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 |
|---|---|---|---|---|---|
| 19 | g.17890930del | CA645602296 | SLC5A5 | c.1696del (p.Asp566ThrfsTer?) c.1729del (p.Asp577ThrfsTer?) c.1462del (p.Asp488ThrfsTer?) c.1363del (p.Asp455ThrfsTer?) c.1429del (p.Asp477ThrfsTer?) | COSMIC |
| 19 | g.17890930G>A | CA404770912 | SLC5A5 | c.1696G>A (p.Asp566Asn) c.1729G>A (p.Asp577Asn) c.1462G>A (p.Asp488Asn) c.1363G>A (p.Asp455Asn) c.1429G>A (p.Asp477Asn) | |
| 19 | g.17890930G>C | CA404770919 | SLC5A5 | c.1696G>C (p.Asp566His) c.1729G>C (p.Asp577His) c.1462G>C (p.Asp488His) c.1363G>C (p.Asp455His) c.1429G>C (p.Asp477His) | |
| 19 | g.17890930G>T | CA404770916 | SLC5A5 | c.1696G>T (p.Asp566Tyr) c.1729G>T (p.Asp577Tyr) c.1462G>T (p.Asp488Tyr) c.1363G>T (p.Asp455Tyr) c.1429G>T (p.Asp477Tyr) | |
| 19 | g.17890931A>C | CA404770923 | SLC5A5 | c.1697A>C (p.Asp566Ala) c.1730A>C (p.Asp577Ala) c.1463A>C (p.Asp488Ala) c.1364A>C (p.Asp455Ala) c.1430A>C (p.Asp477Ala) | |
| 19 | g.17890931A>G | CA404770928 | SLC5A5 | c.1697A>G (p.Asp566Gly) c.1730A>G (p.Asp577Gly) c.1463A>G (p.Asp488Gly) c.1364A>G (p.Asp455Gly) c.1430A>G (p.Asp477Gly) | |
| 19 | g.17890931A>T | CA404770925 | SLC5A5 | c.1697A>T (p.Asp566Val) c.1730A>T (p.Asp577Val) c.1463A>T (p.Asp488Val) c.1364A>T (p.Asp455Val) c.1430A>T (p.Asp477Val) | |
| 19 | g.17890932C>A | CA404770931 | SLC5A5 | c.1698C>A (p.Asp566Glu) c.1731C>A (p.Asp577Glu) c.1464C>A (p.Asp488Glu) c.1365C>A (p.Asp455Glu) c.1431C>A (p.Asp477Glu) | gnomAD v4 |
| 19 | g.17890932C= | CA2326081792 | SLC5A5 | c.1698C= (p.Asp566=) c.1731C= (p.Asp577=) c.1464C= (p.Asp488=) c.1365C= (p.Asp455=) c.1431C= (p.Asp477=) | |
| 19 | g.17890932C>G | CA404770934 | SLC5A5 | c.1698C>G (p.Asp566Glu) c.1731C>G (p.Asp577Glu) c.1464C>G (p.Asp488Glu) c.1365C>G (p.Asp455Glu) c.1431C>G (p.Asp477Glu) | |
| 19 | g.17890932C>T | CA506001140 | SLC5A5 | c.1698C>T (p.Asp566=) c.1731C>T (p.Asp577=) c.1464C>T (p.Asp488=) c.1365C>T (p.Asp455=) c.1431C>T (p.Asp477=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17890933C>A | CA404770939 | SLC5A5 | c.1699C>A (p.Leu567Ile) c.1732C>A (p.Leu578Ile) c.1465C>A (p.Leu489Ile) c.1366C>A (p.Leu456Ile) c.1432C>A (p.Leu478Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.17890933C= | CA2326081793 | SLC5A5 | c.1699C= (p.Leu567=) c.1732C= (p.Leu578=) c.1465C= (p.Leu489=) c.1366C= (p.Leu456=) c.1432C= (p.Leu478=) | |
| 19 | g.17890933C>G | CA404770941 | SLC5A5 | c.1699C>G (p.Leu567Val) c.1732C>G (p.Leu578Val) c.1465C>G (p.Leu489Val) c.1366C>G (p.Leu456Val) c.1432C>G (p.Leu478Val) | |
| 19 | g.17890933C>T | CA404770944 | SLC5A5 | c.1699C>T (p.Leu567Phe) c.1732C>T (p.Leu578Phe) c.1465C>T (p.Leu489Phe) c.1366C>T (p.Leu456Phe) c.1432C>T (p.Leu478Phe) | |
| 19 | g.17890934T>A | CA404770948 | SLC5A5 | c.1700T>A (p.Leu567His) c.1733T>A (p.Leu578His) c.1466T>A (p.Leu489His) c.1367T>A (p.Leu456His) c.1433T>A (p.Leu478His) | |
| 19 | g.17890934T>C | CA404770951 | SLC5A5 | c.1700T>C (p.Leu567Pro) c.1733T>C (p.Leu578Pro) c.1466T>C (p.Leu489Pro) c.1367T>C (p.Leu456Pro) c.1433T>C (p.Leu478Pro) | |
| 19 | g.17890934T>G | CA404770954 | SLC5A5 | c.1700T>G (p.Leu567Arg) c.1733T>G (p.Leu578Arg) c.1466T>G (p.Leu489Arg) c.1367T>G (p.Leu456Arg) c.1433T>G (p.Leu478Arg) | |
| 19 | g.17890935C>A | CA506001142 | SLC5A5 | c.1701C>A (p.Leu567=) c.1734C>A (p.Leu578=) c.1467C>A (p.Leu489=) c.1368C>A (p.Leu456=) c.1434C>A (p.Leu478=) | COSMIC |
| 19 | g.17890935C= | CA2326081794 | SLC5A5 | c.1701C= (p.Leu567=) c.1734C= (p.Leu578=) c.1467C= (p.Leu489=) c.1368C= (p.Leu456=) c.1434C= (p.Leu478=) | |
| 19 | g.17890935C>G | CA506001143 | SLC5A5 | c.1701C>G (p.Leu567=) c.1734C>G (p.Leu578=) c.1467C>G (p.Leu489=) c.1368C>G (p.Leu456=) c.1434C>G (p.Leu478=) | |
| 19 | g.17890935C>T | CA9303278 | SLC5A5 | c.1701C>T (p.Leu567=) c.1734C>T (p.Leu578=) c.1467C>T (p.Leu489=) c.1368C>T (p.Leu456=) c.1434C>T (p.Leu478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17890936G>A | CA9303279 | SLC5A5 | c.1702G>A (p.Ala568Thr) c.1735G>A (p.Ala579Thr) c.1468G>A (p.Ala490Thr) c.1369G>A (p.Ala457Thr) c.1435G>A (p.Ala479Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.17890936G>C | CA404770962 | SLC5A5 | c.1702G>C (p.Ala568Pro) c.1735G>C (p.Ala579Pro) c.1468G>C (p.Ala490Pro) c.1369G>C (p.Ala457Pro) c.1435G>C (p.Ala479Pro) | gnomAD v4 |
| 19 | g.17890936G= | CA2326081795 | SLC5A5 | c.1702G= (p.Ala568=) c.1735G= (p.Ala579=) c.1468G= (p.Ala490=) c.1369G= (p.Ala457=) c.1435G= (p.Ala479=) | |
| 19 | g.17890936G>T | CA404770965 | SLC5A5 | c.1702G>T (p.Ala568Ser) c.1735G>T (p.Ala579Ser) c.1468G>T (p.Ala490Ser) c.1369G>T (p.Ala457Ser) c.1435G>T (p.Ala479Ser) | |
| 19 | g.17890937C>A | CA404770969 | SLC5A5 | c.1703C>A (p.Ala568Glu) c.1736C>A (p.Ala579Glu) c.1469C>A (p.Ala490Glu) c.1370C>A (p.Ala457Glu) c.1436C>A (p.Ala479Glu) | |
| 19 | g.17890937C>G | CA404770978 | SLC5A5 | c.1703C>G (p.Ala568Gly) c.1736C>G (p.Ala579Gly) c.1469C>G (p.Ala490Gly) c.1370C>G (p.Ala457Gly) c.1436C>G (p.Ala479Gly) | |
| 19 | g.17890937C>T | CA404770975 | SLC5A5 | c.1703C>T (p.Ala568Val) c.1736C>T (p.Ala579Val) c.1469C>T (p.Ala490Val) c.1370C>T (p.Ala457Val) c.1436C>T (p.Ala479Val) | |
| 19 | g.17890938A>C | CA506001147 | SLC5A5 | c.1704A>C (p.Ala568=) c.1737A>C (p.Ala579=) c.1470A>C (p.Ala490=) c.1371A>C (p.Ala457=) c.1437A>C (p.Ala479=) | |
| 19 | g.17890938A>G | CA506001146 | SLC5A5 | c.1704A>G (p.Ala568=) c.1737A>G (p.Ala579=) c.1470A>G (p.Ala490=) c.1371A>G (p.Ala457=) c.1437A>G (p.Ala479=) | gnomAD v4 |
| 19 | g.17890938A>T | CA506001145 | SLC5A5 | c.1704A>T (p.Ala568=) c.1737A>T (p.Ala579=) c.1470A>T (p.Ala490=) c.1371A>T (p.Ala457=) c.1437A>T (p.Ala479=) | |
| 19 | g.17890939C>A | CA506001148 | SLC5A5 | c.1705C>A (p.Arg569=) c.1738C>A (p.Arg580=) c.1471C>A (p.Arg491=) c.1372C>A (p.Arg458=) c.1438C>A (p.Arg480=) | ClinVar gnomAD v4 |
| 19 | g.17890939C= | CA2326081796 | SLC5A5 | c.1705C= (p.Arg569=) c.1738C= (p.Arg580=) c.1471C= (p.Arg491=) c.1372C= (p.Arg458=) c.1438C= (p.Arg480=) | |
| 19 | g.17890939C>G | CA404770982 | SLC5A5 | c.1705C>G (p.Arg569Gly) c.1738C>G (p.Arg580Gly) c.1471C>G (p.Arg491Gly) c.1372C>G (p.Arg458Gly) c.1438C>G (p.Arg480Gly) | |
| 19 | g.17890939C>T | CA9303280 | SLC5A5 | c.1705C>T (p.Arg569Trp) c.1738C>T (p.Arg580Trp) c.1471C>T (p.Arg491Trp) c.1372C>T (p.Arg458Trp) c.1438C>T (p.Arg480Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.17890940G>A | CA9303281 | SLC5A5 | c.1706G>A (p.Arg569Gln) c.1739G>A (p.Arg580Gln) c.1472G>A (p.Arg491Gln) c.1373G>A (p.Arg458Gln) c.1439G>A (p.Arg480Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17890940G>C | CA404770997 | SLC5A5 | c.1706G>C (p.Arg569Pro) c.1739G>C (p.Arg580Pro) c.1472G>C (p.Arg491Pro) c.1373G>C (p.Arg458Pro) c.1439G>C (p.Arg480Pro) | |
| 19 | g.17890940G= | CA2326081797 | SLC5A5 | c.1706G= (p.Arg569=) c.1739G= (p.Arg580=) c.1472G= (p.Arg491=) c.1373G= (p.Arg458=) c.1439G= (p.Arg480=) | |
| 19 | g.17890940G>T | CA404771001 | SLC5A5 | c.1706G>T (p.Arg569Leu) c.1739G>T (p.Arg580Leu) c.1472G>T (p.Arg491Leu) c.1373G>T (p.Arg458Leu) c.1439G>T (p.Arg480Leu) | |
| 19 | g.17890941G>A | CA9303282 | SLC5A5 | c.1707G>A (p.Arg569=) c.1740G>A (p.Arg580=) c.1473G>A (p.Arg491=) c.1374G>A (p.Arg458=) c.1440G>A (p.Arg480=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.17890941G>C | CA506001152 | SLC5A5 | c.1707G>C (p.Arg569=) c.1740G>C (p.Arg580=) c.1473G>C (p.Arg491=) c.1374G>C (p.Arg458=) c.1440G>C (p.Arg480=) | |
| 19 | g.17890941G= | CA2326081798 | SLC5A5 | c.1707G= (p.Arg569=) c.1740G= (p.Arg580=) c.1473G= (p.Arg491=) c.1374G= (p.Arg458=) c.1440G= (p.Arg480=) | |
| 19 | g.17890941G>T | CA506001153 | SLC5A5 | c.1707G>T (p.Arg569=) c.1740G>T (p.Arg580=) c.1473G>T (p.Arg491=) c.1374G>T (p.Arg458=) c.1440G>T (p.Arg480=) | |
| 19 | g.17890942C>A | CA404771013 | SLC5A5 | c.1708C>A (p.Gln570Lys) c.1741C>A (p.Gln581Lys) c.1474C>A (p.Gln492Lys) c.1375C>A (p.Gln459Lys) c.1441C>A (p.Gln481Lys) | |
| 19 | g.17890942C>G | CA404771015 | SLC5A5 | c.1708C>G (p.Gln570Glu) c.1741C>G (p.Gln581Glu) c.1474C>G (p.Gln492Glu) c.1375C>G (p.Gln459Glu) c.1441C>G (p.Gln481Glu) | COSMIC |
| 19 | g.17890942C>T | CA404771019 | SLC5A5 | c.1708C>T (p.Gln570Ter) c.1741C>T (p.Gln581Ter) c.1474C>T (p.Gln492Ter) c.1375C>T (p.Gln459Ter) c.1441C>T (p.Gln481Ter) | |
| 19 | g.17890943A>C | CA404771029 | SLC5A5 | c.1709A>C (p.Gln570Pro) c.1742A>C (p.Gln581Pro) c.1475A>C (p.Gln492Pro) c.1376A>C (p.Gln459Pro) c.1442A>C (p.Gln481Pro) | |
| 19 | g.17890943A>G | CA404771026 | SLC5A5 | c.1709A>G (p.Gln570Arg) c.1742A>G (p.Gln581Arg) c.1475A>G (p.Gln492Arg) c.1376A>G (p.Gln459Arg) c.1442A>G (p.Gln481Arg) | |
| 19 | g.17890943A>T | CA404771023 | SLC5A5 | c.1709A>T (p.Gln570Leu) c.1742A>T (p.Gln581Leu) c.1475A>T (p.Gln492Leu) c.1376A>T (p.Gln459Leu) c.1442A>T (p.Gln481Leu) |