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_000015.10:g.42411308A= , CM000677.2:g.42411308A= | GRCh38 |
| NC_000015.9:g.42703506A= , CM000677.1:g.42703506A= | GRCh37 |
| NC_000015.8:g.40490798A= | NCBI36 |
| NG_008660.1:g.68206A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337571.9:c.407A= | ENSP00000336840.4:p.Lys136= | |
| ENST00000349748.8:c.2126A= | ENSP00000183936.4:p.Lys709= | |
| ENST00000357568.8:c.2384A= | ENSP00000350181.3:p.Lys795= | |
| ENST00000397163.8:c.2402A= MANE Select | ENSP00000380349.3:p.Lys801= | |
| ENST00000397204.9:c.407A= | ENSP00000380387.4:p.Lys136= | |
| ENST00000466222.7:n.773A= | ||
| ENST00000466369.5:n.2893A= | ||
| ENST00000495723.1:n.3273A= | ||
| ENST00000549793.5:n.2615A= | ||
| ENST00000562199.2:c.406A= | ENSP00000501034.1:n.406A= | |
| ENST00000567817.6:c.191A= | ENSP00000456514.2:p.Lys64= | |
| ENST00000568153.2:c.268A= | ||
| ENST00000569136.6:c.407A= | ENSP00000455254.1:p.Lys136= | |
| ENST00000638141.2:n.2141A= | ||
| ENST00000673646.1:c.966A= | ENSP00000501007.1:n.966A= | |
| ENST00000673684.1:n.384A= | ||
| ENST00000673692.1:c.407A= | ENSP00000501138.1:p.Lys136= | |
| ENST00000673705.1:c.1231A= | ENSP00000501021.1:n.1231A= | |
| ENST00000673743.1:c.305A= | ENSP00000500989.1:p.Lys102= | |
| ENST00000673750.1:c.407A= | ENSP00000501173.1:p.Lys136= | |
| ENST00000673771.1:c.407A= | ENSP00000501023.1:p.Lys136= | |
| ENST00000673774.1:n.1535A= | ||
| ENST00000673839.1:c.407A= | ENSP00000501188.1:p.Lys136= | |
| ENST00000673851.1:c.407A= | ENSP00000501142.1:p.Lys136= | |
| ENST00000673854.1:n.5824A= | ||
| ENST00000673886.1:c.407A= | ENSP00000501155.1:p.Lys136= | |
| ENST00000673890.1:c.407A= | ENSP00000501293.1:p.Lys136= | |
| ENST00000673928.1:c.407A= | ENSP00000501099.1:p.Lys136= | |
| ENST00000673936.1:c.407A= | ENSP00000501189.1:p.Lys136= | |
| ENST00000673939.1:c.*122A= | ENSP00000501129.1:n.*122A= | |
| ENST00000673950.1:n.676A= | ||
| ENST00000673978.1:c.545A= | ENSP00000500976.1:p.Lys182= | |
| ENST00000673987.1:c.*122A= | ENSP00000501231.1:n.*122A= | |
| ENST00000674011.1:c.*196A= | ENSP00000501171.1:n.*196A= | |
| ENST00000674018.1:c.407A= | ENSP00000501271.1:p.Lys136= | |
| ENST00000674027.1:n.553A= | ||
| ENST00000674041.1:c.407A= | ENSP00000500956.1:p.Lys136= | |
| ENST00000674052.1:c.626A= | ENSP00000501057.1:p.Lys209= | |
| ENST00000674093.1:c.407A= | ENSP00000501303.1:p.Lys136= | |
| ENST00000674119.1:c.407A= | ENSP00000501217.1:p.Lys136= | |
| ENST00000674135.1:c.584A= | ENSP00000501178.1:p.Lys195= | |
| ENST00000674139.1:c.407A= | ENSP00000501054.1:p.Lys136= | |
| ENST00000674146.1:c.407A= | ENSP00000501175.1:p.Lys136= | |
| ENST00000674149.1:c.407A= | ENSP00000501112.1:p.Lys136= | |
| ENST00000318023.11:c.2258A= | ENSP00000326281.8:p.Lys753= | |
| ENST00000337571.8:c.407A= | ENSP00000336840.4:p.Lys136= | |
| ENST00000349748.7:c.2126A= | ENSP00000183936.4:p.Lys709= | |
| ENST00000356316.7:c.407A= | ENSP00000348667.4:p.Lys136= | |
| ENST00000357568.7:c.2384A= | ENSP00000350181.3:p.Lys795= | |
| ENST00000397163.7:c.2402A= | ENSP00000380349.3:p.Lys801= | |
| ENST00000397200.8:c.866A= | ENSP00000380384.4:p.Lys289= | |
| ENST00000397204.8:c.407A= | ENSP00000380387.4:p.Lys136= | |
| ENST00000466222.6:n.1325A= | ||
| ENST00000561817.5:c.407A= | ENSP00000456575.1:p.Lys136= | |
| ENST00000564503.5:c.445A= | ||
| ENST00000565274.5:c.580A= | ENSP00000457759.1:n.580A= | |
| ENST00000567817.5:c.218A= | ENSP00000456514.1:p.Lys73= | |
| ENST00000568153.1:c.139A= | ||
| ENST00000569136.5:c.407A= | ENSP00000455254.1:p.Lys136= | |
| ENST00000569827.5:c.734A= | ENSP00000454379.1:p.Lys245= | |
| NM_000070.2:c.2402A= | NP_000061.1:p.Lys801= | |
| NM_024344.1:c.2384A= | NP_077320.1:p.Lys795= | |
| NM_173087.1:c.2126A= | NP_775110.1:p.Lys709= | |
| NM_173088.1:c.866A= | NP_775111.1:p.Lys289= | |
| NM_173089.1:c.407A= | NP_775112.1:p.Lys136= | |
| NM_173090.1:c.407A= | NP_775113.1:p.Lys136= | |
| NM_000070.3:c.2402A= MANE Select | NP_000061.1:p.Lys801= | |
| NM_024344.2:c.2384A= | NP_077320.1:p.Lys795= | |
| NM_173087.2:c.2126A= | NP_775110.1:p.Lys709= | |
| NM_173088.2:c.866A= | NP_775111.1:p.Lys289= | |
| NM_173089.2:c.407A= | NP_775112.1:p.Lys136= | |
| NM_173090.2:c.407A= | NP_775113.1:p.Lys136= |