UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987113G= , CM000665.2:g.51987113G= | GRCh38 |
| NC_000003.11:g.52021129G= , CM000665.1:g.52021129G= | GRCh37 |
| NC_000003.10:g.51996169G= | NCBI36 |
| NG_012036.1:g.8567G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404366.7:c.658-34G= (ACY1) | ENSP00000384296.2:n.658-34G= | |
| ENST00000464587.2:n.344-34G= (ACY1) | ||
| ENST00000486081.6:c.*504-34G= (ABHD14A-ACY1) | ENSP00000420395.1:n.*504-34G= | |
| ENST00000635785.1:c.887+52G= (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.553-34G= (ACY1) | ENSP00000490007.1:n.553-34G= | |
| ENST00000635937.1:c.*881G= (ABHD14A-ACY1) | ENSP00000489887.1:n.*881G= | |
| ENST00000635941.1:c.898G= (ACY1) | ENSP00000490309.1:n.898G= | |
| ENST00000635946.1:c.*981G= (ABHD14A-ACY1) | ENSP00000490284.1:n.*981G= | |
| ENST00000635951.1:c.*930-34G= (ABHD14A-ACY1) | ENSP00000490649.1:n.*930-34G= | |
| ENST00000635952.1:c.745-34G= (ABHD14A-ACY1) | ENSP00000490434.1:n.745-34G= | |
| ENST00000636085.1:c.*555G= (ABHD14A-ACY1) | ENSP00000489981.1:n.*555G= | |
| ENST00000636089.1:c.*995-34G= (ABHD14A-ACY1) | ENSP00000490657.1:n.*995-34G= | |
| ENST00000636358.2:c.658-34G= (ACY1) MANE Select | ENSP00000490149.1:n.658-34G= | |
| ENST00000636490.1:c.*995-34G= (ABHD14A-ACY1) | ENSP00000490575.1:n.*995-34G= | |
| ENST00000636556.1:c.*603-34G= (ACY1) | ENSP00000490500.1:n.*603-34G= | |
| ENST00000636646.1:c.*895-34G= (ABHD14A-ACY1) | ENSP00000490688.1:n.*895-34G= | |
| ENST00000636660.1:c.587G= (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1236G= (ABHD14A-ACY1) | ENSP00000490429.1:n.*1236G= | |
| ENST00000636826.1:c.*555G= (ABHD14A-ACY1) | ENSP00000489721.1:n.*555G= | |
| ENST00000636880.1:c.*368-34G= (ACY1) | ENSP00000489947.1:n.*368-34G= | |
| ENST00000636942.1:c.*539-34G= (ABHD14A-ACY1) | ENSP00000490848.1:n.*539-34G= | |
| ENST00000637025.1:c.*745G= (ABHD14A-ACY1) | ENSP00000490236.1:n.*745G= | |
| ENST00000637034.1:n.57G= (ACY1) | ||
| ENST00000637130.1:c.*845G= (ABHD14A-ACY1) | ENSP00000490887.1:n.*845G= | |
| ENST00000637199.1:n.131-34G= (ACY1) | ||
| ENST00000637209.1:c.*368-34G= (ACY1) | ENSP00000490708.1:n.*368-34G= | |
| ENST00000637222.1:c.658-34G= (ABHD14A-ACY1) | ENSP00000490353.1:n.658-34G= | |
| ENST00000637349.1:c.*220+52G= (ACY1) | ENSP00000489688.1:n.*220+52G= | |
| ENST00000637460.1:n.692-34G= (ACY1) | ||
| ENST00000637461.1:c.556G= (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.874G= (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1372G= (ABHD14A-ACY1) | ENSP00000490319.1:n.*1372G= | |
| ENST00000637696.1:c.*981G= (ABHD14A-ACY1) | ENSP00000490554.1:n.*981G= | |
| ENST00000637730.1:c.1191-34G= (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1372G= (ABHD14A-ACY1) | ENSP00000490052.1:n.*1372G= | |
| ENST00000637978.1:c.1227-34G= (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.515G= (ACY1) | ||
| ENST00000638136.1:n.1040G= (ACY1) | ||
| ENST00000404366.6:c.658-34G= (ACY1) | ENSP00000384296.2:n.658-34G= | |
| ENST00000463721.5:c.*569-34G= (ABHD14A-ACY1) | ENSP00000417688.1:n.*569-34G= | |
| ENST00000463937.1:c.961-34G= (ABHD14A-ACY1) | ENSP00000420487.1:n.961-34G= | |
| ENST00000464587.1:n.344-34G= (ACY1) | ||
| ENST00000465121.5:n.731-34G= (ACY1) | ||
| ENST00000476351.5:c.553-34G= (ACY1) | ENSP00000417056.1:n.553-34G= | |
| ENST00000476854.5:c.657+52G= (ACY1) | ENSP00000419262.1:n.657+52G= | |
| ENST00000491318.5:c.584-196G= (ACY1) | ENSP00000418683.1:n.584-196G= | |
| ENST00000494103.5:c.442-34G= (ACY1) | ENSP00000417618.1:n.442-34G= | |
| NM_000666.2:c.658-34G= (ACY1) | NP_000657.1:n.658-34G= | |
| NM_001198895.1:c.658-34G= (ACY1) | NP_001185824.1:n.658-34G= | |
| NM_001198896.1:c.442-34G= (ACY1) | NP_001185825.1:n.442-34G= | |
| NM_001198897.1:c.657+52G= (ACY1) | NP_001185826.1:n.657+52G= | |
| NM_001198898.1:c.553-34G= (ACY1) | NP_001185827.1:n.553-34G= | |
| NM_001316331.1:c.928-34G= (ABHD14A-ACY1) | NP_001303260.1:n.928-34G= | |
| NM_000666.3:c.658-34G= (ACY1) MANE Select | NP_000657.1:n.658-34G= | |
| NM_001198895.2:c.658-34G= (ACY1) | NP_001185824.1:n.658-34G= | |
| NM_001198896.2:c.442-34G= (ACY1) | NP_001185825.1:n.442-34G= | |
| NM_001198897.2:c.657+52G= (ACY1) | NP_001185826.1:n.657+52G= | |
| NM_001198898.2:c.553-34G= (ACY1) | NP_001185827.1:n.553-34G= | |
| NM_001316331.2:c.928-34G= (ABHD14A-ACY1) | NP_001303260.1:n.928-34G= |