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.89014122T= , CM000672.2:g.89014122T= | GRCh38 |
| NC_000010.10:g.90773879T= , CM000672.1:g.90773879T= | GRCh37 |
| NC_000010.9:g.90763859T= | NCBI36 |
| NG_009089.2:g.28592T= , LRG_134:g.28592T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.989T= | ||
| ENST00000355740.8:c.*3T= | ENSP00000347979.3:n.*3T= | |
| ENST00000357339.7:c.617T= | ENSP00000349896.2:p.Val206= | |
| ENST00000371857.8:n.2225T= | ||
| ENST00000460510.6:c.-38T= | ENSP00000512812.1:n.-38T= | |
| ENST00000466081.6:n.2329T= | ||
| ENST00000477270.6:c.725T= | ENSP00000512813.1:p.Val242= | |
| ENST00000479522.6:c.*109T= | ENSP00000424113.1:n.*109T= | |
| ENST00000484444.6:c.*121T= | ENSP00000420975.1:n.*121T= | |
| ENST00000488877.6:c.571T= | ENSP00000425159.1:n.571T= | |
| ENST00000492756.7:c.*109T= | ENSP00000422453.1:n.*109T= | |
| ENST00000494799.6:c.-38T= | ENSP00000512834.1:n.-38T= | |
| ENST00000562983.3:c.-38T= | ENSP00000512845.1:n.-38T= | |
| ENST00000612663.6:c.*82T= | ENSP00000477997.3:n.*82T= | |
| ENST00000640140.2:n.825T= | ||
| ENST00000640250.2:n.179T= | ||
| ENST00000640681.2:n.784T= | ||
| ENST00000696723.1:n.4313T= | ||
| ENST00000696741.1:n.2318T= | ||
| ENST00000696742.1:n.2045T= | ||
| ENST00000696743.1:n.3448T= | ||
| ENST00000696744.1:n.719T= | ||
| ENST00000696767.1:n.1014T= | ||
| ENST00000696768.1:c.*3T= | ENSP00000512859.1:n.*3T= | |
| ENST00000696769.1:n.2369T= | ||
| ENST00000696771.1:c.-38T= | ENSP00000512860.1:n.-38T= | |
| ENST00000696772.1:n.2283T= | ||
| ENST00000696773.1:n.2022T= | ||
| ENST00000696774.1:n.5790T= | ||
| ENST00000696776.1:c.773T= | ENSP00000512861.1:p.Val258= | |
| ENST00000696777.1:n.2088T= | ||
| ENST00000696778.1:n.1116T= | ||
| ENST00000696779.1:c.287T= | ENSP00000512862.1:p.Val96= | |
| ENST00000696780.1:c.710T= | ENSP00000512863.1:p.Val237= | |
| ENST00000696781.1:c.425T= | ENSP00000512864.1:p.Val142= | |
| ENST00000696782.1:c.*82T= | ENSP00000512865.1:n.*82T= | |
| ENST00000696783.1:n.2548T= | ||
| ENST00000696992.1:n.1797T= | ||
| ENST00000696995.1:n.4209T= | ||
| ENST00000696996.1:n.2122T= | ||
| ENST00000696997.1:c.*310T= | ENSP00000513028.1:n.*310T= | |
| ENST00000696998.1:n.1934T= | ||
| ENST00000696999.1:c.-38T= | ENSP00000513029.1:n.-38T= | |
| ENST00000697035.1:c.*13T= | ENSP00000513059.1:n.*13T= | |
| ENST00000697036.1:c.*96T= | ENSP00000513060.1:n.*96T= | |
| ENST00000697037.1:n.715T= | ||
| ENST00000697093.1:n.2916T= | ||
| ENST00000697094.1:n.3263T= | ||
| ENST00000697095.1:c.*1881T= | ENSP00000513104.1:n.*1881T= | |
| ENST00000697096.1:n.1813T= | ||
| ENST00000697097.1:c.-38T= | ENSP00000513105.1:n.-38T= | |
| ENST00000562983.2:n.866T= | ||
| ENST00000690268.1:c.761T= | ENSP00000509810.1:p.Val254= | |
| ENST00000355740.7:c.*6T= | ENSP00000347979.3:n.*6T= | |
| ENST00000612663.5:c.*82T= | ENSP00000477997.3:n.*82T= | |
| ENST00000640140.1:n.852T= | ||
| ENST00000640250.1:n.179T= | ||
| ENST00000640681.1:n.801T= | ||
| ENST00000652046.1:c.680T= MANE Select | ENSP00000498466.1:p.Val227= | |
| ENST00000313771.9:n.989T= | ||
| ENST00000352159.8:c.699T= | ENSP00000345601.4:p.Cys233= | |
| ENST00000355279.2:c.655T= | ENSP00000347426.2:p.Leu219= | |
| ENST00000355740.6:c.680T= | ENSP00000347979.2:p.Val227= | |
| ENST00000357339.6:c.617T= | ENSP00000349896.2:p.Val206= | |
| ENST00000479522.5:c.*109T= | ENSP00000424113.1:n.*109T= | |
| ENST00000484444.5:c.*121T= | ENSP00000420975.1:n.*121T= | |
| ENST00000488877.5:c.*121T= | ENSP00000425159.1:n.*121T= | |
| ENST00000492756.5:c.508T= | ENSP00000422453.1:n.508T= | |
| ENST00000494410.5:c.*38T= | ENSP00000423755.1:n.*38T= | |
| ENST00000494799.5:n.587T= | ||
| ENST00000612663.4:c.*27T= | ENSP00000477997.2:n.*27T= | |
| ENST00000615406.4:c.680T= | ENSP00000484575.1:p.Val227= | |
| ENST00000626542.2:c.680T= | ENSP00000485876.1:p.Val227= | |
| NM_000043.4:c.680T= , LRG_134t1:c.680T= | NP_000034.1:p.Val227= | |
| NM_152871.2:c.617T= | NP_690610.1:p.Val206= | |
| NM_152872.2:c.655T= | NP_690611.1:p.Leu219= | |
| NR_028033.2:n.854T= | ||
| NR_028034.2:n.716T= | ||
| NR_028035.2:n.779T= | ||
| NR_028036.2:n.917T= | ||
| XM_006717819.2:c.761T= | XP_006717882.1:p.Val254= | |
| XM_011539764.1:c.842T= | XP_011538066.1:p.Val281= | |
| XM_011539765.1:c.779T= | XP_011538067.1:p.Val260= | |
| XM_011539766.1:c.761T= | XP_011538068.1:p.Val254= | |
| XM_011539767.1:c.725T= | XP_011538069.1:p.Val242= | |
| XR_945732.1:n.748T= | ||
| XR_945733.1:n.685T= | ||
| NM_000043.5:c.680T= | NP_000034.1:p.Val227= | |
| NM_001320619.1:c.*3T= | NP_001307548.1:n.*3T= | |
| NM_152871.3:c.617T= | NP_690610.1:p.Val206= | |
| NM_152872.3:c.655T= | NP_690611.1:p.Leu219= | |
| NR_028033.3:n.826T= | ||
| NR_028034.3:n.688T= | ||
| NR_028035.3:n.751T= | ||
| NR_028036.3:n.889T= | ||
| NR_135313.1:n.806T= | ||
| NR_135314.1:n.989T= | ||
| NR_135315.1:n.742T= | ||
| XM_006717819.3:c.761T= | XP_006717882.1:p.Val254= | |
| XM_011539764.2:c.842T= | XP_011538066.1:p.Val281= | |
| XM_011539765.2:c.779T= | XP_011538067.1:p.Val260= | |
| XM_011539766.2:c.761T= | XP_011538068.1:p.Val254= | |
| XM_011539767.3:c.725T= | XP_011538069.1:p.Val242= | |
| XR_945732.3:n.748T= | ||
| XR_945733.2:n.685T= | ||
| NM_000043.6:c.680T= MANE Select | NP_000034.1:p.Val227= | |
| NM_001320619.2:c.*3T= | NP_001307548.1:n.*3T= | |
| NM_152871.4:c.617T= | NP_690610.1:p.Val206= | |
| NM_152872.4:c.655T= | NP_690611.1:p.Leu219= | |
| NR_028033.4:n.587T= | ||
| NR_028034.4:n.449T= | ||
| NR_028035.4:n.512T= | ||
| NR_028036.4:n.650T= | ||
| NR_135313.2:n.567T= | ||
| NR_135314.2:n.846T= | ||
| NR_135315.2:n.599T= |