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 |
|---|---|---|---|---|---|
| 1 | g.156876426_156876427delinsTC | CA1200786094 | NTRK1 | c.1479_1480delinsTC (p.Ala493=) c.*251_*252delinsTC (n.*251_*252delinsTC) c.1659_1660delinsTC (p.Ala553=) c.1650_1651delinsTC (p.Ala550=) c.1641_1642delinsTC (p.Ala547=) c.1551_1552delinsTC (p.Ala517=) n.2112_2113delinsTC | |
| 1 | g.156876426_156876438delinsTCGGCAGGACTTC | CA1200786093 | NTRK1 | c.1479_1491delinsTCGGCAGGACTTC (p.Ala493=) c.*251_*263delinsTCGGCAGGACTTC (n.*251_*263delinsTCGGCAGGACTTC) c.1659_1671delinsTCGGCAGGACTTC (p.Ala553=) c.1650_1662delinsTCGGCAGGACTTC (p.Ala550=) c.1641_1653delinsTCGGCAGGACTTC (p.Ala547=) c.1551_1563delinsTCGGCAGGACTTC (p.Ala517=) n.2112_2124delinsTCGGCAGGACTTC | |
| 1 | g.156876427del | CA341875 | NTRK1 | c.1480del (p.Arg494GlyfsTer?) c.*252del (n.*252del) c.1660del (p.Arg554GlyfsTer?) c.1651del (p.Arg551GlyfsTer?) c.1642del (p.Arg548GlyfsTer?) c.1552del (p.Arg518GlyfsTer?) n.2113del | ClinVar dbSNP gnomAD v4 |
| 1 | g.156876427C>A | CA421138552 | NTRK1 | c.1480C>A (p.Arg494=) c.*252C>A (n.*252C>A) c.1660C>A (p.Arg554=) c.1651C>A (p.Arg551=) c.1642C>A (p.Arg548=) c.1552C>A (p.Arg518=) n.2113C>A | dbSNP |
| 1 | g.156876427C= | CA1141188059 | NTRK1 | c.1480C= (p.Arg494=) c.*252C= (n.*252C=) c.1660C= (p.Arg554=) c.1651C= (p.Arg551=) c.1642C= (p.Arg548=) c.1552C= (p.Arg518=) n.2113C= | |
| 1 | g.156876427C>G | CA342938443 | NTRK1 | c.1480C>G (p.Arg494Gly) c.*252C>G (n.*252C>G) c.1660C>G (p.Arg554Gly) c.1651C>G (p.Arg551Gly) c.1642C>G (p.Arg548Gly) c.1552C>G (p.Arg518Gly) n.2113C>G | dbSNP gnomAD v4 |
| 1 | g.156876427C>T | CA1169433 | NTRK1 | c.1480C>T (p.Arg494Trp) c.*252C>T (n.*252C>T) c.1660C>T (p.Arg554Trp) c.1651C>T (p.Arg551Trp) c.1642C>T (p.Arg548Trp) c.1552C>T (p.Arg518Trp) n.2113C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876428_156876439del | CA889790057 | NTRK1 | c.1481_1492del (p.Arg494_Phe497del) c.*253_*264del (n.*253_*264del) c.1661_1672del (p.Arg554_Phe557del) c.1652_1663del (p.Arg551_Phe554del) c.1643_1654del (p.Arg548_Phe551del) c.1553_1564del (p.Arg518_Phe521del) n.2114_2125del | dbSNP |
| 1 | g.156876428G>A | CA1169434 | NTRK1 | c.1481G>A (p.Arg494Gln) c.*253G>A (n.*253G>A) c.1661G>A (p.Arg554Gln) c.1652G>A (p.Arg551Gln) c.1643G>A (p.Arg548Gln) c.1553G>A (p.Arg518Gln) n.2114G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156876428G>C | CA31118730 | NTRK1 | c.1481G>C (p.Arg494Pro) c.*253G>C (n.*253G>C) c.1661G>C (p.Arg554Pro) c.1652G>C (p.Arg551Pro) c.1643G>C (p.Arg548Pro) c.1553G>C (p.Arg518Pro) n.2114G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.156876428G= | CA1200786095 | NTRK1 | c.1481G= (p.Arg494=) c.*253G= (n.*253G=) c.1661G= (p.Arg554=) c.1652G= (p.Arg551=) c.1643G= (p.Arg548=) c.1553G= (p.Arg518=) n.2114G= | |
| 1 | g.156876428G>T | CA342938444 | NTRK1 | c.1481G>T (p.Arg494Leu) c.*253G>T (n.*253G>T) c.1661G>T (p.Arg554Leu) c.1652G>T (p.Arg551Leu) c.1643G>T (p.Arg548Leu) c.1553G>T (p.Arg518Leu) n.2114G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.156876429G>A | CA421138564 | NTRK1 | c.1482G>A (p.Arg494=) c.*254G>A (n.*254G>A) c.1662G>A (p.Arg554=) c.1653G>A (p.Arg551=) c.1644G>A (p.Arg548=) c.1554G>A (p.Arg518=) n.2115G>A | dbSNP |
| 1 | g.156876429G>C | CA421138566 | NTRK1 | c.1482G>C (p.Arg494=) c.*254G>C (n.*254G>C) c.1662G>C (p.Arg554=) c.1653G>C (p.Arg551=) c.1644G>C (p.Arg548=) c.1554G>C (p.Arg518=) n.2115G>C | dbSNP |
| 1 | g.156876429G>T | CA421138567 | NTRK1 | c.1482G>T (p.Arg494=) c.*254G>T (n.*254G>T) c.1662G>T (p.Arg554=) c.1653G>T (p.Arg551=) c.1644G>T (p.Arg548=) c.1554G>T (p.Arg518=) n.2115G>T | ClinVar |
| 1 | g.156876430C>A | CA342938445 | NTRK1 | c.1483C>A (p.Gln495Lys) c.*255C>A (n.*255C>A) c.1663C>A (p.Gln555Lys) c.1654C>A (p.Gln552Lys) c.1645C>A (p.Gln549Lys) c.1555C>A (p.Gln519Lys) n.2116C>A | |
| 1 | g.156876430C= | CA1146945738 | NTRK1 | c.1483C= (p.Gln495=) c.*255C= (n.*255C=) c.1663C= (p.Gln555=) c.1654C= (p.Gln552=) c.1645C= (p.Gln549=) c.1555C= (p.Gln519=) n.2116C= | |
| 1 | g.156876430C>G | CA342938446 | NTRK1 | c.1483C>G (p.Gln495Glu) c.*255C>G (n.*255C>G) c.1663C>G (p.Gln555Glu) c.1654C>G (p.Gln552Glu) c.1645C>G (p.Gln549Glu) c.1555C>G (p.Gln519Glu) n.2116C>G | dbSNP |
| 1 | g.156876430C>T | CA31118740 | NTRK1 | c.1483C>T (p.Gln495Ter) c.*255C>T (n.*255C>T) c.1663C>T (p.Gln555Ter) c.1654C>T (p.Gln552Ter) c.1645C>T (p.Gln549Ter) c.1555C>T (p.Gln519Ter) n.2116C>T | dbSNP |
| 1 | g.156876433_156876441dup | CA2648464053 | NTRK1 | c.1486_1494dup (p.Gln498_Arg499insAspPheGln) c.*258_*266dup (n.*258_*266dup) c.1666_1674dup (p.Gln558_Arg559insAspPheGln) c.1657_1665dup (p.Gln555_Arg556insAspPheGln) c.1648_1656dup (p.Gln552_Arg553insAspPheGln) c.1558_1566dup (p.Gln522_Arg523insAspPheGln) n.2119_2127dup | gnomAD v4 |
| 1 | g.156876431A>C | CA342938447 | NTRK1 | c.1484A>C (p.Gln495Pro) c.*256A>C (n.*256A>C) c.1664A>C (p.Gln555Pro) c.1655A>C (p.Gln552Pro) c.1646A>C (p.Gln549Pro) c.1556A>C (p.Gln519Pro) n.2117A>C | |
| 1 | g.156876431A>G | CA342938448 | NTRK1 | c.1484A>G (p.Gln495Arg) c.*256A>G (n.*256A>G) c.1664A>G (p.Gln555Arg) c.1655A>G (p.Gln552Arg) c.1646A>G (p.Gln549Arg) c.1556A>G (p.Gln519Arg) n.2117A>G | dbSNP |
| 1 | g.156876431A>T | CA342938449 | NTRK1 | c.1484A>T (p.Gln495Leu) c.*256A>T (n.*256A>T) c.1664A>T (p.Gln555Leu) c.1655A>T (p.Gln552Leu) c.1646A>T (p.Gln549Leu) c.1556A>T (p.Gln519Leu) n.2117A>T | dbSNP |
| 1 | g.156876432G>A | CA421138577 | NTRK1 | c.1485G>A (p.Gln495=) c.*257G>A (n.*257G>A) c.1665G>A (p.Gln555=) c.1656G>A (p.Gln552=) c.1647G>A (p.Gln549=) c.1557G>A (p.Gln519=) n.2118G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.156876432G>C | CA342938450 | NTRK1 | c.1485G>C (p.Gln495His) c.*257G>C (n.*257G>C) c.1665G>C (p.Gln555His) c.1656G>C (p.Gln552His) c.1647G>C (p.Gln549His) c.1557G>C (p.Gln519His) n.2118G>C | dbSNP |
| 1 | g.156876432G>T | CA342938451 | NTRK1 | c.1485G>T (p.Gln495His) c.*257G>T (n.*257G>T) c.1665G>T (p.Gln555His) c.1656G>T (p.Gln552His) c.1647G>T (p.Gln549His) c.1557G>T (p.Gln519His) n.2118G>T | dbSNP |
| 1 | g.156876433G>A | CA342938453 | NTRK1 | c.1486G>A (p.Asp496Asn) c.*258G>A (n.*258G>A) c.1666G>A (p.Asp556Asn) c.1657G>A (p.Asp553Asn) c.1648G>A (p.Asp550Asn) c.1558G>A (p.Asp520Asn) n.2119G>A | dbSNP |
| 1 | g.156876433G>C | CA342938454 | NTRK1 | c.1486G>C (p.Asp496His) c.*258G>C (n.*258G>C) c.1666G>C (p.Asp556His) c.1657G>C (p.Asp553His) c.1648G>C (p.Asp550His) c.1558G>C (p.Asp520His) n.2119G>C | dbSNP |
| 1 | g.156876433G>T | CA342938452 | NTRK1 | c.1486G>T (p.Asp496Tyr) c.*258G>T (n.*258G>T) c.1666G>T (p.Asp556Tyr) c.1657G>T (p.Asp553Tyr) c.1648G>T (p.Asp550Tyr) c.1558G>T (p.Asp520Tyr) n.2119G>T | dbSNP |
| 1 | g.156876434A>C | CA342938456 | NTRK1 | c.1487A>C (p.Asp496Ala) c.*259A>C (n.*259A>C) c.1667A>C (p.Asp556Ala) c.1658A>C (p.Asp553Ala) c.1649A>C (p.Asp550Ala) c.1559A>C (p.Asp520Ala) n.2120A>C | dbSNP gnomAD v4 |
| 1 | g.156876434A>G | CA342938455 | NTRK1 | c.1487A>G (p.Asp496Gly) c.*259A>G (n.*259A>G) c.1667A>G (p.Asp556Gly) c.1658A>G (p.Asp553Gly) c.1649A>G (p.Asp550Gly) c.1559A>G (p.Asp520Gly) n.2120A>G | dbSNP |
| 1 | g.156876434A>T | CA342938457 | NTRK1 | c.1487A>T (p.Asp496Val) c.*259A>T (n.*259A>T) c.1667A>T (p.Asp556Val) c.1658A>T (p.Asp553Val) c.1649A>T (p.Asp550Val) c.1559A>T (p.Asp520Val) n.2120A>T | dbSNP |
| 1 | g.156876435C>A | CA342938458 | NTRK1 | c.1488C>A (p.Asp496Glu) c.*260C>A (n.*260C>A) c.1668C>A (p.Asp556Glu) c.1659C>A (p.Asp553Glu) c.1650C>A (p.Asp550Glu) c.1560C>A (p.Asp520Glu) n.2121C>A | dbSNP |
| 1 | g.156876435C>G | CA342938459 | NTRK1 | c.1488C>G (p.Asp496Glu) c.*260C>G (n.*260C>G) c.1668C>G (p.Asp556Glu) c.1659C>G (p.Asp553Glu) c.1650C>G (p.Asp550Glu) c.1560C>G (p.Asp520Glu) n.2121C>G | dbSNP |
| 1 | g.156876435C>T | CA421138591 | NTRK1 | c.1488C>T (p.Asp496=) c.*260C>T (n.*260C>T) c.1668C>T (p.Asp556=) c.1659C>T (p.Asp553=) c.1650C>T (p.Asp550=) c.1560C>T (p.Asp520=) n.2121C>T | ClinVar dbSNP |
| 1 | g.156876436T>A | CA342938460 | NTRK1 | c.1489T>A (p.Phe497Ile) c.*261T>A (n.*261T>A) c.1669T>A (p.Phe557Ile) c.1660T>A (p.Phe554Ile) c.1651T>A (p.Phe551Ile) c.1561T>A (p.Phe521Ile) n.2122T>A | dbSNP |
| 1 | g.156876436T>C | CA342938461 | NTRK1 | c.1489T>C (p.Phe497Leu) c.*261T>C (n.*261T>C) c.1669T>C (p.Phe557Leu) c.1660T>C (p.Phe554Leu) c.1651T>C (p.Phe551Leu) c.1561T>C (p.Phe521Leu) n.2122T>C | dbSNP |
| 1 | g.156876436T>G | CA342938462 | NTRK1 | c.1489T>G (p.Phe497Val) c.*261T>G (n.*261T>G) c.1669T>G (p.Phe557Val) c.1660T>G (p.Phe554Val) c.1651T>G (p.Phe551Val) c.1561T>G (p.Phe521Val) n.2122T>G | |
| 1 | g.156876437T>A | CA342938463 | NTRK1 | c.1490T>A (p.Phe497Tyr) c.*262T>A (n.*262T>A) c.1670T>A (p.Phe557Tyr) c.1661T>A (p.Phe554Tyr) c.1652T>A (p.Phe551Tyr) c.1562T>A (p.Phe521Tyr) n.2123T>A | |
| 1 | g.156876437T>C | CA342938464 | NTRK1 | c.1490T>C (p.Phe497Ser) c.*262T>C (n.*262T>C) c.1670T>C (p.Phe557Ser) c.1661T>C (p.Phe554Ser) c.1652T>C (p.Phe551Ser) c.1562T>C (p.Phe521Ser) n.2123T>C | |
| 1 | g.156876437T>G | CA342938465 | NTRK1 | c.1490T>G (p.Phe497Cys) c.*262T>G (n.*262T>G) c.1670T>G (p.Phe557Cys) c.1661T>G (p.Phe554Cys) c.1652T>G (p.Phe551Cys) c.1562T>G (p.Phe521Cys) n.2123T>G | |
| 1 | g.156876437_156876438delinsAT | CA645518200 | NTRK1 | c.1490_1491delinsAT (p.Phe497Tyr) c.*262_*263delinsAT (n.*262_*263delinsAT) c.1670_1671delinsAT (p.Phe557Tyr) c.1661_1662delinsAT (p.Phe554Tyr) c.1652_1653delinsAT (p.Phe551Tyr) c.1562_1563delinsAT (p.Phe521Tyr) n.2123_2124delinsAT | COSMIC COSMIC |
| 1 | g.156876438C>A | CA342938466 | NTRK1 | c.1491C>A (p.Phe497Leu) c.*263C>A (n.*263C>A) c.1671C>A (p.Phe557Leu) c.1662C>A (p.Phe554Leu) c.1653C>A (p.Phe551Leu) c.1563C>A (p.Phe521Leu) n.2124C>A | |
| 1 | g.156876438C>G | CA342938467 | NTRK1 | c.1491C>G (p.Phe497Leu) c.*263C>G (n.*263C>G) c.1671C>G (p.Phe557Leu) c.1662C>G (p.Phe554Leu) c.1653C>G (p.Phe551Leu) c.1563C>G (p.Phe521Leu) n.2124C>G | dbSNP |
| 1 | g.156876438C>T | CA421138606 | NTRK1 | c.1491C>T (p.Phe497=) c.*263C>T (n.*263C>T) c.1671C>T (p.Phe557=) c.1662C>T (p.Phe554=) c.1653C>T (p.Phe551=) c.1563C>T (p.Phe521=) n.2124C>T | ClinVar dbSNP |
| 1 | g.156876439del | CA2648464067 | NTRK1 | c.1492del (p.Gln498SerfsTer?) c.*264del (n.*264del) c.1672del (p.Gln558SerfsTer?) c.1663del (p.Gln555SerfsTer?) c.1654del (p.Gln552SerfsTer?) c.1564del (p.Gln522SerfsTer?) n.2125del | gnomAD v4 |
| 1 | g.156876439C>A | CA342938468 | NTRK1 | c.1492C>A (p.Gln498Lys) c.*264C>A (n.*264C>A) c.1672C>A (p.Gln558Lys) c.1663C>A (p.Gln555Lys) c.1654C>A (p.Gln552Lys) c.1564C>A (p.Gln522Lys) n.2125C>A | |
| 1 | g.156876439C>G | CA342938469 | NTRK1 | c.1492C>G (p.Gln498Glu) c.*264C>G (n.*264C>G) c.1672C>G (p.Gln558Glu) c.1663C>G (p.Gln555Glu) c.1654C>G (p.Gln552Glu) c.1564C>G (p.Gln522Glu) n.2125C>G | dbSNP |
| 1 | g.156876439C>T | CA342938470 | NTRK1 | c.1492C>T (p.Gln498Ter) c.*264C>T (n.*264C>T) c.1672C>T (p.Gln558Ter) c.1663C>T (p.Gln555Ter) c.1654C>T (p.Gln552Ter) c.1564C>T (p.Gln522Ter) n.2125C>T | |
| 1 | g.156876440A= | CA1200786096 | NTRK1 | c.1493A= (p.Gln498=) c.*265A= (n.*265A=) c.1673A= (p.Gln558=) c.1664A= (p.Gln555=) c.1655A= (p.Gln552=) c.1565A= (p.Gln522=) n.2126A= |