WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101765143C>A | CA386299840 | GNPTAB | c.1774G>T (p.Ala592Ser) c.1693G>T (p.Ala565Ser) c.1558G>T (p.Ala520Ser) c.547G>T (p.Ala183Ser) | gnomAD v4 |
| 12 | g.101765143C= | CA2058955702 | GNPTAB | c.1774G= (p.Ala592=) c.1693G= (p.Ala565=) c.1558G= (p.Ala520=) c.547G= (p.Ala183=) | |
| 12 | g.101765143C>G | CA386299841 | GNPTAB | c.1774G>C (p.Ala592Pro) c.1693G>C (p.Ala565Pro) c.1558G>C (p.Ala520Pro) c.547G>C (p.Ala183Pro) | |
| 12 | g.101765143C>T | CA267599 | GNPTAB | c.1774G>A (p.Ala592Thr) c.1693G>A (p.Ala565Thr) c.1558G>A (p.Ala520Thr) c.547G>A (p.Ala183Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765144A>C | CA386299842 | GNPTAB | c.1773T>G (p.Ile591Met) c.1692T>G (p.Ile564Met) c.1557T>G (p.Ile519Met) c.546T>G (p.Ile182Met) | |
| 12 | g.101765144A>G | CA481577641 | GNPTAB | c.1773T>C (p.Ile591=) c.1692T>C (p.Ile564=) c.1557T>C (p.Ile519=) c.546T>C (p.Ile182=) | |
| 12 | g.101765144A>T | CA481577642 | GNPTAB | c.1773T>A (p.Ile591=) c.1692T>A (p.Ile564=) c.1557T>A (p.Ile519=) c.546T>A (p.Ile182=) | |
| 12 | g.101765145A>C | CA386299843 | GNPTAB | c.1772T>G (p.Ile591Ser) c.1691T>G (p.Ile564Ser) c.1556T>G (p.Ile519Ser) c.545T>G (p.Ile182Ser) | |
| 12 | g.101765145A>G | CA386299844 | GNPTAB | c.1772T>C (p.Ile591Thr) c.1691T>C (p.Ile564Thr) c.1556T>C (p.Ile519Thr) c.545T>C (p.Ile182Thr) | |
| 12 | g.101765145A>T | CA386299845 | GNPTAB | c.1772T>A (p.Ile591Asn) c.1691T>A (p.Ile564Asn) c.1556T>A (p.Ile519Asn) c.545T>A (p.Ile182Asn) | |
| 12 | g.101765147_101765148insTATA | CA2620447503 | GNPTAB | c.1772_1773insATAT (p.Ala592TyrfsTer24) c.1691_1692insATAT (p.Ala565TyrfsTer24) c.1556_1557insATAT (p.Ala520TyrfsTer24) c.545_546insATAT (p.Ala183TyrfsTer24) | gnomAD v4 |
| 12 | g.101765146T>A | CA386299848 | GNPTAB | c.1771A>T (p.Ile591Phe) c.1690A>T (p.Ile564Phe) c.1555A>T (p.Ile519Phe) c.544A>T (p.Ile182Phe) | |
| 12 | g.101765146T>C | CA386299847 | GNPTAB | c.1771A>G (p.Ile591Val) c.1690A>G (p.Ile564Val) c.1555A>G (p.Ile519Val) c.544A>G (p.Ile182Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765146T>G | CA386299846 | GNPTAB | c.1771A>C (p.Ile591Leu) c.1690A>C (p.Ile564Leu) c.1555A>C (p.Ile519Leu) c.544A>C (p.Ile182Leu) | |
| 12 | g.101765146T= | CA2058955703 | GNPTAB | c.1771A= (p.Ile591=) c.1690A= (p.Ile564=) c.1555A= (p.Ile519=) c.544A= (p.Ile182=) | |
| 12 | g.101765147A>C | CA481577643 | GNPTAB | c.1770T>G (p.Ser590=) c.1689T>G (p.Ser563=) c.1554T>G (p.Ser518=) c.543T>G (p.Ser181=) | |
| 12 | g.101765147A>G | CA481577645 | GNPTAB | c.1770T>C (p.Ser590=) c.1689T>C (p.Ser563=) c.1554T>C (p.Ser518=) c.543T>C (p.Ser181=) | ClinVar gnomAD v4 |
| 12 | g.101765147A>T | CA481577644 | GNPTAB | c.1770T>A (p.Ser590=) c.1689T>A (p.Ser563=) c.1554T>A (p.Ser518=) c.543T>A (p.Ser181=) | |
| 12 | g.101765148G>A | CA386299849 | GNPTAB | c.1769C>T (p.Ser590Phe) c.1688C>T (p.Ser563Phe) c.1553C>T (p.Ser518Phe) c.542C>T (p.Ser181Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765148G>C | CA386299850 | GNPTAB | c.1769C>G (p.Ser590Cys) c.1688C>G (p.Ser563Cys) c.1553C>G (p.Ser518Cys) c.542C>G (p.Ser181Cys) | gnomAD v4 |
| 12 | g.101765148G= | CA2058955704 | GNPTAB | c.1769C= (p.Ser590=) c.1688C= (p.Ser563=) c.1553C= (p.Ser518=) c.542C= (p.Ser181=) | |
| 12 | g.101765148G>T | CA386299851 | GNPTAB | c.1769C>A (p.Ser590Tyr) c.1688C>A (p.Ser563Tyr) c.1553C>A (p.Ser518Tyr) c.542C>A (p.Ser181Tyr) | |
| 12 | g.101765149A>C | CA386299852 | GNPTAB | c.1768T>G (p.Ser590Ala) c.1687T>G (p.Ser563Ala) c.1552T>G (p.Ser518Ala) c.541T>G (p.Ser181Ala) | |
| 12 | g.101765149A>G | CA386299853 | GNPTAB | c.1768T>C (p.Ser590Pro) c.1687T>C (p.Ser563Pro) c.1552T>C (p.Ser518Pro) c.541T>C (p.Ser181Pro) | |
| 12 | g.101765149A>T | CA386299854 | GNPTAB | c.1768T>A (p.Ser590Thr) c.1687T>A (p.Ser563Thr) c.1552T>A (p.Ser518Thr) c.541T>A (p.Ser181Thr) | |
| 12 | g.101765150A= | CA2058955705 | GNPTAB | c.1767T= (p.Ala589=) c.1686T= (p.Ala562=) c.1551T= (p.Ala517=) c.540T= (p.Ala180=) | |
| 12 | g.101765150A>C | CA481577646 | GNPTAB | c.1767T>G (p.Ala589=) c.1686T>G (p.Ala562=) c.1551T>G (p.Ala517=) c.540T>G (p.Ala180=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101765150A>G | CA481577647 | GNPTAB | c.1767T>C (p.Ala589=) c.1686T>C (p.Ala562=) c.1551T>C (p.Ala517=) c.540T>C (p.Ala180=) | |
| 12 | g.101765150A>T | CA481577648 | GNPTAB | c.1767T>A (p.Ala589=) c.1686T>A (p.Ala562=) c.1551T>A (p.Ala517=) c.540T>A (p.Ala180=) | |
| 12 | g.101765151G>A | CA6746533 | GNPTAB | c.1766C>T (p.Ala589Val) c.1685C>T (p.Ala562Val) c.1550C>T (p.Ala517Val) c.539C>T (p.Ala180Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.101765151G>C | CA386299855 | GNPTAB | c.1766C>G (p.Ala589Gly) c.1685C>G (p.Ala562Gly) c.1550C>G (p.Ala517Gly) c.539C>G (p.Ala180Gly) | |
| 12 | g.101765151G= | CA2058955706 | GNPTAB | c.1766C= (p.Ala589=) c.1685C= (p.Ala562=) c.1550C= (p.Ala517=) c.539C= (p.Ala180=) | |
| 12 | g.101765151G>T | CA386299856 | GNPTAB | c.1766C>A (p.Ala589Asp) c.1685C>A (p.Ala562Asp) c.1550C>A (p.Ala517Asp) c.539C>A (p.Ala180Asp) | |
| 12 | g.101765152C>A | CA386299857 | GNPTAB | c.1765G>T (p.Ala589Ser) c.1684G>T (p.Ala562Ser) c.1549G>T (p.Ala517Ser) c.538G>T (p.Ala180Ser) | |
| 12 | g.101765152C= | CA2058955707 | GNPTAB | c.1765G= (p.Ala589=) c.1684G= (p.Ala562=) c.1549G= (p.Ala517=) c.538G= (p.Ala180=) | |
| 12 | g.101765152C>G | CA386299858 | GNPTAB | c.1765G>C (p.Ala589Pro) c.1684G>C (p.Ala562Pro) c.1549G>C (p.Ala517Pro) c.538G>C (p.Ala180Pro) | |
| 12 | g.101765152C>T | CA386299859 | GNPTAB | c.1765G>A (p.Ala589Thr) c.1684G>A (p.Ala562Thr) c.1549G>A (p.Ala517Thr) c.538G>A (p.Ala180Thr) | dbSNP |
| 12 | g.101765153A>C | CA386299861 | GNPTAB | c.1764T>G (p.His588Gln) c.1683T>G (p.His561Gln) c.1548T>G (p.His516Gln) c.537T>G (p.His179Gln) | |
| 12 | g.101765153A>G | CA481577649 | GNPTAB | c.1764T>C (p.His588=) c.1683T>C (p.His561=) c.1548T>C (p.His516=) c.537T>C (p.His179=) | gnomAD v4 |
| 12 | g.101765153A>T | CA386299860 | GNPTAB | c.1764T>A (p.His588Gln) c.1683T>A (p.His561Gln) c.1548T>A (p.His516Gln) c.537T>A (p.His179Gln) | |
| 12 | g.101765154T>A | CA386299862 | GNPTAB | c.1763A>T (p.His588Leu) c.1682A>T (p.His561Leu) c.1547A>T (p.His516Leu) c.536A>T (p.His179Leu) | |
| 12 | g.101765154T>C | CA386299863 | GNPTAB | c.1763A>G (p.His588Arg) c.1682A>G (p.His561Arg) c.1547A>G (p.His516Arg) c.536A>G (p.His179Arg) | |
| 12 | g.101765154T>G | CA386299864 | GNPTAB | c.1763A>C (p.His588Pro) c.1682A>C (p.His561Pro) c.1547A>C (p.His516Pro) c.536A>C (p.His179Pro) | |
| 12 | g.101765154dup | CA2695217208 | GNPTAB | c.1763dup (p.His588GlnfsTer27) c.1682dup (p.His561GlnfsTer27) c.1547dup (p.His516GlnfsTer27) c.536dup (p.His179GlnfsTer27) | |
| 12 | g.101765155G>A | CA386299865 | GNPTAB | c.1762C>T (p.His588Tyr) c.1681C>T (p.His561Tyr) c.1546C>T (p.His516Tyr) c.535C>T (p.His179Tyr) | |
| 12 | g.101765155G>C | CA386299866 | GNPTAB | c.1762C>G (p.His588Asp) c.1681C>G (p.His561Asp) c.1546C>G (p.His516Asp) c.535C>G (p.His179Asp) | |
| 12 | g.101765155G>T | CA386299867 | GNPTAB | c.1762C>A (p.His588Asn) c.1681C>A (p.His561Asn) c.1546C>A (p.His516Asn) c.535C>A (p.His179Asn) | |
| 12 | g.101765156T>A | CA481577650 | GNPTAB | c.1761A>T (p.Arg587=) c.1680A>T (p.Arg560=) c.1545A>T (p.Arg515=) c.534A>T (p.Arg178=) | |
| 12 | g.101765156T>C | CA481577651 | GNPTAB | c.1761A>G (p.Arg587=) c.1680A>G (p.Arg560=) c.1545A>G (p.Arg515=) c.534A>G (p.Arg178=) | |
| 12 | g.101765156T>G | CA481577652 | GNPTAB | c.1761A>C (p.Arg587=) c.1680A>C (p.Arg560=) c.1545A>C (p.Arg515=) c.534A>C (p.Arg178=) |