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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177260154T>A | CA362303377 | NSD1 | c.4259T>A (p.Phe1420Tyr) n.4715T>A c.4823T>A (p.Phe1608Tyr) n.4529T>A n.5279T>A c.5132T>A (p.Phe1711Tyr) c.4325T>A (p.Phe1442Tyr) c.626T>A (p.Phe209Tyr) c.4712T>A (p.Phe1571Tyr) c.4076T>A (p.Phe1359Tyr) c.866T>A (p.Phe289Tyr) | |
| 5 | g.177260154T>C | CA362303378 | NSD1 | c.4259T>C (p.Phe1420Ser) n.4715T>C c.4823T>C (p.Phe1608Ser) n.4529T>C n.5279T>C c.5132T>C (p.Phe1711Ser) c.4325T>C (p.Phe1442Ser) c.626T>C (p.Phe209Ser) c.4712T>C (p.Phe1571Ser) c.4076T>C (p.Phe1359Ser) c.866T>C (p.Phe289Ser) | |
| 5 | g.177260154T>G | CA362303381 | NSD1 | c.4259T>G (p.Phe1420Cys) n.4715T>G c.4823T>G (p.Phe1608Cys) n.4529T>G n.5279T>G c.5132T>G (p.Phe1711Cys) c.4325T>G (p.Phe1442Cys) c.626T>G (p.Phe209Cys) c.4712T>G (p.Phe1571Cys) c.4076T>G (p.Phe1359Cys) c.866T>G (p.Phe289Cys) | |
| 5 | g.177260155T>A | CA362303383 | NSD1 | c.4260T>A (p.Phe1420Leu) n.4716T>A c.4824T>A (p.Phe1608Leu) n.4530T>A n.5280T>A c.5133T>A (p.Phe1711Leu) c.4326T>A (p.Phe1442Leu) c.627T>A (p.Phe209Leu) c.4713T>A (p.Phe1571Leu) c.4077T>A (p.Phe1359Leu) c.867T>A (p.Phe289Leu) | |
| 5 | g.177260155T>C | CA3577767 | NSD1 | c.4260T>C (p.Phe1420=) n.4716T>C c.4824T>C (p.Phe1608=) n.4530T>C n.5280T>C c.5133T>C (p.Phe1711=) c.4326T>C (p.Phe1442=) c.627T>C (p.Phe209=) c.4713T>C (p.Phe1571=) c.4077T>C (p.Phe1359=) c.867T>C (p.Phe289=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177260155T>G | CA362303385 | NSD1 | c.4260T>G (p.Phe1420Leu) n.4716T>G c.4824T>G (p.Phe1608Leu) n.4530T>G n.5280T>G c.5133T>G (p.Phe1711Leu) c.4326T>G (p.Phe1442Leu) c.627T>G (p.Phe209Leu) c.4713T>G (p.Phe1571Leu) c.4077T>G (p.Phe1359Leu) c.867T>G (p.Phe289Leu) | |
| 5 | g.177260155T= | CA1603527295 | NSD1 | c.4260T= (p.Phe1420=) n.4716T= c.4824T= (p.Phe1608=) n.4530T= n.5280T= c.5133T= (p.Phe1711=) c.4326T= (p.Phe1442=) c.627T= (p.Phe209=) c.4713T= (p.Phe1571=) c.4077T= (p.Phe1359=) c.867T= (p.Phe289=) | |
| 5 | g.177260156G>A | CA362303387 | NSD1 | c.4261G>A (p.Val1421Met) n.4717G>A c.4825G>A (p.Val1609Met) n.4531G>A n.5281G>A c.5134G>A (p.Val1712Met) c.4327G>A (p.Val1443Met) c.628G>A (p.Val210Met) c.4714G>A (p.Val1572Met) c.4078G>A (p.Val1360Met) c.868G>A (p.Val290Met) | |
| 5 | g.177260156G>C | CA362303388 | NSD1 | c.4261G>C (p.Val1421Leu) n.4717G>C c.4825G>C (p.Val1609Leu) n.4531G>C n.5281G>C c.5134G>C (p.Val1712Leu) c.4327G>C (p.Val1443Leu) c.628G>C (p.Val210Leu) c.4714G>C (p.Val1572Leu) c.4078G>C (p.Val1360Leu) c.868G>C (p.Val290Leu) | |
| 5 | g.177260156G>T | CA362303390 | NSD1 | c.4261G>T (p.Val1421Leu) n.4717G>T c.4825G>T (p.Val1609Leu) n.4531G>T n.5281G>T c.5134G>T (p.Val1712Leu) c.4327G>T (p.Val1443Leu) c.628G>T (p.Val210Leu) c.4714G>T (p.Val1572Leu) c.4078G>T (p.Val1360Leu) c.868G>T (p.Val290Leu) | |
| 5 | g.177260157T>A | CA362303398 | NSD1 | c.4262T>A (p.Val1421Glu) n.4718T>A c.4826T>A (p.Val1609Glu) n.4532T>A n.5282T>A c.5135T>A (p.Val1712Glu) c.4328T>A (p.Val1443Glu) c.629T>A (p.Val210Glu) c.4715T>A (p.Val1572Glu) c.4079T>A (p.Val1360Glu) c.869T>A (p.Val290Glu) | |
| 5 | g.177260157T>C | CA362303399 | NSD1 | c.4262T>C (p.Val1421Ala) n.4718T>C c.4826T>C (p.Val1609Ala) n.4532T>C n.5282T>C c.5135T>C (p.Val1712Ala) c.4328T>C (p.Val1443Ala) c.629T>C (p.Val210Ala) c.4715T>C (p.Val1572Ala) c.4079T>C (p.Val1360Ala) c.869T>C (p.Val290Ala) | |
| 5 | g.177260157T>G | CA362303393 | NSD1 | c.4262T>G (p.Val1421Gly) n.4718T>G c.4826T>G (p.Val1609Gly) n.4532T>G n.5282T>G c.5135T>G (p.Val1712Gly) c.4328T>G (p.Val1443Gly) c.629T>G (p.Val210Gly) c.4715T>G (p.Val1572Gly) c.4079T>G (p.Val1360Gly) c.869T>G (p.Val290Gly) | |
| 5 | g.177260158G>A | CA447726429 | NSD1 | c.4263G>A (p.Val1421=) n.4719G>A c.4827G>A (p.Val1609=) n.4533G>A n.5283G>A c.5136G>A (p.Val1712=) c.4329G>A (p.Val1443=) c.630G>A (p.Val210=) c.4716G>A (p.Val1572=) c.4080G>A (p.Val1360=) c.870G>A (p.Val290=) | |
| 5 | g.177260158G>C | CA447726430 | NSD1 | c.4263G>C (p.Val1421=) n.4719G>C c.4827G>C (p.Val1609=) n.4533G>C n.5283G>C c.5136G>C (p.Val1712=) c.4329G>C (p.Val1443=) c.630G>C (p.Val210=) c.4716G>C (p.Val1572=) c.4080G>C (p.Val1360=) c.870G>C (p.Val290=) | |
| 5 | g.177260158G>T | CA447726431 | NSD1 | c.4263G>T (p.Val1421=) n.4719G>T c.4827G>T (p.Val1609=) n.4533G>T n.5283G>T c.5136G>T (p.Val1712=) c.4329G>T (p.Val1443=) c.630G>T (p.Val210=) c.4716G>T (p.Val1572=) c.4080G>T (p.Val1360=) c.870G>T (p.Val290=) | gnomAD v4 |
| 5 | g.177260159T>A | CA362303400 | NSD1 | c.4264T>A (p.Cys1422Ser) n.4720T>A c.4828T>A (p.Cys1610Ser) n.4534T>A n.5284T>A c.5137T>A (p.Cys1713Ser) c.4330T>A (p.Cys1444Ser) c.631T>A (p.Cys211Ser) c.4717T>A (p.Cys1573Ser) c.4081T>A (p.Cys1361Ser) c.871T>A (p.Cys291Ser) | |
| 5 | g.177260159T>C | CA362303401 | NSD1 | c.4264T>C (p.Cys1422Arg) n.4720T>C c.4828T>C (p.Cys1610Arg) n.4534T>C n.5284T>C c.5137T>C (p.Cys1713Arg) c.4330T>C (p.Cys1444Arg) c.631T>C (p.Cys211Arg) c.4717T>C (p.Cys1573Arg) c.4081T>C (p.Cys1361Arg) c.871T>C (p.Cys291Arg) | |
| 5 | g.177260159T>G | CA362303402 | NSD1 | c.4264T>G (p.Cys1422Gly) n.4720T>G c.4828T>G (p.Cys1610Gly) n.4534T>G n.5284T>G c.5137T>G (p.Cys1713Gly) c.4330T>G (p.Cys1444Gly) c.631T>G (p.Cys211Gly) c.4717T>G (p.Cys1573Gly) c.4081T>G (p.Cys1361Gly) c.871T>G (p.Cys291Gly) | |
| 5 | g.177260160G>A | CA362303403 | NSD1 | c.4265G>A (p.Cys1422Tyr) n.4721G>A c.4829G>A (p.Cys1610Tyr) n.4535G>A n.5285G>A c.5138G>A (p.Cys1713Tyr) c.4331G>A (p.Cys1444Tyr) c.632G>A (p.Cys211Tyr) c.4718G>A (p.Cys1573Tyr) c.4082G>A (p.Cys1361Tyr) c.872G>A (p.Cys291Tyr) | dbSNP |
| 5 | g.177260160G>C | CA362303404 | NSD1 | c.4265G>C (p.Cys1422Ser) n.4721G>C c.4829G>C (p.Cys1610Ser) n.4535G>C n.5285G>C c.5138G>C (p.Cys1713Ser) c.4331G>C (p.Cys1444Ser) c.632G>C (p.Cys211Ser) c.4718G>C (p.Cys1573Ser) c.4082G>C (p.Cys1361Ser) c.872G>C (p.Cys291Ser) | |
| 5 | g.177260160G>T | CA362303405 | NSD1 | c.4265G>T (p.Cys1422Phe) n.4721G>T c.4829G>T (p.Cys1610Phe) n.4535G>T n.5285G>T c.5138G>T (p.Cys1713Phe) c.4331G>T (p.Cys1444Phe) c.632G>T (p.Cys211Phe) c.4718G>T (p.Cys1573Phe) c.4082G>T (p.Cys1361Phe) c.872G>T (p.Cys291Phe) | |
| 5 | g.177260161C>A | CA362303408 | NSD1 | c.4266C>A (p.Cys1422Ter) n.4722C>A c.4830C>A (p.Cys1610Ter) n.4536C>A n.5286C>A c.5139C>A (p.Cys1713Ter) c.4332C>A (p.Cys1444Ter) c.633C>A (p.Cys211Ter) c.4719C>A (p.Cys1573Ter) c.4083C>A (p.Cys1361Ter) c.873C>A (p.Cys291Ter) | |
| 5 | g.177260161C>G | CA362303406 | NSD1 | c.4266C>G (p.Cys1422Trp) n.4722C>G c.4830C>G (p.Cys1610Trp) n.4536C>G n.5286C>G c.5139C>G (p.Cys1713Trp) c.4332C>G (p.Cys1444Trp) c.633C>G (p.Cys211Trp) c.4719C>G (p.Cys1573Trp) c.4083C>G (p.Cys1361Trp) c.873C>G (p.Cys291Trp) | |
| 5 | g.177260161C>T | CA447726432 | NSD1 | c.4266C>T (p.Cys1422=) n.4722C>T c.4830C>T (p.Cys1610=) n.4536C>T n.5286C>T c.5139C>T (p.Cys1713=) c.4332C>T (p.Cys1444=) c.633C>T (p.Cys211=) c.4719C>T (p.Cys1573=) c.4083C>T (p.Cys1361=) c.873C>T (p.Cys291=) | COSMIC COSMIC |
| 5 | g.177260162T>A | CA362303411 | NSD1 | c.4267T>A (p.Ser1423Thr) n.4723T>A c.4831T>A (p.Ser1611Thr) n.4537T>A n.5287T>A c.5140T>A (p.Ser1714Thr) c.4333T>A (p.Ser1445Thr) c.634T>A (p.Ser212Thr) c.4720T>A (p.Ser1574Thr) c.4084T>A (p.Ser1362Thr) c.874T>A (p.Ser292Thr) | dbSNP |
| 5 | g.177260162T>C | CA362303413 | NSD1 | c.4267T>C (p.Ser1423Pro) n.4723T>C c.4831T>C (p.Ser1611Pro) n.4537T>C n.5287T>C c.5140T>C (p.Ser1714Pro) c.4333T>C (p.Ser1445Pro) c.634T>C (p.Ser212Pro) c.4720T>C (p.Ser1574Pro) c.4084T>C (p.Ser1362Pro) c.874T>C (p.Ser292Pro) | |
| 5 | g.177260162T>G | CA362303415 | NSD1 | c.4267T>G (p.Ser1423Ala) n.4723T>G c.4831T>G (p.Ser1611Ala) n.4537T>G n.5287T>G c.5140T>G (p.Ser1714Ala) c.4333T>G (p.Ser1445Ala) c.634T>G (p.Ser212Ala) c.4720T>G (p.Ser1574Ala) c.4084T>G (p.Ser1362Ala) c.874T>G (p.Ser292Ala) | |
| 5 | g.177260163C>A | CA362303417 | NSD1 | c.4268C>A (p.Ser1423Ter) n.4724C>A c.4832C>A (p.Ser1611Ter) n.4538C>A n.5288C>A c.5141C>A (p.Ser1714Ter) c.4334C>A (p.Ser1445Ter) c.635C>A (p.Ser212Ter) c.4721C>A (p.Ser1574Ter) c.4085C>A (p.Ser1362Ter) c.875C>A (p.Ser292Ter) | |
| 5 | g.177260163C= | CA1603527299 | NSD1 | c.4268C= (p.Ser1423=) n.4724C= c.4832C= (p.Ser1611=) n.4538C= n.5288C= c.5141C= (p.Ser1714=) c.4334C= (p.Ser1445=) c.635C= (p.Ser212=) c.4721C= (p.Ser1574=) c.4085C= (p.Ser1362=) c.875C= (p.Ser292=) | |
| 5 | g.177260163C>G | CA294936 | NSD1 | c.4268C>G (p.Ser1423Ter) n.4724C>G c.4832C>G (p.Ser1611Ter) n.4538C>G n.5288C>G c.5141C>G (p.Ser1714Ter) c.4334C>G (p.Ser1445Ter) c.635C>G (p.Ser212Ter) c.4721C>G (p.Ser1574Ter) c.4085C>G (p.Ser1362Ter) c.875C>G (p.Ser292Ter) | ClinVar dbSNP |
| 5 | g.177260163C>T | CA362303419 | NSD1 | c.4268C>T (p.Ser1423Leu) n.4724C>T c.4832C>T (p.Ser1611Leu) n.4538C>T n.5288C>T c.5141C>T (p.Ser1714Leu) c.4334C>T (p.Ser1445Leu) c.635C>T (p.Ser212Leu) c.4721C>T (p.Ser1574Leu) c.4085C>T (p.Ser1362Leu) c.875C>T (p.Ser292Leu) | |
| 5 | g.177260164A= | CA1603527309 | NSD1 | c.4269A= (p.Ser1423=) n.4725A= c.4833A= (p.Ser1611=) n.4539A= n.5289A= c.5142A= (p.Ser1714=) c.4335A= (p.Ser1445=) c.636A= (p.Ser212=) c.4722A= (p.Ser1574=) c.4086A= (p.Ser1362=) c.876A= (p.Ser292=) | |
| 5 | g.177260164A>C | CA447726433 | NSD1 | c.4269A>C (p.Ser1423=) n.4725A>C c.4833A>C (p.Ser1611=) n.4539A>C n.5289A>C c.5142A>C (p.Ser1714=) c.4335A>C (p.Ser1445=) c.636A>C (p.Ser212=) c.4722A>C (p.Ser1574=) c.4086A>C (p.Ser1362=) c.876A>C (p.Ser292=) | |
| 5 | g.177260164A>G | CA447726435 | NSD1 | c.4269A>G (p.Ser1423=) n.4725A>G c.4833A>G (p.Ser1611=) n.4539A>G n.5289A>G c.5142A>G (p.Ser1714=) c.4335A>G (p.Ser1445=) c.636A>G (p.Ser212=) c.4722A>G (p.Ser1574=) c.4086A>G (p.Ser1362=) c.876A>G (p.Ser292=) | |
| 5 | g.177260164A>T | CA447726434 | NSD1 | c.4269A>T (p.Ser1423=) n.4725A>T c.4833A>T (p.Ser1611=) n.4539A>T n.5289A>T c.5142A>T (p.Ser1714=) c.4335A>T (p.Ser1445=) c.636A>T (p.Ser212=) c.4722A>T (p.Ser1574=) c.4086A>T (p.Ser1362=) c.876A>T (p.Ser292=) | dbSNP |
| 5 | g.177260165G>A | CA362303420 | NSD1 | c.4270G>A (p.Glu1424Lys) n.4726G>A c.4834G>A (p.Glu1612Lys) n.4540G>A n.5290G>A c.5143G>A (p.Glu1715Lys) c.4336G>A (p.Glu1446Lys) c.637G>A (p.Glu213Lys) c.4723G>A (p.Glu1575Lys) c.4087G>A (p.Glu1363Lys) c.877G>A (p.Glu293Lys) | |
| 5 | g.177260165G>C | CA362303422 | NSD1 | c.4270G>C (p.Glu1424Gln) n.4726G>C c.4834G>C (p.Glu1612Gln) n.4540G>C n.5290G>C c.5143G>C (p.Glu1715Gln) c.4336G>C (p.Glu1446Gln) c.637G>C (p.Glu213Gln) c.4723G>C (p.Glu1575Gln) c.4087G>C (p.Glu1363Gln) c.877G>C (p.Glu293Gln) | |
| 5 | g.177260165G>T | CA362303421 | NSD1 | c.4270G>T (p.Glu1424Ter) n.4726G>T c.4834G>T (p.Glu1612Ter) n.4540G>T n.5290G>T c.5143G>T (p.Glu1715Ter) c.4336G>T (p.Glu1446Ter) c.637G>T (p.Glu213Ter) c.4723G>T (p.Glu1575Ter) c.4087G>T (p.Glu1363Ter) c.877G>T (p.Glu293Ter) | ClinVar |
| 5 | g.177260166A>C | CA362303424 | NSD1 | c.4271A>C (p.Glu1424Ala) n.4727A>C c.4835A>C (p.Glu1612Ala) n.4541A>C n.5291A>C c.5144A>C (p.Glu1715Ala) c.4337A>C (p.Glu1446Ala) c.638A>C (p.Glu213Ala) c.4724A>C (p.Glu1575Ala) c.4088A>C (p.Glu1363Ala) c.878A>C (p.Glu293Ala) | |
| 5 | g.177260166A>G | CA362303426 | NSD1 | c.4271A>G (p.Glu1424Gly) n.4727A>G c.4835A>G (p.Glu1612Gly) n.4541A>G n.5291A>G c.5144A>G (p.Glu1715Gly) c.4337A>G (p.Glu1446Gly) c.638A>G (p.Glu213Gly) c.4724A>G (p.Glu1575Gly) c.4088A>G (p.Glu1363Gly) c.878A>G (p.Glu293Gly) | |
| 5 | g.177260166A>T | CA362303428 | NSD1 | c.4271A>T (p.Glu1424Val) n.4727A>T c.4835A>T (p.Glu1612Val) n.4541A>T n.5291A>T c.5144A>T (p.Glu1715Val) c.4337A>T (p.Glu1446Val) c.638A>T (p.Glu213Val) c.4724A>T (p.Glu1575Val) c.4088A>T (p.Glu1363Val) c.878A>T (p.Glu293Val) | |
| 5 | g.177260167A>C | CA362303432 | NSD1 | c.4272A>C (p.Glu1424Asp) n.4728A>C c.4836A>C (p.Glu1612Asp) n.4542A>C n.5292A>C c.5145A>C (p.Glu1715Asp) c.4338A>C (p.Glu1446Asp) c.639A>C (p.Glu213Asp) c.4725A>C (p.Glu1575Asp) c.4089A>C (p.Glu1363Asp) c.879A>C (p.Glu293Asp) | |
| 5 | g.177260167A>G | CA447726436 | NSD1 | c.4272A>G (p.Glu1424=) n.4728A>G c.4836A>G (p.Glu1612=) n.4542A>G n.5292A>G c.5145A>G (p.Glu1715=) c.4338A>G (p.Glu1446=) c.639A>G (p.Glu213=) c.4725A>G (p.Glu1575=) c.4089A>G (p.Glu1363=) c.879A>G (p.Glu293=) | COSMIC COSMIC |
| 5 | g.177260167A>T | CA362303433 | NSD1 | c.4272A>T (p.Glu1424Asp) n.4728A>T c.4836A>T (p.Glu1612Asp) n.4542A>T n.5292A>T c.5145A>T (p.Glu1715Asp) c.4338A>T (p.Glu1446Asp) c.639A>T (p.Glu213Asp) c.4725A>T (p.Glu1575Asp) c.4089A>T (p.Glu1363Asp) c.879A>T (p.Glu293Asp) | |
| 5 | g.177260168G>A | CA362303436 | NSD1 | c.4273G>A (p.Gly1425Arg) n.4729G>A c.4837G>A (p.Gly1613Arg) n.4543G>A n.5293G>A c.5146G>A (p.Gly1716Arg) c.4339G>A (p.Gly1447Arg) c.640G>A (p.Gly214Arg) c.4726G>A (p.Gly1576Arg) c.4090G>A (p.Gly1364Arg) c.5146G>A (p.Asp1716Asn) c.880G>A (p.Gly294Arg) | dbSNP |
| 5 | g.177260168G>C | CA362303438 | NSD1 | c.4273G>C (p.Gly1425Arg) n.4729G>C c.4837G>C (p.Gly1613Arg) n.4543G>C n.5293G>C c.5146G>C (p.Gly1716Arg) c.4339G>C (p.Gly1447Arg) c.640G>C (p.Gly214Arg) c.4726G>C (p.Gly1576Arg) c.4090G>C (p.Gly1364Arg) c.5146G>C (p.Asp1716His) c.880G>C (p.Gly294Arg) | |
| 5 | g.177260168G>T | CA362303439 | NSD1 | c.4273G>T (p.Gly1425Ter) n.4729G>T c.4837G>T (p.Gly1613Ter) n.4543G>T n.5293G>T c.5146G>T (p.Gly1716Ter) c.4339G>T (p.Gly1447Ter) c.640G>T (p.Gly214Ter) c.4726G>T (p.Gly1576Ter) c.4090G>T (p.Gly1364Ter) c.5146G>T (p.Asp1716Tyr) c.880G>T (p.Gly294Ter) | |
| 5 | g.177260169G>A | CA294939 | NSD1 | c.4273+1G>A (n.4273+1G>A) n.4729+1G>A c.4837+1G>A (n.4837+1G>A) n.4543+1G>A n.5293+1G>A c.5146+1G>A (n.5146+1G>A) c.4339+1G>A (n.4339+1G>A) c.640+1G>A (n.640+1G>A) c.4726+1G>A (n.4726+1G>A) c.4090+1G>A (n.4090+1G>A) c.880+1G>A (n.880+1G>A) | ClinVar dbSNP |
| 5 | g.177260169G>C | CA362303443 | NSD1 | c.4273+1G>C (n.4273+1G>C) n.4729+1G>C c.4837+1G>C (n.4837+1G>C) n.4543+1G>C n.5293+1G>C c.5146+1G>C (n.5146+1G>C) c.4339+1G>C (n.4339+1G>C) c.640+1G>C (n.640+1G>C) c.4726+1G>C (n.4726+1G>C) c.4090+1G>C (n.4090+1G>C) c.880+1G>C (n.880+1G>C) |