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 |
|---|---|---|---|---|---|
| Y | g.12833789A>C | CA414999044 | USP9Y | c.5123A>C (p.His1708Pro) n.5135A>C c.4889A>C (p.His1630Pro) c.5138A>C (p.His1713Pro) | |
| Y | g.12833789A>G | CA414999042 | USP9Y | c.5123A>G (p.His1708Arg) n.5135A>G c.4889A>G (p.His1630Arg) c.5138A>G (p.His1713Arg) | |
| Y | g.12833789A>T | CA414999040 | USP9Y | c.5123A>T (p.His1708Leu) n.5135A>T c.4889A>T (p.His1630Leu) c.5138A>T (p.His1713Leu) | |
| Y | g.12833790C>A | CA414999045 | USP9Y | c.5124C>A (p.His1708Gln) n.5136C>A c.4890C>A (p.His1630Gln) c.5139C>A (p.His1713Gln) | |
| Y | g.12833790C>G | CA414999047 | USP9Y | c.5124C>G (p.His1708Gln) n.5136C>G c.4890C>G (p.His1630Gln) c.5139C>G (p.His1713Gln) | |
| Y | g.12833790C>T | CA519901815 | USP9Y | c.5124C>T (p.His1708=) n.5136C>T c.4890C>T (p.His1630=) c.5139C>T (p.His1713=) | |
| Y | g.12833791C>A | CA414999049 | USP9Y | c.5125C>A (p.Pro1709Thr) n.5137C>A c.4891C>A (p.Pro1631Thr) c.5140C>A (p.Pro1714Thr) | |
| Y | g.12833791C>G | CA414999051 | USP9Y | c.5125C>G (p.Pro1709Ala) n.5137C>G c.4891C>G (p.Pro1631Ala) c.5140C>G (p.Pro1714Ala) | |
| Y | g.12833791C>T | CA414999052 | USP9Y | c.5125C>T (p.Pro1709Ser) n.5137C>T c.4891C>T (p.Pro1631Ser) c.5140C>T (p.Pro1714Ser) | |
| Y | g.12833792C>A | CA414999054 | USP9Y | c.5126C>A (p.Pro1709Gln) n.5138C>A c.4892C>A (p.Pro1631Gln) c.5141C>A (p.Pro1714Gln) | |
| Y | g.12833792C>G | CA414999056 | USP9Y | c.5126C>G (p.Pro1709Arg) n.5138C>G c.4892C>G (p.Pro1631Arg) c.5141C>G (p.Pro1714Arg) | |
| Y | g.12833792C>T | CA414999057 | USP9Y | c.5126C>T (p.Pro1709Leu) n.5138C>T c.4892C>T (p.Pro1631Leu) c.5141C>T (p.Pro1714Leu) | |
| Y | g.12833793G>A | CA10573383 | USP9Y | c.5127G>A (p.Pro1709=) n.5139G>A c.4893G>A (p.Pro1631=) c.5142G>A (p.Pro1714=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12833793G>C | CA519901826 | USP9Y | c.5127G>C (p.Pro1709=) n.5139G>C c.4893G>C (p.Pro1631=) c.5142G>C (p.Pro1714=) | |
| Y | g.12833793G= | CA2470560455 | USP9Y | c.5127G= (p.Pro1709=) n.5139G= c.4893G= (p.Pro1631=) c.5142G= (p.Pro1714=) | |
| Y | g.12833793G>T | CA519901828 | USP9Y | c.5127G>T (p.Pro1709=) n.5139G>T c.4893G>T (p.Pro1631=) c.5142G>T (p.Pro1714=) | |
| Y | g.12833794G>A | CA414999060 | USP9Y | c.5128G>A (p.Ala1710Thr) n.5140G>A c.4894G>A (p.Ala1632Thr) c.5143G>A (p.Ala1715Thr) | |
| Y | g.12833794G>C | CA414999062 | USP9Y | c.5128G>C (p.Ala1710Pro) n.5140G>C c.4894G>C (p.Ala1632Pro) c.5143G>C (p.Ala1715Pro) | |
| Y | g.12833794G= | CA2470560456 | USP9Y | c.5128G= (p.Ala1710=) n.5140G= c.4894G= (p.Ala1632=) c.5143G= (p.Ala1715=) | |
| Y | g.12833794G>T | CA414999063 | USP9Y | c.5128G>T (p.Ala1710Ser) n.5140G>T c.4894G>T (p.Ala1632Ser) c.5143G>T (p.Ala1715Ser) | dbSNP gnomAD v2 |
| Y | g.12833795C>A | CA414999065 | USP9Y | c.5129C>A (p.Ala1710Asp) n.5141C>A c.4895C>A (p.Ala1632Asp) c.5144C>A (p.Ala1715Asp) | |
| Y | g.12833795C>G | CA414999068 | USP9Y | c.5129C>G (p.Ala1710Gly) n.5141C>G c.4895C>G (p.Ala1632Gly) c.5144C>G (p.Ala1715Gly) | |
| Y | g.12833795C>T | CA414999067 | USP9Y | c.5129C>T (p.Ala1710Val) n.5141C>T c.4895C>T (p.Ala1632Val) c.5144C>T (p.Ala1715Val) | |
| Y | g.12833796T>A | CA519901837 | USP9Y | c.5130T>A (p.Ala1710=) n.5142T>A c.4896T>A (p.Ala1632=) c.5145T>A (p.Ala1715=) | |
| Y | g.12833796T>C | CA519901840 | USP9Y | c.5130T>C (p.Ala1710=) n.5142T>C c.4896T>C (p.Ala1632=) c.5145T>C (p.Ala1715=) | |
| Y | g.12833796T>G | CA519901838 | USP9Y | c.5130T>G (p.Ala1710=) n.5142T>G c.4896T>G (p.Ala1632=) c.5145T>G (p.Ala1715=) | |
| Y | g.12833797A>C | CA414999070 | USP9Y | c.5131A>C (p.Ile1711Leu) n.5143A>C c.4897A>C (p.Ile1633Leu) c.5146A>C (p.Ile1716Leu) | |
| Y | g.12833797A>G | CA414999074 | USP9Y | c.5131A>G (p.Ile1711Val) n.5143A>G c.4897A>G (p.Ile1633Val) c.5146A>G (p.Ile1716Val) | |
| Y | g.12833797A>T | CA414999072 | USP9Y | c.5131A>T (p.Ile1711Leu) n.5143A>T c.4897A>T (p.Ile1633Leu) c.5146A>T (p.Ile1716Leu) | |
| Y | g.12833798T>A | CA414999075 | USP9Y | c.5132T>A (p.Ile1711Lys) n.5144T>A c.4898T>A (p.Ile1633Lys) c.5147T>A (p.Ile1716Lys) | |
| Y | g.12833798T>C | CA414999077 | USP9Y | c.5132T>C (p.Ile1711Thr) n.5144T>C c.4898T>C (p.Ile1633Thr) c.5147T>C (p.Ile1716Thr) | |
| Y | g.12833798T>G | CA414999079 | USP9Y | c.5132T>G (p.Ile1711Arg) n.5144T>G c.4898T>G (p.Ile1633Arg) c.5147T>G (p.Ile1716Arg) | |
| Y | g.12833799A= | CA2470560457 | USP9Y | c.5133A= (p.Ile1711=) n.5145A= c.4899A= (p.Ile1633=) c.5148A= (p.Ile1716=) | |
| Y | g.12833799A>C | CA519901847 | USP9Y | c.5133A>C (p.Ile1711=) n.5145A>C c.4899A>C (p.Ile1633=) c.5148A>C (p.Ile1716=) | |
| Y | g.12833799A>G | CA414999081 | USP9Y | c.5133A>G (p.Ile1711Met) n.5145A>G c.4899A>G (p.Ile1633Met) c.5148A>G (p.Ile1716Met) | dbSNP gnomAD v2 |
| Y | g.12833799A>T | CA519901850 | USP9Y | c.5133A>T (p.Ile1711=) n.5145A>T c.4899A>T (p.Ile1633=) c.5148A>T (p.Ile1716=) | |
| Y | g.12833800C>A | CA414999082 | USP9Y | c.5134C>A (p.Leu1712Ile) n.5146C>A c.4900C>A (p.Leu1634Ile) c.5149C>A (p.Leu1717Ile) | |
| Y | g.12833800C>G | CA414999084 | USP9Y | c.5134C>G (p.Leu1712Val) n.5146C>G c.4900C>G (p.Leu1634Val) c.5149C>G (p.Leu1717Val) | |
| Y | g.12833800C>T | CA519901854 | USP9Y | c.5134C>T (p.Leu1712=) n.5146C>T c.4900C>T (p.Leu1634=) c.5149C>T (p.Leu1717=) | |
| Y | g.12833801T>A | CA414999086 | USP9Y | c.5135T>A (p.Leu1712Gln) n.5147T>A c.4901T>A (p.Leu1634Gln) c.5150T>A (p.Leu1717Gln) | |
| Y | g.12833801T>C | CA414999088 | USP9Y | c.5135T>C (p.Leu1712Pro) n.5147T>C c.4901T>C (p.Leu1634Pro) c.5150T>C (p.Leu1717Pro) | |
| Y | g.12833801T>G | CA414999089 | USP9Y | c.5135T>G (p.Leu1712Arg) n.5147T>G c.4901T>G (p.Leu1634Arg) c.5150T>G (p.Leu1717Arg) | |
| Y | g.12833802A>C | CA519901861 | USP9Y | c.5136A>C (p.Leu1712=) n.5148A>C c.4902A>C (p.Leu1634=) c.5151A>C (p.Leu1717=) | |
| Y | g.12833802A>G | CA519901866 | USP9Y | c.5136A>G (p.Leu1712=) n.5148A>G c.4902A>G (p.Leu1634=) c.5151A>G (p.Leu1717=) | |
| Y | g.12833802A>T | CA519901864 | USP9Y | c.5136A>T (p.Leu1712=) n.5148A>T c.4902A>T (p.Leu1634=) c.5151A>T (p.Leu1717=) | |
| Y | g.12833803A>C | CA414999094 | USP9Y | c.5137A>C (p.Ser1713Arg) n.5149A>C c.4903A>C (p.Ser1635Arg) c.5152A>C (p.Ser1718Arg) | |
| Y | g.12833803A>G | CA414999093 | USP9Y | c.5137A>G (p.Ser1713Gly) n.5149A>G c.4903A>G (p.Ser1635Gly) c.5152A>G (p.Ser1718Gly) | |
| Y | g.12833803A>T | CA414999092 | USP9Y | c.5137A>T (p.Ser1713Cys) n.5149A>T c.4903A>T (p.Ser1635Cys) c.5152A>T (p.Ser1718Cys) | |
| Y | g.12833804G>A | CA10573384 | USP9Y | c.5138G>A (p.Ser1713Asn) n.5150G>A c.4904G>A (p.Ser1635Asn) c.5153G>A (p.Ser1718Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12833804G>C | CA414999097 | USP9Y | c.5138G>C (p.Ser1713Thr) n.5150G>C c.4904G>C (p.Ser1635Thr) c.5153G>C (p.Ser1718Thr) |