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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014278G>C , CM000672.2:g.89014278G>C | GRCh38 |
| NC_000010.10:g.90774035G>C , CM000672.1:g.90774035G>C | GRCh37 |
| NC_000010.9:g.90764015G>C | NCBI36 |
| NG_009089.2:g.28748G>C , LRG_134:g.28748G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1145G>C | ||
| ENST00000355740.8:c.*159G>C | ENSP00000347979.3:n.*159G>C | |
| ENST00000357339.7:c.773G>C | ENSP00000349896.2:p.Arg258Pro | |
| ENST00000371857.8:n.2381G>C | ||
| ENST00000460510.6:c.119G>C | ENSP00000512812.1:p.Arg40Pro | |
| ENST00000466081.6:n.2485G>C | ||
| ENST00000477270.6:c.881G>C | ENSP00000512813.1:p.Arg294Pro | |
| ENST00000479522.6:c.*265G>C | ENSP00000424113.1:n.*265G>C | |
| ENST00000484444.6:c.*277G>C | ENSP00000420975.1:n.*277G>C | |
| ENST00000488877.6:c.727G>C | ENSP00000425159.1:n.727G>C | |
| ENST00000492756.7:c.*265G>C | ENSP00000422453.1:n.*265G>C | |
| ENST00000494799.6:c.119G>C | ENSP00000512834.1:p.Arg40Pro | |
| ENST00000562983.3:c.119G>C | ENSP00000512845.1:p.Arg40Pro | |
| ENST00000612663.6:c.*238G>C | ENSP00000477997.3:n.*238G>C | |
| ENST00000640140.2:n.981G>C | ||
| ENST00000640250.2:n.335G>C | ||
| ENST00000640681.2:n.940G>C | ||
| ENST00000696723.1:n.4469G>C | ||
| ENST00000696741.1:n.2474G>C | ||
| ENST00000696742.1:n.2201G>C | ||
| ENST00000696743.1:n.3604G>C | ||
| ENST00000696744.1:n.875G>C | ||
| ENST00000696767.1:n.1170G>C | ||
| ENST00000696768.1:c.*159G>C | ENSP00000512859.1:n.*159G>C | |
| ENST00000696769.1:n.2525G>C | ||
| ENST00000696771.1:c.119G>C | ENSP00000512860.1:p.Arg40Pro | |
| ENST00000696772.1:n.2439G>C | ||
| ENST00000696773.1:n.2178G>C | ||
| ENST00000696774.1:n.5946G>C | ||
| ENST00000696776.1:c.929G>C | ENSP00000512861.1:p.Arg310Pro | |
| ENST00000696777.1:n.2244G>C | ||
| ENST00000696778.1:n.1272G>C | ||
| ENST00000696779.1:c.443G>C | ENSP00000512862.1:p.Arg148Pro | |
| ENST00000696780.1:c.866G>C | ENSP00000512863.1:p.Arg289Pro | |
| ENST00000696781.1:c.581G>C | ENSP00000512864.1:p.Arg194Pro | |
| ENST00000696782.1:c.*238G>C | ENSP00000512865.1:n.*238G>C | |
| ENST00000696783.1:n.2704G>C | ||
| ENST00000696992.1:n.1953G>C | ||
| ENST00000696995.1:n.4365G>C | ||
| ENST00000696996.1:n.2278G>C | ||
| ENST00000696997.1:c.*466G>C | ENSP00000513028.1:n.*466G>C | |
| ENST00000696998.1:n.2090G>C | ||
| ENST00000696999.1:c.119G>C | ENSP00000513029.1:p.Arg40Pro | |
| ENST00000697035.1:c.*169G>C | ENSP00000513059.1:n.*169G>C | |
| ENST00000697036.1:c.*252G>C | ENSP00000513060.1:n.*252G>C | |
| ENST00000697037.1:n.871G>C | ||
| ENST00000697093.1:n.3072G>C | ||
| ENST00000697094.1:n.3419G>C | ||
| ENST00000697095.1:c.*2037G>C | ENSP00000513104.1:n.*2037G>C | |
| ENST00000697096.1:n.1969G>C | ||
| ENST00000697097.1:c.119G>C | ENSP00000513105.1:p.Arg40Pro | |
| ENST00000562983.2:n.1022G>C | ||
| ENST00000690268.1:c.917G>C | ENSP00000509810.1:p.Arg306Pro | |
| ENST00000355740.7:c.*162G>C | ENSP00000347979.3:n.*162G>C | |
| ENST00000612663.5:c.*238G>C | ENSP00000477997.3:n.*238G>C | |
| ENST00000640140.1:n.1008G>C | ||
| ENST00000640250.1:n.335G>C | ||
| ENST00000640681.1:n.957G>C | ||
| ENST00000652046.1:c.836G>C MANE Select | ENSP00000498466.1:p.Arg279Pro | |
| ENST00000352159.8:c.*153G>C | ENSP00000345601.4:n.*153G>C | |
| ENST00000355279.2:c.811G>C | ENSP00000347426.2:n.811G>C | |
| ENST00000355740.6:c.836G>C | ENSP00000347979.2:p.Arg279Pro | |
| ENST00000357339.6:c.773G>C | ENSP00000349896.2:p.Arg258Pro | |
| ENST00000479522.5:c.*265G>C | ENSP00000424113.1:n.*265G>C | |
| ENST00000484444.5:c.*277G>C | ENSP00000420975.1:n.*277G>C | |
| ENST00000488877.5:c.*277G>C | ENSP00000425159.1:n.*277G>C | |
| ENST00000492756.5:c.664G>C | ENSP00000422453.1:n.664G>C | |
| ENST00000494410.5:c.*194G>C | ENSP00000423755.1:n.*194G>C | |
| ENST00000612663.4:c.*183G>C | ENSP00000477997.2:n.*183G>C | |
| NM_000043.4:c.836G>C , LRG_134t1:c.836G>C | NP_000034.1:p.Arg279Pro | |
| NM_152871.2:c.773G>C | NP_690610.1:p.Arg258Pro | |
| NM_152872.2:c.*148G>C | NP_690611.1:n.*148G>C | |
| NR_028033.2:n.1010G>C | ||
| NR_028034.2:n.872G>C | ||
| NR_028035.2:n.935G>C | ||
| NR_028036.2:n.1073G>C | ||
| XM_006717819.2:c.917G>C | XP_006717882.1:p.Arg306Pro | |
| XM_011539764.1:c.998G>C | XP_011538066.1:p.Arg333Pro | |
| XM_011539765.1:c.935G>C | XP_011538067.1:p.Arg312Pro | |
| XM_011539766.1:c.917G>C | XP_011538068.1:p.Arg306Pro | |
| XM_011539767.1:c.881G>C | XP_011538069.1:p.Arg294Pro | |
| XR_945732.1:n.904G>C | ||
| XR_945733.1:n.841G>C | ||
| NM_000043.5:c.836G>C | NP_000034.1:p.Arg279Pro | |
| NM_001320619.1:c.*159G>C | NP_001307548.1:n.*159G>C | |
| NM_152871.3:c.773G>C | NP_690610.1:p.Arg258Pro | |
| NM_152872.3:c.*148G>C | NP_690611.1:n.*148G>C | |
| NR_028033.3:n.982G>C | ||
| NR_028034.3:n.844G>C | ||
| NR_028035.3:n.907G>C | ||
| NR_028036.3:n.1045G>C | ||
| NR_135313.1:n.962G>C | ||
| NR_135314.1:n.1145G>C | ||
| NR_135315.1:n.898G>C | ||
| XM_006717819.3:c.917G>C | XP_006717882.1:p.Arg306Pro | |
| XM_011539764.2:c.998G>C | XP_011538066.1:p.Arg333Pro | |
| XM_011539765.2:c.935G>C | XP_011538067.1:p.Arg312Pro | |
| XM_011539766.2:c.917G>C | XP_011538068.1:p.Arg306Pro | |
| XM_011539767.3:c.881G>C | XP_011538069.1:p.Arg294Pro | |
| XR_945732.3:n.904G>C | ||
| XR_945733.2:n.841G>C | ||
| NM_000043.6:c.836G>C MANE Select | NP_000034.1:p.Arg279Pro | |
| NM_001320619.2:c.*159G>C | NP_001307548.1:n.*159G>C | |
| NM_152871.4:c.773G>C | NP_690610.1:p.Arg258Pro | |
| NM_152872.4:c.*148G>C | NP_690611.1:n.*148G>C | |
| NR_028033.4:n.743G>C | ||
| NR_028034.4:n.605G>C | ||
| NR_028035.4:n.668G>C | ||
| NR_028036.4:n.806G>C | ||
| NR_135313.2:n.723G>C | ||
| NR_135314.2:n.1002G>C | ||
| NR_135315.2:n.755G>C |