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_000008.11:g.74364181C= , CM000670.2:g.74364181C= | GRCh38 |
| NC_000008.10:g.75276416C= , CM000670.1:g.75276416C= | GRCh37 |
| NC_000008.9:g.75438971C= | NCBI36 |
| NG_008787.2:g.48052C= | |
| NG_008787.3:g.48052C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220822.12:c.891C= MANE Select | ENSP00000220822.7:p.Asn297= | |
| ENST00000434412.3:c.759C= | ENSP00000417006.3:p.Asn253= | |
| ENST00000520797.6:n.1002C= | ||
| ENST00000521096.6:n.747C= | ||
| ENST00000522568.2:c.*545+18C= | ENSP00000430136.1:n.*545+18C= | |
| ENST00000523640.2:c.165+12860C= | ENSP00000502017.1:n.165+12860C= | |
| ENST00000524195.2:c.280+1128C= | ENSP00000502308.1:n.280+1128C= | |
| ENST00000674612.1:c.564C= | ENSP00000501864.1:p.Asn188= | |
| ENST00000674710.1:c.694+1128C= | ENSP00000502762.1:n.694+1128C= | |
| ENST00000674754.1:c.*2454C= | ENSP00000502063.1:n.*2454C= | |
| ENST00000674756.1:c.*366+1128C= | ENSP00000501860.1:n.*366+1128C= | |
| ENST00000674806.1:c.564C= | ENSP00000502637.1:p.Asn188= | |
| ENST00000674865.1:c.687C= | ENSP00000502437.1:p.Asn229= | |
| ENST00000674926.1:c.*1523C= | ENSP00000501799.1:n.*1523C= | |
| ENST00000674934.1:c.*579C= | ENSP00000502187.1:n.*579C= | |
| ENST00000674944.1:c.*1494C= | ENSP00000501858.1:n.*1494C= | |
| ENST00000674946.1:c.694+1128C= | ENSP00000501569.1:n.694+1128C= | |
| ENST00000674973.1:c.585C= | ENSP00000502447.1:p.Asn195= | |
| ENST00000675007.1:c.*629C= | ENSP00000502119.1:n.*629C= | |
| ENST00000675060.1:c.*556C= | ENSP00000501616.1:n.*556C= | |
| ENST00000675165.1:c.888C= | ENSP00000502612.1:p.Asn296= | |
| ENST00000675220.1:c.564C= | ENSP00000502588.1:p.Asn188= | |
| ENST00000675265.1:c.*641C= | ENSP00000501848.1:n.*641C= | |
| ENST00000675336.1:c.*377C= | ENSP00000502120.1:n.*377C= | |
| ENST00000675376.1:c.564C= | ENSP00000502838.1:p.Asn188= | |
| ENST00000675463.1:c.969C= | ENSP00000502327.1:p.Asn323= | |
| ENST00000675472.1:c.*377C= | ENSP00000501946.1:n.*377C= | |
| ENST00000675474.1:n.476C= | ||
| ENST00000675560.1:c.*366+1128C= | ENSP00000502118.1:n.*366+1128C= | |
| ENST00000675625.1:c.*563C= | ENSP00000501626.1:n.*563C= | |
| ENST00000675633.1:c.*298C= | ENSP00000501785.1:n.*298C= | |
| ENST00000675661.1:c.*651C= | ENSP00000501958.1:n.*651C= | |
| ENST00000675706.1:n.2849C= | ||
| ENST00000675821.1:c.564C= | ENSP00000502198.1:p.Asn188= | |
| ENST00000675832.1:c.*563C= | ENSP00000502041.1:n.*563C= | |
| ENST00000675928.1:c.717C= | ENSP00000501568.1:p.Asn239= | |
| ENST00000675944.1:c.687C= | ENSP00000502673.1:p.Asn229= | |
| ENST00000675999.1:c.694+1128C= | ENSP00000502572.1:n.694+1128C= | |
| ENST00000676049.1:c.*793C= | ENSP00000501912.1:n.*793C= | |
| ENST00000676112.1:c.957C= | ENSP00000502295.1:p.Asn319= | |
| ENST00000676143.1:c.564C= | ENSP00000502828.1:p.Asn188= | |
| ENST00000676207.1:c.694+1128C= | ENSP00000502638.1:n.694+1128C= | |
| ENST00000676377.1:c.564C= | ENSP00000502756.1:p.Asn188= | |
| ENST00000676415.1:c.*197C= | ENSP00000502665.1:n.*197C= | |
| ENST00000676443.1:c.843C= | ENSP00000501769.1:p.Asn281= | |
| ENST00000220822.11:c.891C= | ENSP00000220822.7:p.Asn297= | |
| ENST00000434412.2:c.687C= | ENSP00000417006.2:p.Asn229= | |
| ENST00000520797.5:n.656C= | ||
| ENST00000521096.5:n.697C= | ||
| ENST00000522568.1:c.*563C= | ENSP00000430136.1:n.*563C= | |
| ENST00000524195.1:n.103+1128C= | ||
| NM_001040875.2:c.687C= | NP_001035808.1:p.Asn229= | |
| NM_018972.2:c.891C= | NP_061845.2:p.Asn297= | |
| NR_046346.1:n.825C= | ||
| XM_011517551.1:c.1185C= | XP_011515853.1:p.Asn395= | |
| XM_011517552.1:c.564C= | XP_011515854.1:p.Asn188= | |
| NM_001040875.3:c.687C= | NP_001035808.1:p.Asn229= | |
| NM_001362929.1:c.564C= | NP_001349858.1:p.Asn188= | |
| NM_001362930.1:c.717C= | NP_001349859.1:p.Asn239= | |
| NM_001362931.1:c.694+1128C= | NP_001349860.1:n.694+1128C= | |
| NM_001362932.1:c.564C= | NP_001349861.1:p.Asn188= | |
| NM_018972.3:c.891C= | NP_061845.2:p.Asn297= | |
| NM_001362931.2:c.694+1128C= | NP_001349860.1:n.694+1128C= | |
| NM_018972.4:c.891C= MANE Select | NP_061845.2:p.Asn297= | |
| NM_001040875.4:c.687C= | NP_001035808.1:p.Asn229= | |
| NM_001362929.2:c.564C= | NP_001349858.1:p.Asn188= | |
| NM_001362930.2:c.717C= | NP_001349859.1:p.Asn239= | |
| NM_001362932.2:c.564C= | NP_001349861.1:p.Asn188= |