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_000007.14:g.144548528A>C , CM000669.2:g.144548528A>C | GRCh38 |
| NC_000007.13:g.144245621A>C , CM000669.1:g.144245621A>C | GRCh37 |
| NC_000007.12:g.143876554A>C | NCBI36 |
| NG_032112.1:g.292526T>G | |
| NG_032112.2:g.292526T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639328.1:c.258T>G | ENSP00000491869.1:p.Cys86Trp | |
| ENST00000360057.7:c.576T>G MANE Select | ENSP00000353165.3:p.Cys192Trp | |
| ENST00000378098.8:c.*332T>G | ENSP00000367338.4:n.*332T>G | |
| ENST00000378099.7:c.429T>G | ENSP00000367339.3:p.Cys143Trp | |
| ENST00000482940.5:c.*501T>G | ENSP00000449909.1:n.*501T>G | |
| ENST00000538212.6:c.414T>G | ENSP00000438813.2:p.Cys138Trp | |
| ENST00000547966.5:n.474T>G | ||
| ENST00000551062.5:n.343T>G | ||
| NM_001042482.1:c.429T>G | NP_001035947.1:p.Cys143Trp | |
| NM_022445.3:c.576T>G | NP_071890.2:p.Cys192Trp | |
| XM_005249970.1:c.576T>G | XP_005250027.1:p.Cys192Trp | |
| XM_006715925.2:c.258T>G | XP_006715988.1:p.Cys86Trp | |
| XM_011516031.1:c.654T>G | XP_011514333.1:p.Cys218Trp | |
| XM_011516032.1:c.654T>G | XP_011514334.1:p.Cys218Trp | |
| XM_011516033.1:c.654T>G | XP_011514335.1:p.Cys218Trp | |
| XM_011516034.1:c.654T>G | XP_011514336.1:p.Cys218Trp | |
| XM_011516035.1:c.654T>G | XP_011514337.1:p.Cys218Trp | |
| XM_011516036.1:c.639T>G | XP_011514338.1:p.Cys213Trp | |
| XM_011516037.1:c.639T>G | XP_011514339.1:p.Cys213Trp | |
| XM_011516038.1:c.639T>G | XP_011514340.1:p.Cys213Trp | |
| XM_011516039.1:c.576T>G | XP_011514341.1:p.Cys192Trp | |
| XM_011516040.1:c.654T>G | XP_011514342.1:p.Cys218Trp | |
| XM_011516041.1:c.561T>G | XP_011514343.1:p.Cys187Trp | |
| XM_011516042.1:c.654T>G | XP_011514344.1:p.Cys218Trp | |
| XM_011516043.1:c.507T>G | XP_011514345.1:p.Cys169Trp | |
| XM_011516044.1:c.414T>G | XP_011514346.1:p.Cys138Trp | |
| XM_011516045.1:c.336T>G | XP_011514347.1:p.Cys112Trp | |
| XM_011516047.1:c.258T>G | XP_011514349.1:p.Cys86Trp | |
| XM_011516048.1:c.258T>G | XP_011514350.1:p.Cys86Trp | |
| XM_011516049.1:c.258T>G | XP_011514351.1:p.Cys86Trp | |
| XM_011516050.1:c.258T>G | XP_011514352.1:p.Cys86Trp | |
| XR_927446.1:n.758T>G | ||
| XR_927448.1:n.758T>G | ||
| XR_927450.1:n.1148T>G | ||
| XR_927453.1:n.801T>G | ||
| NM_001350879.1:c.576T>G | NP_001337808.1:p.Cys192Trp | |
| NM_001350880.1:c.429T>G | NP_001337809.1:p.Cys143Trp | |
| NM_001350881.1:c.576T>G | NP_001337810.1:p.Cys192Trp | |
| NM_001350882.1:c.561T>G | NP_001337811.1:p.Cys187Trp | |
| NM_001350883.1:c.561T>G | NP_001337812.1:p.Cys187Trp | |
| NM_001350884.1:c.561T>G | NP_001337813.1:p.Cys187Trp | |
| NM_001350885.1:c.258T>G | NP_001337814.1:p.Cys86Trp | |
| NM_001350886.1:c.258T>G | NP_001337815.1:p.Cys86Trp | |
| NM_001350887.1:c.258T>G | NP_001337816.1:p.Cys86Trp | |
| NM_001350889.1:c.258T>G | NP_001337818.1:p.Cys86Trp | |
| NM_001350893.1:c.258T>G | NP_001337822.1:p.Cys86Trp | |
| NM_001350894.1:c.258T>G | NP_001337823.1:p.Cys86Trp | |
| NM_001350895.1:c.225T>G | NP_001337824.1:p.Cys75Trp | |
| NR_146934.1:n.473T>G | ||
| NR_146935.1:n.612T>G | ||
| NR_146936.1:n.949T>G | ||
| XM_011516032.2:c.654T>G | XP_011514334.1:p.Cys218Trp | |
| XM_011516033.2:c.654T>G | XP_011514335.1:p.Cys218Trp | |
| XM_011516034.2:c.654T>G | XP_011514336.1:p.Cys218Trp | |
| XM_011516035.3:c.654T>G | XP_011514337.1:p.Cys218Trp | |
| XM_011516037.2:c.639T>G | XP_011514339.1:p.Cys213Trp | |
| XM_011516039.2:c.576T>G | XP_011514341.1:p.Cys192Trp | |
| XM_011516040.2:c.654T>G | XP_011514342.1:p.Cys218Trp | |
| XM_011516047.2:c.258T>G | XP_011514349.1:p.Cys86Trp | |
| XM_017011969.1:c.654T>G | XP_016867458.1:p.Cys218Trp | |
| XM_017011970.1:c.639T>G | XP_016867459.1:p.Cys213Trp | |
| XM_017011971.1:c.639T>G | XP_016867460.1:p.Cys213Trp | |
| XM_017011972.1:c.654T>G | XP_016867461.1:p.Cys218Trp | |
| XM_017011974.1:c.576T>G | XP_016867463.1:p.Cys192Trp | |
| XM_017011975.1:c.576T>G | XP_016867464.1:p.Cys192Trp | |
| XM_017011980.2:c.336T>G | XP_016867469.1:p.Cys112Trp | |
| XM_017011981.2:c.336T>G | XP_016867470.1:p.Cys112Trp | |
| XM_017011982.1:c.258T>G | XP_016867471.1:p.Cys86Trp | |
| XM_024446715.1:c.414T>G | XP_024302483.1:p.Cys138Trp | |
| XM_024446716.1:c.225T>G | XP_024302484.1:p.Cys75Trp | |
| XM_024446717.1:c.258T>G | XP_024302485.1:p.Cys86Trp | |
| XR_001744630.1:n.1723T>G | ||
| NM_022445.4:c.576T>G MANE Select | NP_071890.2:p.Cys192Trp | |
| NM_001350884.2:c.561T>G | NP_001337813.1:p.Cys187Trp | |
| NR_146936.2:n.925T>G | ||
| NM_001042482.2:c.429T>G | NP_001035947.1:p.Cys143Trp |