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.42410448C= , CM000677.2:g.42410448C= | GRCh38 |
| NC_000015.9:g.42702646C= , CM000677.1:g.42702646C= | GRCh37 |
| NC_000015.8:g.40489938C= | NCBI36 |
| NG_008660.1:g.67346C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337571.9:c.141C= | ENSP00000336840.4:p.Leu47= | |
| ENST00000349748.8:c.1860C= | ENSP00000183936.4:p.Leu620= | |
| ENST00000357568.8:c.2118C= | ENSP00000350181.3:p.Leu706= | |
| ENST00000397163.8:c.2136C= MANE Select | ENSP00000380349.3:p.Leu712= | |
| ENST00000397204.9:c.141C= | ENSP00000380387.4:p.Leu47= | |
| ENST00000466222.7:n.401C= | ||
| ENST00000466369.5:n.2627C= | ||
| ENST00000495723.1:n.3007C= | ||
| ENST00000549793.5:n.2349C= | ||
| ENST00000562199.2:c.140C= | ENSP00000501034.1:p.Ser47= | |
| ENST00000568153.2:c.2C= | ||
| ENST00000569136.6:c.141C= | ENSP00000455254.1:p.Leu47= | |
| ENST00000638141.2:n.1875C= | ||
| ENST00000673646.1:c.700C= | ENSP00000501007.1:n.700C= | |
| ENST00000673684.1:n.118C= | ||
| ENST00000673687.1:n.645C= | ||
| ENST00000673692.1:c.141C= | ENSP00000501138.1:p.Leu47= | |
| ENST00000673705.1:c.511-140C= | ENSP00000501021.1:n.511-140C= | |
| ENST00000673743.1:c.39C= | ENSP00000500989.1:p.Leu13= | |
| ENST00000673750.1:c.141C= | ENSP00000501173.1:p.Leu47= | |
| ENST00000673771.1:c.141C= | ENSP00000501023.1:p.Leu47= | |
| ENST00000673774.1:n.1269C= | ||
| ENST00000673839.1:c.141C= | ENSP00000501188.1:p.Leu47= | |
| ENST00000673851.1:c.141C= | ENSP00000501142.1:p.Leu47= | |
| ENST00000673854.1:n.5558C= | ||
| ENST00000673886.1:c.141C= | ENSP00000501155.1:p.Leu47= | |
| ENST00000673890.1:c.141C= | ENSP00000501293.1:p.Leu47= | |
| ENST00000673893.1:c.339C= | ENSP00000500987.1:n.339C= | |
| ENST00000673928.1:c.141C= | ENSP00000501099.1:p.Leu47= | |
| ENST00000673936.1:c.141C= | ENSP00000501189.1:p.Leu47= | |
| ENST00000673939.1:c.141C= | ENSP00000501129.1:p.Leu47= | |
| ENST00000673950.1:n.410C= | ||
| ENST00000673978.1:c.279C= | ENSP00000500976.1:p.Leu93= | |
| ENST00000673987.1:c.141C= | ENSP00000501231.1:p.Leu47= | |
| ENST00000674011.1:c.141C= | ENSP00000501171.1:p.Leu47= | |
| ENST00000674018.1:c.141C= | ENSP00000501271.1:p.Leu47= | |
| ENST00000674027.1:n.196C= | ||
| ENST00000674041.1:c.141C= | ENSP00000500956.1:p.Leu47= | |
| ENST00000674052.1:c.360C= | ENSP00000501057.1:p.Leu120= | |
| ENST00000674093.1:c.141C= | ENSP00000501303.1:p.Leu47= | |
| ENST00000674119.1:c.141C= | ENSP00000501217.1:p.Leu47= | |
| ENST00000674135.1:c.318C= | ENSP00000501178.1:p.Leu106= | |
| ENST00000674139.1:c.141C= | ENSP00000501054.1:p.Leu47= | |
| ENST00000674146.1:c.141C= | ENSP00000501175.1:p.Leu47= | |
| ENST00000674149.1:c.141C= | ENSP00000501112.1:p.Leu47= | |
| ENST00000318023.11:c.1992C= | ENSP00000326281.8:p.Leu664= | |
| ENST00000337571.8:c.141C= | ENSP00000336840.4:p.Leu47= | |
| ENST00000349748.7:c.1860C= | ENSP00000183936.4:p.Leu620= | |
| ENST00000356316.7:c.141C= | ENSP00000348667.4:p.Leu47= | |
| ENST00000357568.7:c.2118C= | ENSP00000350181.3:p.Leu706= | |
| ENST00000397163.7:c.2136C= | ENSP00000380349.3:p.Leu712= | |
| ENST00000397200.8:c.600C= | ENSP00000380384.4:p.Leu200= | |
| ENST00000397204.8:c.141C= | ENSP00000380387.4:p.Leu47= | |
| ENST00000466222.6:n.1059C= | ||
| ENST00000561817.5:c.141C= | ENSP00000456575.1:p.Leu47= | |
| ENST00000562199.1:n.140C= | ||
| ENST00000564503.5:c.233C= | ||
| ENST00000565274.5:c.368C= | ENSP00000457759.1:n.368C= | |
| ENST00000565559.5:c.318C= | ENSP00000457878.1:p.Leu106= | |
| ENST00000569136.5:c.141C= | ENSP00000455254.1:p.Leu47= | |
| ENST00000569827.5:c.468C= | ENSP00000454379.1:p.Leu156= | |
| NM_000070.2:c.2136C= | NP_000061.1:p.Leu712= | |
| NM_024344.1:c.2118C= | NP_077320.1:p.Leu706= | |
| NM_173087.1:c.1860C= | NP_775110.1:p.Leu620= | |
| NM_173088.1:c.600C= | NP_775111.1:p.Leu200= | |
| NM_173089.1:c.141C= | NP_775112.1:p.Leu47= | |
| NM_173090.1:c.141C= | NP_775113.1:p.Leu47= | |
| NM_000070.3:c.2136C= MANE Select | NP_000061.1:p.Leu712= | |
| NM_024344.2:c.2118C= | NP_077320.1:p.Leu706= | |
| NM_173087.2:c.1860C= | NP_775110.1:p.Leu620= | |
| NM_173088.2:c.600C= | NP_775111.1:p.Leu200= | |
| NM_173089.2:c.141C= | NP_775112.1:p.Leu47= | |
| NM_173090.2:c.141C= | NP_775113.1:p.Leu47= |