:c.*2400C>T (ABHD14A-ACY1) | ENSP00000489887.1:n.*2400C>T | |
| ENST00000635941.1:c.1518C>T (ACY1) | ENSP00000490309.1:n.1518C>T | |
| ENST00000635946.1:c.*1703C>T (ABHD14A-ACY1) | ENSP00000490284.1:n.*1703C>T | |
| ENST00000635951.1:c.*1404C>T (ABHD14A-ACY1) | ENSP00000490649.1:n.*1404C>T | |
| ENST00000636089.1:c.*1469C>T (ABHD14A-ACY1) | ENSP00000490657.1:n.*1469C>T | |
| ENST00000636358.2:c.1132C>T (ACY1) MANE Select | ENSP00000490149.1:p.Arg378Trp | |
| ENST00000636490.1:c.*2368C>T (ABHD14A-ACY1) | ENSP00000490575.1:n.*2368C>T | |
| ENST00000636646.1:c.*1369C>T (ABHD14A-ACY1) | ENSP00000490688.1:n.*1369C>T | |
| ENST00000636660.1:c.1095C>T (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1744C>T (ABHD14A-ACY1) | ENSP00000490429.1:n.*1744C>T | |
| ENST00000636826.1:c.*2176C>T (ABHD14A-ACY1) | ENSP00000489721.1:n.*2176C>T | |
| ENST00000636880.1:c.*842C>T (ACY1) | ENSP00000489947.1:n.*842C>T | |
| ENST00000636942.1:c.*1013C>T (ABHD14A-ACY1) | ENSP00000490848.1:n.*1013C>T | |
| ENST00000637025.1:c.*2366C>T (ABHD14A-ACY1) | ENSP00000490236.1:n.*2366C>T | |
| ENST00000637034.1:n.565C>T (ACY1) | ||
| ENST00000637130.1:c.*2364C>T (ABHD14A-ACY1) | ENSP00000490887.1:n.*2364C>T | |
| ENST00000637149.1:c.223C>T (ACY1) | ||
| ENST00000637199.1:n.605C>T (ACY1) | ||
| ENST00000637512.1:c.1382C>T (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1992C>T (ABHD14A-ACY1) | ENSP00000490319.1:n.*1992C>T | |
| ENST00000637696.1:c.*1601C>T (ABHD14A-ACY1) | ENSP00000490554.1:n.*1601C>T | |
| ENST00000637730.1:c.2564C>T (ABHD14A-ACY1) | ||
| ENST00000637746.1:n.505C>T (ACY1) | ||
| ENST00000637778.1:c.*2891C>T (ABHD14A-ACY1) | ENSP00000490052.1:n.*2891C>T | |
| ENST00000637978.1:c.1701C>T (ABHD14A-ACY1) | ||
| ENST00000638077.1:n.262C>T (ACY1) | ||
| ENST00000638136.1:n.1660C>T (ACY1) | ||
| ENST00000404366.6:c.1132C>T (ACY1) | ENSP00000384296.2:p.Arg378Trp | |
| ENST00000463721.5:c.*1043C>T (ABHD14A-ACY1) | ENSP00000417688.1:n.*1043C>T | |
| ENST00000463937.1:c.1435C>T (ABHD14A-ACY1) | ENSP00000420487.1:p.Arg479Trp | |
| ENST00000476351.5:c.1027C>T (ACY1) | ENSP00000417056.1:p.Arg343Trp | |
| ENST00000476854.5:c.937C>T (ACY1) | ENSP00000419262.1:p.Arg313Trp | |
| ENST00000490244.1:n.595C>T (ACY1) | ||
| ENST00000491318.5:c.*402C>T (ACY1) | ENSP00000418683.1:n.*402C>T | |
| ENST00000494103.5:c.916C>T (ACY1) | ENSP00000417618.1:p.Arg306Trp | |
| NM_000666.2:c.1132C>T (ACY1) | NP_000657.1:p.Arg378Trp | |
| NM_001198895.1:c.1132C>T (ACY1) | NP_001185824.1:p.Arg378Trp | |
| NM_001198896.1:c.916C>T (ACY1) | NP_001185825.1:p.Arg306Trp | |
| NM_001198897.1:c.937C>T (ACY1) | NP_001185826.1:p.Arg313Trp | |
| NM_001198898.1:c.1027C>T (ACY1) | NP_001185827.1:p.Arg343Trp | |
| NM_001316331.1:c.1402C>T (ABHD14A-ACY1) | NP_001303260.1:p.Arg468Trp | |
| NM_000666.3:c.1132C>T (ACY1) MANE Select | NP_000657.1:p.Arg378Trp | |
| NM_001198895.2:c.1132C>T (ACY1) | NP_001185824.1:p.Arg378Trp | |
| NM_001198896.2:c.916C>T (ACY1) | NP_001185825.1:p.Arg306Trp | |
| NM_001198897.2:c.937C>T (ACY1) | NP_001185826.1:p.Arg313Trp | |
| NM_001198898.2:c.1027C>T (ACY1) | NP_001185827.1:p.Arg343Trp | |
| NM_001316331.2:c.1402C>T (ABHD14A-ACY1) | NP_001303260.1:p.Arg468Trp |