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_000010.11:g.89014129G= , CM000672.2:g.89014129G= | GRCh38 |
| NC_000010.10:g.90773886G= , CM000672.1:g.90773886G= | GRCh37 |
| NC_000010.9:g.90763866G= | NCBI36 |
| NG_009089.2:g.28599G= , LRG_134:g.28599G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.996G= | ||
| ENST00000355740.8:c.*10G= | ENSP00000347979.3:n.*10G= | |
| ENST00000357339.7:c.624G= | ENSP00000349896.2:p.Leu208= | |
| ENST00000371857.8:n.2232G= | ||
| ENST00000460510.6:c.-31G= | ENSP00000512812.1:n.-31G= | |
| ENST00000466081.6:n.2336G= | ||
| ENST00000477270.6:c.732G= | ENSP00000512813.1:p.Leu244= | |
| ENST00000479522.6:c.*116G= | ENSP00000424113.1:n.*116G= | |
| ENST00000484444.6:c.*128G= | ENSP00000420975.1:n.*128G= | |
| ENST00000488877.6:c.578G= | ENSP00000425159.1:n.578G= | |
| ENST00000492756.7:c.*116G= | ENSP00000422453.1:n.*116G= | |
| ENST00000494799.6:c.-31G= | ENSP00000512834.1:n.-31G= | |
| ENST00000562983.3:c.-31G= | ENSP00000512845.1:n.-31G= | |
| ENST00000612663.6:c.*89G= | ENSP00000477997.3:n.*89G= | |
| ENST00000640140.2:n.832G= | ||
| ENST00000640250.2:n.186G= | ||
| ENST00000640681.2:n.791G= | ||
| ENST00000696723.1:n.4320G= | ||
| ENST00000696741.1:n.2325G= | ||
| ENST00000696742.1:n.2052G= | ||
| ENST00000696743.1:n.3455G= | ||
| ENST00000696744.1:n.726G= | ||
| ENST00000696767.1:n.1021G= | ||
| ENST00000696768.1:c.*10G= | ENSP00000512859.1:n.*10G= | |
| ENST00000696769.1:n.2376G= | ||
| ENST00000696771.1:c.-31G= | ENSP00000512860.1:n.-31G= | |
| ENST00000696772.1:n.2290G= | ||
| ENST00000696773.1:n.2029G= | ||
| ENST00000696774.1:n.5797G= | ||
| ENST00000696776.1:c.780G= | ENSP00000512861.1:p.Leu260= | |
| ENST00000696777.1:n.2095G= | ||
| ENST00000696778.1:n.1123G= | ||
| ENST00000696779.1:c.294G= | ENSP00000512862.1:p.Leu98= | |
| ENST00000696780.1:c.717G= | ENSP00000512863.1:p.Leu239= | |
| ENST00000696781.1:c.432G= | ENSP00000512864.1:p.Leu144= | |
| ENST00000696782.1:c.*89G= | ENSP00000512865.1:n.*89G= | |
| ENST00000696783.1:n.2555G= | ||
| ENST00000696992.1:n.1804G= | ||
| ENST00000696995.1:n.4216G= | ||
| ENST00000696996.1:n.2129G= | ||
| ENST00000696997.1:c.*317G= | ENSP00000513028.1:n.*317G= | |
| ENST00000696998.1:n.1941G= | ||
| ENST00000696999.1:c.-31G= | ENSP00000513029.1:n.-31G= | |
| ENST00000697035.1:c.*20G= | ENSP00000513059.1:n.*20G= | |
| ENST00000697036.1:c.*103G= | ENSP00000513060.1:n.*103G= | |
| ENST00000697037.1:n.722G= | ||
| ENST00000697093.1:n.2923G= | ||
| ENST00000697094.1:n.3270G= | ||
| ENST00000697095.1:c.*1888G= | ENSP00000513104.1:n.*1888G= | |
| ENST00000697096.1:n.1820G= | ||
| ENST00000697097.1:c.-31G= | ENSP00000513105.1:n.-31G= | |
| ENST00000562983.2:n.873G= | ||
| ENST00000690268.1:c.768G= | ENSP00000509810.1:p.Leu256= | |
| ENST00000355740.7:c.*13G= | ENSP00000347979.3:n.*13G= | |
| ENST00000612663.5:c.*89G= | ENSP00000477997.3:n.*89G= | |
| ENST00000640140.1:n.859G= | ||
| ENST00000640250.1:n.186G= | ||
| ENST00000640681.1:n.808G= | ||
| ENST00000652046.1:c.687G= MANE Select | ENSP00000498466.1:p.Leu229= | |
| ENST00000313771.9:n.996G= | ||
| ENST00000352159.8:c.*4G= | ENSP00000345601.4:n.*4G= | |
| ENST00000355279.2:c.662G= | ENSP00000347426.2:p.Ter221= | |
| ENST00000355740.6:c.687G= | ENSP00000347979.2:p.Leu229= | |
| ENST00000357339.6:c.624G= | ENSP00000349896.2:p.Leu208= | |
| ENST00000479522.5:c.*116G= | ENSP00000424113.1:n.*116G= | |
| ENST00000484444.5:c.*128G= | ENSP00000420975.1:n.*128G= | |
| ENST00000488877.5:c.*128G= | ENSP00000425159.1:n.*128G= | |
| ENST00000492756.5:c.515G= | ENSP00000422453.1:n.515G= | |
| ENST00000494410.5:c.*45G= | ENSP00000423755.1:n.*45G= | |
| ENST00000494799.5:n.594G= | ||
| ENST00000612663.4:c.*34G= | ENSP00000477997.2:n.*34G= | |
| ENST00000615406.4:c.687G= | ENSP00000484575.1:p.Leu229= | |
| ENST00000626542.2:c.687G= | ENSP00000485876.1:p.Leu229= | |
| NM_000043.4:c.687G= , LRG_134t1:c.687G= | NP_000034.1:p.Leu229= | |
| NM_152871.2:c.624G= | NP_690610.1:p.Leu208= | |
| NM_152872.2:c.662G= | NP_690611.1:p.Ter221= | |
| NR_028033.2:n.861G= | ||
| NR_028034.2:n.723G= | ||
| NR_028035.2:n.786G= | ||
| NR_028036.2:n.924G= | ||
| XM_006717819.2:c.768G= | XP_006717882.1:p.Leu256= | |
| XM_011539764.1:c.849G= | XP_011538066.1:p.Leu283= | |
| XM_011539765.1:c.786G= | XP_011538067.1:p.Leu262= | |
| XM_011539766.1:c.768G= | XP_011538068.1:p.Leu256= | |
| XM_011539767.1:c.732G= | XP_011538069.1:p.Leu244= | |
| XR_945732.1:n.755G= | ||
| XR_945733.1:n.692G= | ||
| NM_000043.5:c.687G= | NP_000034.1:p.Leu229= | |
| NM_001320619.1:c.*10G= | NP_001307548.1:n.*10G= | |
| NM_152871.3:c.624G= | NP_690610.1:p.Leu208= | |
| NM_152872.3:c.662G= | NP_690611.1:p.Ter221= | |
| NR_028033.3:n.833G= | ||
| NR_028034.3:n.695G= | ||
| NR_028035.3:n.758G= | ||
| NR_028036.3:n.896G= | ||
| NR_135313.1:n.813G= | ||
| NR_135314.1:n.996G= | ||
| NR_135315.1:n.749G= | ||
| XM_006717819.3:c.768G= | XP_006717882.1:p.Leu256= | |
| XM_011539764.2:c.849G= | XP_011538066.1:p.Leu283= | |
| XM_011539765.2:c.786G= | XP_011538067.1:p.Leu262= | |
| XM_011539766.2:c.768G= | XP_011538068.1:p.Leu256= | |
| XM_011539767.3:c.732G= | XP_011538069.1:p.Leu244= | |
| XR_945732.3:n.755G= | ||
| XR_945733.2:n.692G= | ||
| NM_000043.6:c.687G= MANE Select | NP_000034.1:p.Leu229= | |
| NM_001320619.2:c.*10G= | NP_001307548.1:n.*10G= | |
| NM_152871.4:c.624G= | NP_690610.1:p.Leu208= | |
| NM_152872.4:c.662G= | NP_690611.1:p.Ter221= | |
| NR_028033.4:n.594G= | ||
| NR_028034.4:n.456G= | ||
| NR_028035.4:n.519G= | ||
| NR_028036.4:n.657G= | ||
| NR_135313.2:n.574G= | ||
| NR_135314.2:n.853G= | ||
| NR_135315.2:n.606G= |