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.
Linked Data
COSMIC:
COSM5703786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014275T>G , CM000672.2:g.89014275T>G | GRCh38 |
| NC_000010.10:g.90774032T>G , CM000672.1:g.90774032T>G | GRCh37 |
| NC_000010.9:g.90764012T>G | NCBI36 |
| NG_009089.2:g.28745T>G , LRG_134:g.28745T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.1142T>G | ||
| ENST00000355740.8:c.*156T>G | ENSP00000347979.3:n.*156T>G | |
| ENST00000357339.7:c.770T>G | ENSP00000349896.2:p.Leu257Arg | |
| ENST00000371857.8:n.2378T>G | ||
| ENST00000460510.6:c.116T>G | ENSP00000512812.1:p.Leu39Arg | |
| ENST00000466081.6:n.2482T>G | ||
| ENST00000477270.6:c.878T>G | ENSP00000512813.1:p.Leu293Arg | |
| ENST00000479522.6:c.*262T>G | ENSP00000424113.1:n.*262T>G | |
| ENST00000484444.6:c.*274T>G | ENSP00000420975.1:n.*274T>G | |
| ENST00000488877.6:c.724T>G | ENSP00000425159.1:n.724T>G | |
| ENST00000492756.7:c.*262T>G | ENSP00000422453.1:n.*262T>G | |
| ENST00000494799.6:c.116T>G | ENSP00000512834.1:p.Leu39Arg | |
| ENST00000562983.3:c.116T>G | ENSP00000512845.1:p.Leu39Arg | |
| ENST00000612663.6:c.*235T>G | ENSP00000477997.3:n.*235T>G | |
| ENST00000640140.2:n.978T>G | ||
| ENST00000640250.2:n.332T>G | ||
| ENST00000640681.2:n.937T>G | ||
| ENST00000696723.1:n.4466T>G | ||
| ENST00000696741.1:n.2471T>G | ||
| ENST00000696742.1:n.2198T>G | ||
| ENST00000696743.1:n.3601T>G | ||
| ENST00000696744.1:n.872T>G | ||
| ENST00000696767.1:n.1167T>G | ||
| ENST00000696768.1:c.*156T>G | ENSP00000512859.1:n.*156T>G | |
| ENST00000696769.1:n.2522T>G | ||
| ENST00000696771.1:c.116T>G | ENSP00000512860.1:p.Leu39Arg | |
| ENST00000696772.1:n.2436T>G | ||
| ENST00000696773.1:n.2175T>G | ||
| ENST00000696774.1:n.5943T>G | ||
| ENST00000696776.1:c.926T>G | ENSP00000512861.1:p.Leu309Arg | |
| ENST00000696777.1:n.2241T>G | ||
| ENST00000696778.1:n.1269T>G | ||
| ENST00000696779.1:c.440T>G | ENSP00000512862.1:p.Leu147Arg | |
| ENST00000696780.1:c.863T>G | ENSP00000512863.1:p.Leu288Arg | |
| ENST00000696781.1:c.578T>G | ENSP00000512864.1:p.Leu193Arg | |
| ENST00000696782.1:c.*235T>G | ENSP00000512865.1:n.*235T>G | |
| ENST00000696783.1:n.2701T>G | ||
| ENST00000696992.1:n.1950T>G | ||
| ENST00000696995.1:n.4362T>G | ||
| ENST00000696996.1:n.2275T>G | ||
| ENST00000696997.1:c.*463T>G | ENSP00000513028.1:n.*463T>G | |
| ENST00000696998.1:n.2087T>G | ||
| ENST00000696999.1:c.116T>G | ENSP00000513029.1:p.Leu39Arg | |
| ENST00000697035.1:c.*166T>G | ENSP00000513059.1:n.*166T>G | |
| ENST00000697036.1:c.*249T>G | ENSP00000513060.1:n.*249T>G | |
| ENST00000697037.1:n.868T>G | ||
| ENST00000697093.1:n.3069T>G | ||
| ENST00000697094.1:n.3416T>G | ||
| ENST00000697095.1:c.*2034T>G | ENSP00000513104.1:n.*2034T>G | |
| ENST00000697096.1:n.1966T>G | ||
| ENST00000697097.1:c.116T>G | ENSP00000513105.1:p.Leu39Arg | |
| ENST00000562983.2:n.1019T>G | ||
| ENST00000690268.1:c.914T>G | ENSP00000509810.1:p.Leu305Arg | |
| ENST00000355740.7:c.*159T>G | ENSP00000347979.3:n.*159T>G | |
| ENST00000612663.5:c.*235T>G | ENSP00000477997.3:n.*235T>G | |
| ENST00000640140.1:n.1005T>G | ||
| ENST00000640250.1:n.332T>G | ||
| ENST00000640681.1:n.954T>G | ||
| ENST00000652046.1:c.833T>G MANE Select | ENSP00000498466.1:p.Leu278Arg | |
| ENST00000352159.8:c.*150T>G | ENSP00000345601.4:n.*150T>G | |
| ENST00000355279.2:c.808T>G | ENSP00000347426.2:n.808T>G | |
| ENST00000355740.6:c.833T>G | ENSP00000347979.2:p.Leu278Arg | |
| ENST00000357339.6:c.770T>G | ENSP00000349896.2:p.Leu257Arg | |
| ENST00000479522.5:c.*262T>G | ENSP00000424113.1:n.*262T>G | |
| ENST00000484444.5:c.*274T>G | ENSP00000420975.1:n.*274T>G | |
| ENST00000488877.5:c.*274T>G | ENSP00000425159.1:n.*274T>G | |
| ENST00000492756.5:c.661T>G | ENSP00000422453.1:n.661T>G | |
| ENST00000494410.5:c.*191T>G | ENSP00000423755.1:n.*191T>G | |
| ENST00000612663.4:c.*180T>G | ENSP00000477997.2:n.*180T>G | |
| NM_000043.4:c.833T>G , LRG_134t1:c.833T>G | NP_000034.1:p.Leu278Arg | |
| NM_152871.2:c.770T>G | NP_690610.1:p.Leu257Arg | |
| NM_152872.2:c.*145T>G | NP_690611.1:n.*145T>G | |
| NR_028033.2:n.1007T>G | ||
| NR_028034.2:n.869T>G | ||
| NR_028035.2:n.932T>G | ||
| NR_028036.2:n.1070T>G | ||
| XM_006717819.2:c.914T>G | XP_006717882.1:p.Leu305Arg | |
| XM_011539764.1:c.995T>G | XP_011538066.1:p.Leu332Arg | |
| XM_011539765.1:c.932T>G | XP_011538067.1:p.Leu311Arg | |
| XM_011539766.1:c.914T>G | XP_011538068.1:p.Leu305Arg | |
| XM_011539767.1:c.878T>G | XP_011538069.1:p.Leu293Arg | |
| XR_945732.1:n.901T>G | ||
| XR_945733.1:n.838T>G | ||
| NM_000043.5:c.833T>G | NP_000034.1:p.Leu278Arg | |
| NM_001320619.1:c.*156T>G | NP_001307548.1:n.*156T>G | |
| NM_152871.3:c.770T>G | NP_690610.1:p.Leu257Arg | |
| NM_152872.3:c.*145T>G | NP_690611.1:n.*145T>G | |
| NR_028033.3:n.979T>G | ||
| NR_028034.3:n.841T>G | ||
| NR_028035.3:n.904T>G | ||
| NR_028036.3:n.1042T>G | ||
| NR_135313.1:n.959T>G | ||
| NR_135314.1:n.1142T>G | ||
| NR_135315.1:n.895T>G | ||
| XM_006717819.3:c.914T>G | XP_006717882.1:p.Leu305Arg | |
| XM_011539764.2:c.995T>G | XP_011538066.1:p.Leu332Arg | |
| XM_011539765.2:c.932T>G | XP_011538067.1:p.Leu311Arg | |
| XM_011539766.2:c.914T>G | XP_011538068.1:p.Leu305Arg | |
| XM_011539767.3:c.878T>G | XP_011538069.1:p.Leu293Arg | |
| XR_945732.3:n.901T>G | ||
| XR_945733.2:n.838T>G | ||
| NM_000043.6:c.833T>G MANE Select | NP_000034.1:p.Leu278Arg | |
| NM_001320619.2:c.*156T>G | NP_001307548.1:n.*156T>G | |
| NM_152871.4:c.770T>G | NP_690610.1:p.Leu257Arg | |
| NM_152872.4:c.*145T>G | NP_690611.1:n.*145T>G | |
| NR_028033.4:n.740T>G | ||
| NR_028034.4:n.602T>G | ||
| NR_028035.4:n.665T>G | ||
| NR_028036.4:n.803T>G | ||
| NR_135313.2:n.720T>G | ||
| NR_135314.2:n.999T>G | ||
| NR_135315.2:n.752T>G |