Linked Data
dbSNP Id:
rs1482417925
gnomAD v2:
3-52021031-C-T
gnomAD v3:
3-51987015-C-T
gnomAD v4:
3-51987015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987015C>T , CM000665.2:g.51987015C>T | GRCh38 |
| NC_000003.11:g.52021031C>T , CM000665.1:g.52021031C>T | GRCh37 |
| NC_000003.10:g.51996071C>T | NCBI36 |
| NG_012036.1:g.8469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.611C>T (ACY1) | ENSP00000384296.2:p.Pro204Leu | |
| ENST00000464587.2:n.297C>T (ACY1) | ||
| ENST00000486081.6:c.*457C>T (ABHD14A-ACY1) | ENSP00000420395.1:n.*457C>T | |
| ENST00000635785.1:c.841C>T (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.506C>T (ACY1) | ENSP00000490007.1:p.Pro169Leu | |
| ENST00000635937.1:c.*783C>T (ABHD14A-ACY1) | ENSP00000489887.1:n.*783C>T | |
| ENST00000635941.1:c.800C>T (ACY1) | ENSP00000490309.1:n.800C>T | |
| ENST00000635946.1:c.*883C>T (ABHD14A-ACY1) | ENSP00000490284.1:n.*883C>T | |
| ENST00000635951.1:c.*883C>T (ABHD14A-ACY1) | ENSP00000490649.1:n.*883C>T | |
| ENST00000635952.1:c.698C>T (ABHD14A-ACY1) | ENSP00000490434.1:p.Pro233Leu | |
| ENST00000636085.1:c.*457C>T (ABHD14A-ACY1) | ENSP00000489981.1:n.*457C>T | |
| ENST00000636089.1:c.*948C>T (ABHD14A-ACY1) | ENSP00000490657.1:n.*948C>T | |
| ENST00000636358.2:c.611C>T (ACY1) MANE Select | ENSP00000490149.1:p.Pro204Leu | |
| ENST00000636490.1:c.*948C>T (ABHD14A-ACY1) | ENSP00000490575.1:n.*948C>T | |
| ENST00000636556.1:c.*556C>T (ACY1) | ENSP00000490500.1:n.*556C>T | |
| ENST00000636646.1:c.*848C>T (ABHD14A-ACY1) | ENSP00000490688.1:n.*848C>T | |
| ENST00000636660.1:c.489C>T (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1138C>T (ABHD14A-ACY1) | ENSP00000490429.1:n.*1138C>T | |
| ENST00000636826.1:c.*457C>T (ABHD14A-ACY1) | ENSP00000489721.1:n.*457C>T | |
| ENST00000636880.1:c.*321C>T (ACY1) | ENSP00000489947.1:n.*321C>T | |
| ENST00000636942.1:c.*492C>T (ABHD14A-ACY1) | ENSP00000490848.1:n.*492C>T | |
| ENST00000637025.1:c.*647C>T (ABHD14A-ACY1) | ENSP00000490236.1:n.*647C>T | |
| ENST00000637130.1:c.*747C>T (ABHD14A-ACY1) | ENSP00000490887.1:n.*747C>T | |
| ENST00000637199.1:n.84C>T (ACY1) | ||
| ENST00000637209.1:c.*321C>T (ACY1) | ENSP00000490708.1:n.*321C>T | |
| ENST00000637222.1:c.611C>T (ABHD14A-ACY1) | ENSP00000490353.1:p.Pro204Leu | |
| ENST00000637251.1:n.1684C>T (ACY1) | ||
| ENST00000637349.1:c.*174C>T (ACY1) | ENSP00000489688.1:n.*174C>T | |
| ENST00000637460.1:n.645C>T (ACY1) | ||
| ENST00000637461.1:c.458C>T (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.776C>T (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1274C>T (ABHD14A-ACY1) | ENSP00000490319.1:n.*1274C>T | |
| ENST00000637696.1:c.*883C>T (ABHD14A-ACY1) | ENSP00000490554.1:n.*883C>T | |
| ENST00000637730.1:c.1144C>T (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1274C>T (ABHD14A-ACY1) | ENSP00000490052.1:n.*1274C>T | |
| ENST00000637978.1:c.1180C>T (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.417C>T (ACY1) | ||
| ENST00000638136.1:n.942C>T (ACY1) | ||
| ENST00000404366.6:c.611C>T (ACY1) | ENSP00000384296.2:p.Pro204Leu | |
| ENST00000463721.5:c.*522C>T (ABHD14A-ACY1) | ENSP00000417688.1:n.*522C>T | |
| ENST00000463937.1:c.914C>T (ABHD14A-ACY1) | ENSP00000420487.1:p.Pro305Leu | |
| ENST00000464587.1:n.297C>T (ACY1) | ||
| ENST00000465121.5:n.684C>T (ACY1) | ||
| ENST00000469863.1:c.638C>T (ACY1) | ENSP00000419830.1:p.Pro213Leu | |
| ENST00000476351.5:c.506C>T (ACY1) | ENSP00000417056.1:p.Pro169Leu | |
| ENST00000476854.5:c.611C>T (ACY1) | ENSP00000419262.1:p.Pro204Leu | |
| ENST00000491318.5:c.584-294C>T (ACY1) | ENSP00000418683.1:n.584-294C>T | |
| ENST00000494103.5:c.395C>T (ACY1) | ENSP00000417618.1:p.Pro132Leu | |
| NM_000666.2:c.611C>T (ACY1) | NP_000657.1:p.Pro204Leu | |
| NM_001198895.1:c.611C>T (ACY1) | NP_001185824.1:p.Pro204Leu | |
| NM_001198896.1:c.395C>T (ACY1) | NP_001185825.1:p.Pro132Leu | |
| NM_001198897.1:c.611C>T (ACY1) | NP_001185826.1:p.Pro204Leu | |
| NM_001198898.1:c.506C>T (ACY1) | NP_001185827.1:p.Pro169Leu | |
| NM_001316331.1:c.881C>T (ABHD14A-ACY1) | NP_001303260.1:p.Pro294Leu | |
| NM_000666.3:c.611C>T (ACY1) MANE Select | NP_000657.1:p.Pro204Leu | |
| NM_001198895.2:c.611C>T (ACY1) | NP_001185824.1:p.Pro204Leu | |
| NM_001198896.2:c.395C>T (ACY1) | NP_001185825.1:p.Pro132Leu | |
| NM_001198897.2:c.611C>T (ACY1) | NP_001185826.1:p.Pro204Leu | |
| NM_001198898.2:c.506C>T (ACY1) | NP_001185827.1:p.Pro169Leu | |
| NM_001316331.2:c.881C>T (ABHD14A-ACY1) | NP_001303260.1:p.Pro294Leu |