WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014191G>C , CM000672.2:g.89014191G>C | GRCh38 |
| NC_000010.10:g.90773948G>C , CM000672.1:g.90773948G>C | GRCh37 |
| NC_000010.9:g.90763928G>C | NCBI36 |
| NG_009089.2:g.28661G>C , LRG_134:g.28661G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.1058G>C | ||
| ENST00000355740.8:c.*72G>C | ENSP00000347979.3:n.*72G>C | |
| ENST00000357339.7:c.686G>C | ENSP00000349896.2:p.Arg229Pro | |
| ENST00000371857.8:n.2294G>C | ||
| ENST00000460510.6:c.32G>C | ENSP00000512812.1:p.Arg11Pro | |
| ENST00000466081.6:n.2398G>C | ||
| ENST00000477270.6:c.794G>C | ENSP00000512813.1:p.Arg265Pro | |
| ENST00000479522.6:c.*178G>C | ENSP00000424113.1:n.*178G>C | |
| ENST00000484444.6:c.*190G>C | ENSP00000420975.1:n.*190G>C | |
| ENST00000488877.6:c.640G>C | ENSP00000425159.1:n.640G>C | |
| ENST00000492756.7:c.*178G>C | ENSP00000422453.1:n.*178G>C | |
| ENST00000494799.6:c.32G>C | ENSP00000512834.1:p.Arg11Pro | |
| ENST00000562983.3:c.32G>C | ENSP00000512845.1:p.Arg11Pro | |
| ENST00000612663.6:c.*151G>C | ENSP00000477997.3:n.*151G>C | |
| ENST00000640140.2:n.894G>C | ||
| ENST00000640250.2:n.248G>C | ||
| ENST00000640681.2:n.853G>C | ||
| ENST00000696723.1:n.4382G>C | ||
| ENST00000696741.1:n.2387G>C | ||
| ENST00000696742.1:n.2114G>C | ||
| ENST00000696743.1:n.3517G>C | ||
| ENST00000696744.1:n.788G>C | ||
| ENST00000696767.1:n.1083G>C | ||
| ENST00000696768.1:c.*72G>C | ENSP00000512859.1:n.*72G>C | |
| ENST00000696769.1:n.2438G>C | ||
| ENST00000696771.1:c.32G>C | ENSP00000512860.1:p.Arg11Pro | |
| ENST00000696772.1:n.2352G>C | ||
| ENST00000696773.1:n.2091G>C | ||
| ENST00000696774.1:n.5859G>C | ||
| ENST00000696776.1:c.842G>C | ENSP00000512861.1:p.Arg281Pro | |
| ENST00000696777.1:n.2157G>C | ||
| ENST00000696778.1:n.1185G>C | ||
| ENST00000696779.1:c.356G>C | ENSP00000512862.1:p.Arg119Pro | |
| ENST00000696780.1:c.779G>C | ENSP00000512863.1:p.Arg260Pro | |
| ENST00000696781.1:c.494G>C | ENSP00000512864.1:p.Arg165Pro | |
| ENST00000696782.1:c.*151G>C | ENSP00000512865.1:n.*151G>C | |
| ENST00000696783.1:n.2617G>C | ||
| ENST00000696992.1:n.1866G>C | ||
| ENST00000696995.1:n.4278G>C | ||
| ENST00000696996.1:n.2191G>C | ||
| ENST00000696997.1:c.*379G>C | ENSP00000513028.1:n.*379G>C | |
| ENST00000696998.1:n.2003G>C | ||
| ENST00000696999.1:c.32G>C | ENSP00000513029.1:p.Arg11Pro | |
| ENST00000697035.1:c.*82G>C | ENSP00000513059.1:n.*82G>C | |
| ENST00000697036.1:c.*165G>C | ENSP00000513060.1:n.*165G>C | |
| ENST00000697037.1:n.784G>C | ||
| ENST00000697093.1:n.2985G>C | ||
| ENST00000697094.1:n.3332G>C | ||
| ENST00000697095.1:c.*1950G>C | ENSP00000513104.1:n.*1950G>C | |
| ENST00000697096.1:n.1882G>C | ||
| ENST00000697097.1:c.32G>C | ENSP00000513105.1:p.Arg11Pro | |
| ENST00000562983.2:n.935G>C | ||
| ENST00000690268.1:c.830G>C | ENSP00000509810.1:p.Arg277Pro | |
| ENST00000355740.7:c.*75G>C | ENSP00000347979.3:n.*75G>C | |
| ENST00000612663.5:c.*151G>C | ENSP00000477997.3:n.*151G>C | |
| ENST00000640140.1:n.921G>C | ||
| ENST00000640250.1:n.248G>C | ||
| ENST00000640681.1:n.870G>C | ||
| ENST00000652046.1:c.749G>C MANE Select | ENSP00000498466.1:p.Arg250Pro | |
| ENST00000352159.8:c.*66G>C | ENSP00000345601.4:n.*66G>C | |
| ENST00000355279.2:c.724G>C | ENSP00000347426.2:n.724G>C | |
| ENST00000355740.6:c.749G>C | ENSP00000347979.2:p.Arg250Pro | |
| ENST00000357339.6:c.686G>C | ENSP00000349896.2:p.Arg229Pro | |
| ENST00000479522.5:c.*178G>C | ENSP00000424113.1:n.*178G>C | |
| ENST00000484444.5:c.*190G>C | ENSP00000420975.1:n.*190G>C | |
| ENST00000488877.5:c.*190G>C | ENSP00000425159.1:n.*190G>C | |
| ENST00000492756.5:c.577G>C | ENSP00000422453.1:n.577G>C | |
| ENST00000494410.5:c.*107G>C | ENSP00000423755.1:n.*107G>C | |
| ENST00000494799.5:n.656G>C | ||
| ENST00000612663.4:c.*96G>C | ENSP00000477997.2:n.*96G>C | |
| ENST00000615406.4:c.749G>C | ENSP00000484575.1:p.Arg250Pro | |
| NM_000043.4:c.749G>C , LRG_134t1:c.749G>C | NP_000034.1:p.Arg250Pro | |
| NM_152871.2:c.686G>C | NP_690610.1:p.Arg229Pro | |
| NM_152872.2:c.*61G>C | NP_690611.1:n.*61G>C | |
| NR_028033.2:n.923G>C | ||
| NR_028034.2:n.785G>C | ||
| NR_028035.2:n.848G>C | ||
| NR_028036.2:n.986G>C | ||
| XM_006717819.2:c.830G>C | XP_006717882.1:p.Arg277Pro | |
| XM_011539764.1:c.911G>C | XP_011538066.1:p.Arg304Pro | |
| XM_011539765.1:c.848G>C | XP_011538067.1:p.Arg283Pro | |
| XM_011539766.1:c.830G>C | XP_011538068.1:p.Arg277Pro | |
| XM_011539767.1:c.794G>C | XP_011538069.1:p.Arg265Pro | |
| XR_945732.1:n.817G>C | ||
| XR_945733.1:n.754G>C | ||
| NM_000043.5:c.749G>C | NP_000034.1:p.Arg250Pro | |
| NM_001320619.1:c.*72G>C | NP_001307548.1:n.*72G>C | |
| NM_152871.3:c.686G>C | NP_690610.1:p.Arg229Pro | |
| NM_152872.3:c.*61G>C | NP_690611.1:n.*61G>C | |
| NR_028033.3:n.895G>C | ||
| NR_028034.3:n.757G>C | ||
| NR_028035.3:n.820G>C | ||
| NR_028036.3:n.958G>C | ||
| NR_135313.1:n.875G>C | ||
| NR_135314.1:n.1058G>C | ||
| NR_135315.1:n.811G>C | ||
| XM_006717819.3:c.830G>C | XP_006717882.1:p.Arg277Pro | |
| XM_011539764.2:c.911G>C | XP_011538066.1:p.Arg304Pro | |
| XM_011539765.2:c.848G>C | XP_011538067.1:p.Arg283Pro | |
| XM_011539766.2:c.830G>C | XP_011538068.1:p.Arg277Pro | |
| XM_011539767.3:c.794G>C | XP_011538069.1:p.Arg265Pro | |
| XR_945732.3:n.817G>C | ||
| XR_945733.2:n.754G>C | ||
| NM_000043.6:c.749G>C MANE Select | NP_000034.1:p.Arg250Pro | |
| NM_001320619.2:c.*72G>C | NP_001307548.1:n.*72G>C | |
| NM_152871.4:c.686G>C | NP_690610.1:p.Arg229Pro | |
| NM_152872.4:c.*61G>C | NP_690611.1:n.*61G>C | |
| NR_028033.4:n.656G>C | ||
| NR_028034.4:n.518G>C | ||
| NR_028035.4:n.581G>C | ||
| NR_028036.4:n.719G>C | ||
| NR_135313.2:n.636G>C | ||
| NR_135314.2:n.915G>C | ||
| NR_135315.2:n.668G>C |