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_000007.14:g.92077734T= , CM000669.2:g.92077734T= | GRCh38 |
| NC_000007.13:g.91707048T= , CM000669.1:g.91707048T= | GRCh37 |
| NC_000007.12:g.91544984T= | NCBI36 |
| NG_011623.1:g.141860T= , LRG_331:g.141860T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356239.8:c.6804T= MANE Select | ENSP00000348573.3:p.Ser2268= | |
| ENST00000359028.7:c.6876T= | ENSP00000351922.4:p.Ser2292= | |
| ENST00000394534.7:c.297T= | ENSP00000378042.3:p.Ser99= | |
| ENST00000491695.2:c.1449T= | ENSP00000494626.2:p.Ser483= | |
| ENST00000674381.2:c.*6533T= | ENSP00000501536.2:n.*6533T= | |
| ENST00000679448.1:c.6780T= | ENSP00000505889.1:p.Ser2260= | |
| ENST00000679457.1:c.6780T= | ENSP00000505450.1:p.Ser2260= | |
| ENST00000679474.1:n.7002T= | ||
| ENST00000679521.1:c.6750T= | ENSP00000505456.1:p.Ser2250= | |
| ENST00000679554.1:c.*6589T= | ENSP00000506415.1:n.*6589T= | |
| ENST00000679722.1:n.7026T= | ||
| ENST00000679821.1:c.6546T= | ENSP00000506040.1:p.Ser2182= | |
| ENST00000680047.1:n.7002T= | ||
| ENST00000680072.1:c.6627T= | ENSP00000506581.1:p.Ser2209= | |
| ENST00000680181.1:c.6711T= | ENSP00000505548.1:p.Ser2237= | |
| ENST00000680365.1:c.297T= | ENSP00000506019.1:p.Ser99= | |
| ENST00000680513.1:c.6663T= | ENSP00000505284.1:p.Ser2221= | |
| ENST00000680534.1:c.6843T= | ENSP00000506674.1:p.Ser2281= | |
| ENST00000680766.1:c.6780T= | ENSP00000505204.1:p.Ser2260= | |
| ENST00000680952.1:c.6780T= | ENSP00000506407.1:p.Ser2260= | |
| ENST00000681216.1:c.297T= | ENSP00000505551.1:p.Ser99= | |
| ENST00000681412.1:c.6804T= | ENSP00000506486.1:p.Ser2268= | |
| ENST00000681722.1:c.6780T= | ENSP00000506566.1:p.Ser2260= | |
| ENST00000356239.7:c.6804T= | ENSP00000348573.3:p.Ser2268= | |
| ENST00000358100.6:c.6663T= | ENSP00000350813.3:p.Ser2221= | |
| ENST00000359028.6:c.6837T= | ENSP00000351922.3:p.Ser2279= | |
| ENST00000394534.6:c.342T= | ENSP00000378042.2:p.Ser114= | |
| NM_005751.4:c.6804T= , LRG_331t1:c.6804T= | NP_005742.4:p.Ser2268= | |
| NM_147185.2:c.6780T= | NP_671714.1:p.Ser2260= | |
| XM_006715827.1:c.6663T= | XP_006715890.1:p.Ser2221= | |
| XM_011515709.1:c.6951T= | XP_011514011.1:p.Ser2317= | |
| XM_011515710.1:c.6975T= | XP_011514012.1:p.Ser2325= | |
| XM_011515711.1:c.6915T= | XP_011514013.1:p.Ser2305= | |
| XM_011515712.1:c.6912T= | XP_011514014.1:p.Ser2304= | |
| XM_011515713.1:c.6897T= | XP_011514015.1:p.Ser2299= | |
| XM_011515714.1:c.6936T= | XP_011514016.1:p.Ser2312= | |
| XM_011515716.1:c.6855T= | XP_011514018.1:p.Ser2285= | |
| XM_011515717.1:c.6810T= | XP_011514019.1:p.Ser2270= | |
| XM_011515718.1:c.6840T= | XP_011514020.1:p.Ser2280= | |
| XM_011515719.1:c.6816T= | XP_011514021.1:p.Ser2272= | |
| XM_011515720.1:c.6699T= | XP_011514022.1:p.Ser2233= | |
| XM_011515721.1:c.1464T= | XP_011514023.1:p.Ser488= | |
| XM_011515722.1:c.1425T= | XP_011514024.1:p.Ser475= | |
| XM_017011642.2:c.6939T= | XP_016867131.1:p.Ser2313= | |
| XM_017011643.2:c.6900T= | XP_016867132.1:p.Ser2300= | |
| XM_017011644.2:c.6939T= | XP_016867133.1:p.Ser2313= | |
| XM_017011645.2:c.6885T= | XP_016867134.1:p.Ser2295= | |
| XM_017011646.2:c.6900T= | XP_016867135.1:p.Ser2300= | |
| XM_017011647.2:c.6846T= | XP_016867136.1:p.Ser2282= | |
| XM_017011648.2:c.6843T= | XP_016867137.1:p.Ser2281= | |
| XM_017011649.2:c.6876T= | XP_016867138.1:p.Ser2292= | |
| XM_017011650.2:c.6804T= | XP_016867139.1:p.Ser2268= | |
| XM_017011651.2:c.6798T= | XP_016867140.1:p.Ser2266= | |
| XM_017011652.2:c.6939T= | XP_016867141.1:p.Ser2313= | |
| XM_017011653.2:c.6711T= | XP_016867142.1:p.Ser2237= | |
| XM_017011654.2:c.6663T= | XP_016867143.1:p.Ser2221= | |
| XM_017011655.2:c.6567T= | XP_016867144.1:p.Ser2189= | |
| XM_017011656.2:c.6567T= | XP_016867145.1:p.Ser2189= | |
| XM_017011657.2:c.2604T= | XP_016867146.1:p.Ser868= | |
| XM_017011658.2:c.1488T= | XP_016867147.1:p.Ser496= | |
| XM_017011659.2:c.1449T= | XP_016867148.1:p.Ser483= | |
| XM_017011660.2:c.1449T= | XP_016867149.1:p.Ser483= | |
| XM_024446631.1:c.6702T= | XP_024302399.1:p.Ser2234= | |
| NM_147185.3:c.6780T= | NP_671714.1:p.Ser2260= | |
| NM_001379277.1:c.1449T= | NP_001366206.1:p.Ser483= | |
| NM_005751.5:c.6804T= MANE Select | NP_005742.4:p.Ser2268= |