Linked Data
ClinVar Variation Id:
18110
dbSNP Id:
rs121912698
ExAC:
3:52022837 C / T
gnomAD v2:
3-52022837-C-T
gnomAD v3:
3-51988821-C-T
gnomAD v4:
3-51988821-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51988821C>T , CM000665.2:g.51988821C>T | GRCh38 |
| NC_000003.11:g.52022837C>T , CM000665.1:g.52022837C>T | GRCh37 |
| NC_000003.10:g.51997877C>T | NCBI36 |
| NG_012036.1:g.10275C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404366.7:c.1057C>T (ACY1) | ENSP00000384296.2:p.Arg353Cys | |
| ENST00000490244.2:n.520C>T (ACY1) | ||
| ENST00000635797.1:c.952C>T (ACY1) | ENSP00000490007.1:p.Arg318Cys | |
| ENST00000635937.1:c.*2325C>T (ABHD14A-ACY1) | ENSP00000489887.1:n.*2325C>T | |
| ENST00000635941.1:c.1443C>T (ACY1) | ENSP00000490309.1:n.1443C>T | |
| ENST00000635946.1:c.*1628C>T (ABHD14A-ACY1) | ENSP00000490284.1:n.*1628C>T | |
| ENST00000635951.1:c.*1329C>T (ABHD14A-ACY1) | ENSP00000490649.1:n.*1329C>T | |
| ENST00000636089.1:c.*1394C>T (ABHD14A-ACY1) | ENSP00000490657.1:n.*1394C>T | |
| ENST00000636358.2:c.1057C>T (ACY1) MANE Select | ENSP00000490149.1:p.Arg353Cys | |
| ENST00000636490.1:c.*2293C>T (ABHD14A-ACY1) | ENSP00000490575.1:n.*2293C>T | |
| ENST00000636646.1:c.*1294C>T (ABHD14A-ACY1) | ENSP00000490688.1:n.*1294C>T | |
| ENST00000636660.1:c.1020C>T (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1669C>T (ABHD14A-ACY1) | ENSP00000490429.1:n.*1669C>T | |
| ENST00000636826.1:c.*2101C>T (ABHD14A-ACY1) | ENSP00000489721.1:n.*2101C>T | |
| ENST00000636880.1:c.*767C>T (ACY1) | ENSP00000489947.1:n.*767C>T | |
| ENST00000636942.1:c.*938C>T (ABHD14A-ACY1) | ENSP00000490848.1:n.*938C>T | |
| ENST00000637025.1:c.*2291C>T (ABHD14A-ACY1) | ENSP00000490236.1:n.*2291C>T | |
| ENST00000637034.1:n.490C>T (ACY1) | ||
| ENST00000637130.1:c.*2289C>T (ABHD14A-ACY1) | ENSP00000490887.1:n.*2289C>T | |
| ENST00000637149.1:c.148C>T (ACY1) | ||
| ENST00000637199.1:n.530C>T (ACY1) | ||
| ENST00000637512.1:c.1307C>T (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1917C>T (ABHD14A-ACY1) | ENSP00000490319.1:n.*1917C>T | |
| ENST00000637696.1:c.*1526C>T (ABHD14A-ACY1) | ENSP00000490554.1:n.*1526C>T | |
| ENST00000637730.1:c.2489C>T (ABHD14A-ACY1) | ||
| ENST00000637746.1:n.430C>T (ACY1) | ||
| ENST00000637778.1:c.*2816C>T (ABHD14A-ACY1) | ENSP00000490052.1:n.*2816C>T | |
| ENST00000637978.1:c.1626C>T (ABHD14A-ACY1) | ||
| ENST00000638077.1:n.187C>T (ACY1) | ||
| ENST00000638136.1:n.1585C>T (ACY1) | ||
| ENST00000404366.6:c.1057C>T (ACY1) | ENSP00000384296.2:p.Arg353Cys | |
| ENST00000463721.5:c.*968C>T (ABHD14A-ACY1) | ENSP00000417688.1:n.*968C>T | |
| ENST00000463937.1:c.1360C>T (ABHD14A-ACY1) | ENSP00000420487.1:p.Arg454Cys | |
| ENST00000476351.5:c.952C>T (ACY1) | ENSP00000417056.1:p.Arg318Cys | |
| ENST00000476854.5:c.862C>T (ACY1) | ENSP00000419262.1:p.Arg288Cys | |
| ENST00000490244.1:n.520C>T (ACY1) | ||
| ENST00000491318.5:c.*327C>T (ACY1) | ENSP00000418683.1:n.*327C>T | |
| ENST00000494103.5:c.841C>T (ACY1) | ENSP00000417618.1:p.Arg281Cys | |
| NM_000666.2:c.1057C>T (ACY1) | NP_000657.1:p.Arg353Cys | |
| NM_001198895.1:c.1057C>T (ACY1) | NP_001185824.1:p.Arg353Cys | |
| NM_001198896.1:c.841C>T (ACY1) | NP_001185825.1:p.Arg281Cys | |
| NM_001198897.1:c.862C>T (ACY1) | NP_001185826.1:p.Arg288Cys | |
| NM_001198898.1:c.952C>T (ACY1) | NP_001185827.1:p.Arg318Cys | |
| NM_001316331.1:c.1327C>T (ABHD14A-ACY1) | NP_001303260.1:p.Arg443Cys | |
| NM_000666.3:c.1057C>T (ACY1) MANE Select | NP_000657.1:p.Arg353Cys | |
| NM_001198895.2:c.1057C>T (ACY1) | NP_001185824.1:p.Arg353Cys | |
| NM_001198896.2:c.841C>T (ACY1) | NP_001185825.1:p.Arg281Cys | |
| NM_001198897.2:c.862C>T (ACY1) | NP_001185826.1:p.Arg288Cys | |
| NM_001198898.2:c.952C>T (ACY1) | NP_001185827.1:p.Arg318Cys | |
| NM_001316331.2:c.1327C>T (ABHD14A-ACY1) | NP_001303260.1:p.Arg443Cys |