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.156879154del | CA2697494528 | NTRK1 | c.1658del (p.Gly553ValfsTer?) c.*430del (n.*430del) c.1838del (p.Gly613ValfsTer?) c.1829del (p.Gly610ValfsTer?) c.1820del (p.Gly607ValfsTer?) c.1730del (p.Gly577ValfsTer?) n.2291del | dbSNP |
| 1 | g.156879154G>A | CA342939480 | NTRK1 | c.1658G>A (p.Gly553Asp) c.*430G>A (n.*430G>A) c.1838G>A (p.Gly613Asp) c.1829G>A (p.Gly610Asp) c.1820G>A (p.Gly607Asp) c.1730G>A (p.Gly577Asp) n.2291G>A | |
| 1 | g.156879154G>C | CA342939482 | NTRK1 | c.1658G>C (p.Gly553Ala) c.*430G>C (n.*430G>C) c.1838G>C (p.Gly613Ala) c.1829G>C (p.Gly610Ala) c.1820G>C (p.Gly607Ala) c.1730G>C (p.Gly577Ala) n.2291G>C | |
| 1 | g.156879154G= | CA1139773140 | NTRK1 | c.1658G= (p.Gly553=) c.*430G= (n.*430G=) c.1838G= (p.Gly613=) c.1829G= (p.Gly610=) c.1820G= (p.Gly607=) c.1730G= (p.Gly577=) n.2291G= | |
| 1 | g.156879154G>T | CA256281 | NTRK1 | c.1658G>T (p.Gly553Val) c.*430G>T (n.*430G>T) c.1838G>T (p.Gly613Val) c.1829G>T (p.Gly610Val) c.1820G>T (p.Gly607Val) c.1730G>T (p.Gly577Val) n.2291G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156879155T>A | CA421271671 | NTRK1 | c.1659T>A (p.Gly553=) c.*431T>A (n.*431T>A) c.1839T>A (p.Gly613=) c.1830T>A (p.Gly610=) c.1821T>A (p.Gly607=) c.1731T>A (p.Gly577=) n.2292T>A | dbSNP |
| 1 | g.156879155T>C | CA421271673 | NTRK1 | c.1659T>C (p.Gly553=) c.*431T>C (n.*431T>C) c.1839T>C (p.Gly613=) c.1830T>C (p.Gly610=) c.1821T>C (p.Gly607=) c.1731T>C (p.Gly577=) n.2292T>C | |
| 1 | g.156879155T>G | CA421271674 | NTRK1 | c.1659T>G (p.Gly553=) c.*431T>G (n.*431T>G) c.1839T>G (p.Gly613=) c.1830T>G (p.Gly610=) c.1821T>G (p.Gly607=) c.1731T>G (p.Gly577=) n.2292T>G | dbSNP |
| 1 | g.156879155T= | CA1200787230 | NTRK1 | c.1659T= (p.Gly553=) c.*431T= (n.*431T=) c.1839T= (p.Gly613=) c.1830T= (p.Gly610=) c.1821T= (p.Gly607=) c.1731T= (p.Gly577=) n.2292T= | |
| 1 | g.156879156G>A | CA342939485 | NTRK1 | c.1660G>A (p.Gly554Arg) c.*432G>A (n.*432G>A) c.1840G>A (p.Gly614Arg) c.1831G>A (p.Gly611Arg) c.1822G>A (p.Gly608Arg) c.1732G>A (p.Gly578Arg) n.2293G>A | dbSNP |
| 1 | g.156879156G>C | CA1169499 | NTRK1 | c.1660G>C (p.Gly554Arg) c.*432G>C (n.*432G>C) c.1840G>C (p.Gly614Arg) c.1831G>C (p.Gly611Arg) c.1822G>C (p.Gly608Arg) c.1732G>C (p.Gly578Arg) n.2293G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.156879156G= | CA1200787231 | NTRK1 | c.1660G= (p.Gly554=) c.*432G= (n.*432G=) c.1840G= (p.Gly614=) c.1831G= (p.Gly611=) c.1822G= (p.Gly608=) c.1732G= (p.Gly578=) n.2293G= | |
| 1 | g.156879156G>T | CA342939486 | NTRK1 | c.1660G>T (p.Gly554Trp) c.*432G>T (n.*432G>T) c.1840G>T (p.Gly614Trp) c.1831G>T (p.Gly611Trp) c.1822G>T (p.Gly608Trp) c.1732G>T (p.Gly578Trp) n.2293G>T | dbSNP |
| 1 | g.156879157G>A | CA342939489 | NTRK1 | c.1661G>A (p.Gly554Glu) c.*433G>A (n.*433G>A) c.1841G>A (p.Gly614Glu) c.1832G>A (p.Gly611Glu) c.1823G>A (p.Gly608Glu) c.1733G>A (p.Gly578Glu) n.2294G>A | |
| 1 | g.156879157G>C | CA342939491 | NTRK1 | c.1661G>C (p.Gly554Ala) c.*433G>C (n.*433G>C) c.1841G>C (p.Gly614Ala) c.1832G>C (p.Gly611Ala) c.1823G>C (p.Gly608Ala) c.1733G>C (p.Gly578Ala) n.2294G>C | dbSNP |
| 1 | g.156879157G>T | CA342939493 | NTRK1 | c.1661G>T (p.Gly554Val) c.*433G>T (n.*433G>T) c.1841G>T (p.Gly614Val) c.1832G>T (p.Gly611Val) c.1823G>T (p.Gly608Val) c.1733G>T (p.Gly578Val) n.2294G>T | |
| 1 | g.156879158G>A | CA421271677 | NTRK1 | c.1662G>A (p.Gly554=) c.*434G>A (n.*434G>A) c.1842G>A (p.Gly614=) c.1833G>A (p.Gly611=) c.1824G>A (p.Gly608=) c.1734G>A (p.Gly578=) n.2295G>A | ClinVar dbSNP |
| 1 | g.156879158G>C | CA421271679 | NTRK1 | c.1662G>C (p.Gly554=) c.*434G>C (n.*434G>C) c.1842G>C (p.Gly614=) c.1833G>C (p.Gly611=) c.1824G>C (p.Gly608=) c.1734G>C (p.Gly578=) n.2295G>C | dbSNP |
| 1 | g.156879158G= | CA1140614582 | NTRK1 | c.1662G= (p.Gly554=) c.*434G= (n.*434G=) c.1842G= (p.Gly614=) c.1833G= (p.Gly611=) c.1824G= (p.Gly608=) c.1734G= (p.Gly578=) n.2295G= | |
| 1 | g.156879158G>T | CA31123273 | NTRK1 | c.1662G>T (p.Gly554=) c.*434G>T (n.*434G>T) c.1842G>T (p.Gly614=) c.1833G>T (p.Gly611=) c.1824G>T (p.Gly608=) c.1734G>T (p.Gly578=) n.2295G>T | dbSNP |
| 1 | g.156879159G>A | CA342939499 | NTRK1 | c.1663G>A (p.Glu555Lys) c.*435G>A (n.*435G>A) c.1843G>A (p.Glu615Lys) c.1834G>A (p.Glu612Lys) c.1825G>A (p.Glu609Lys) c.1735G>A (p.Glu579Lys) n.2296G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.156879159G>C | CA31123286 | NTRK1 | c.1663G>C (p.Glu555Gln) c.*435G>C (n.*435G>C) c.1843G>C (p.Glu615Gln) c.1834G>C (p.Glu612Gln) c.1825G>C (p.Glu609Gln) c.1735G>C (p.Glu579Gln) n.2296G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.156879159G= | CA1142316754 | NTRK1 | c.1663G= (p.Glu555=) c.*435G= (n.*435G=) c.1843G= (p.Glu615=) c.1834G= (p.Glu612=) c.1825G= (p.Glu609=) c.1735G= (p.Glu579=) n.2296G= | |
| 1 | g.156879159G>T | CA342939497 | NTRK1 | c.1663G>T (p.Glu555Ter) c.*435G>T (n.*435G>T) c.1843G>T (p.Glu615Ter) c.1834G>T (p.Glu612Ter) c.1825G>T (p.Glu609Ter) c.1735G>T (p.Glu579Ter) n.2296G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.156879160A>C | CA342939501 | NTRK1 | c.1664A>C (p.Glu555Ala) c.*436A>C (n.*436A>C) c.1844A>C (p.Glu615Ala) c.1835A>C (p.Glu612Ala) c.1826A>C (p.Glu609Ala) c.1736A>C (p.Glu579Ala) n.2297A>C | |
| 1 | g.156879160A>G | CA342939503 | NTRK1 | c.1664A>G (p.Glu555Gly) c.*436A>G (n.*436A>G) c.1844A>G (p.Glu615Gly) c.1835A>G (p.Glu612Gly) c.1826A>G (p.Glu609Gly) c.1736A>G (p.Glu579Gly) n.2297A>G | dbSNP |
| 1 | g.156879160A>T | CA342939505 | NTRK1 | c.1664A>T (p.Glu555Val) c.*436A>T (n.*436A>T) c.1844A>T (p.Glu615Val) c.1835A>T (p.Glu612Val) c.1826A>T (p.Glu609Val) c.1736A>T (p.Glu579Val) n.2297A>T | dbSNP |
| 1 | g.156879161G>A | CA421271681 | NTRK1 | c.1665G>A (p.Glu555=) c.*437G>A (n.*437G>A) c.1845G>A (p.Glu615=) c.1836G>A (p.Glu612=) c.1827G>A (p.Glu609=) c.1737G>A (p.Glu579=) n.2298G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.156879161G>C | CA342939507 | NTRK1 | c.1665G>C (p.Glu555Asp) c.*437G>C (n.*437G>C) c.1845G>C (p.Glu615Asp) c.1836G>C (p.Glu612Asp) c.1827G>C (p.Glu609Asp) c.1737G>C (p.Glu579Asp) n.2298G>C | dbSNP |
| 1 | g.156879161G= | CA1200787232 | NTRK1 | c.1665G= (p.Glu555=) c.*437G= (n.*437G=) c.1845G= (p.Glu615=) c.1836G= (p.Glu612=) c.1827G= (p.Glu609=) c.1737G= (p.Glu579=) n.2298G= | |
| 1 | g.156879161G>T | CA342939509 | NTRK1 | c.1665G>T (p.Glu555Asp) c.*437G>T (n.*437G>T) c.1845G>T (p.Glu615Asp) c.1836G>T (p.Glu612Asp) c.1827G>T (p.Glu609Asp) c.1737G>T (p.Glu579Asp) n.2298G>T | dbSNP |
| 1 | g.156879162G>A | CA342939511 | NTRK1 | c.1666G>A (p.Asp556Asn) c.*438G>A (n.*438G>A) c.1846G>A (p.Asp616Asn) c.1837G>A (p.Asp613Asn) c.1828G>A (p.Asp610Asn) c.1738G>A (p.Asp580Asn) n.2299G>A | dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.156879162G>C | CA342939512 | NTRK1 | c.1666G>C (p.Asp556His) c.*438G>C (n.*438G>C) c.1846G>C (p.Asp616His) c.1837G>C (p.Asp613His) c.1828G>C (p.Asp610His) c.1738G>C (p.Asp580His) n.2299G>C | dbSNP |
| 1 | g.156879162G= | CA1200787233 | NTRK1 | c.1666G= (p.Asp556=) c.*438G= (n.*438G=) c.1846G= (p.Asp616=) c.1837G= (p.Asp613=) c.1828G= (p.Asp610=) c.1738G= (p.Asp580=) n.2299G= | |
| 1 | g.156879162G>T | CA1169500 | NTRK1 | c.1666G>T (p.Asp556Tyr) c.*438G>T (n.*438G>T) c.1846G>T (p.Asp616Tyr) c.1837G>T (p.Asp613Tyr) c.1828G>T (p.Asp610Tyr) c.1738G>T (p.Asp580Tyr) n.2299G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.156879163A>C | CA342939514 | NTRK1 | c.1667A>C (p.Asp556Ala) c.*439A>C (n.*439A>C) c.1847A>C (p.Asp616Ala) c.1838A>C (p.Asp613Ala) c.1829A>C (p.Asp610Ala) c.1739A>C (p.Asp580Ala) n.2300A>C | |
| 1 | g.156879163A>G | CA342939516 | NTRK1 | c.1667A>G (p.Asp556Gly) c.*439A>G (n.*439A>G) c.1847A>G (p.Asp616Gly) c.1838A>G (p.Asp613Gly) c.1829A>G (p.Asp610Gly) c.1739A>G (p.Asp580Gly) n.2300A>G | dbSNP |
| 1 | g.156879163A>T | CA342939517 | NTRK1 | c.1667A>T (p.Asp556Val) c.*439A>T (n.*439A>T) c.1847A>T (p.Asp616Val) c.1838A>T (p.Asp613Val) c.1829A>T (p.Asp610Val) c.1739A>T (p.Asp580Val) n.2300A>T | dbSNP |
| 1 | g.156879164T>A | CA342939520 | NTRK1 | c.1668T>A (p.Asp556Glu) c.*440T>A (n.*440T>A) c.1848T>A (p.Asp616Glu) c.1839T>A (p.Asp613Glu) c.1830T>A (p.Asp610Glu) c.1740T>A (p.Asp580Glu) n.2301T>A | dbSNP |
| 1 | g.156879164T>C | CA421271682 | NTRK1 | c.1668T>C (p.Asp556=) c.*440T>C (n.*440T>C) c.1848T>C (p.Asp616=) c.1839T>C (p.Asp613=) c.1830T>C (p.Asp610=) c.1740T>C (p.Asp580=) n.2301T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.156879164T>G | CA342939522 | NTRK1 | c.1668T>G (p.Asp556Glu) c.*440T>G (n.*440T>G) c.1848T>G (p.Asp616Glu) c.1839T>G (p.Asp613Glu) c.1830T>G (p.Asp610Glu) c.1740T>G (p.Asp580Glu) n.2301T>G | dbSNP |
| 1 | g.156879165G>A | CA342939524 | NTRK1 | c.1669G>A (p.Val557Met) c.*441G>A (n.*441G>A) c.1849G>A (p.Val617Met) c.1840G>A (p.Val614Met) c.1831G>A (p.Val611Met) c.1741G>A (p.Val581Met) n.2302G>A | dbSNP |
| 1 | g.156879165G>C | CA342939528 | NTRK1 | c.1669G>C (p.Val557Leu) c.*441G>C (n.*441G>C) c.1849G>C (p.Val617Leu) c.1840G>C (p.Val614Leu) c.1831G>C (p.Val611Leu) c.1741G>C (p.Val581Leu) n.2302G>C | dbSNP |
| 1 | g.156879165G= | CA1200787234 | NTRK1 | c.1669G= (p.Val557=) c.*441G= (n.*441G=) c.1849G= (p.Val617=) c.1840G= (p.Val614=) c.1831G= (p.Val611=) c.1741G= (p.Val581=) n.2302G= | |
| 1 | g.156879165G>T | CA342939526 | NTRK1 | c.1669G>T (p.Val557Leu) c.*441G>T (n.*441G>T) c.1849G>T (p.Val617Leu) c.1840G>T (p.Val614Leu) c.1831G>T (p.Val611Leu) c.1741G>T (p.Val581Leu) n.2302G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.156879166T>A | CA342939529 | NTRK1 | c.1670T>A (p.Val557Glu) c.*442T>A (n.*442T>A) c.1850T>A (p.Val617Glu) c.1841T>A (p.Val614Glu) c.1832T>A (p.Val611Glu) c.1742T>A (p.Val581Glu) n.2303T>A | |
| 1 | g.156879166T>C | CA342939530 | NTRK1 | c.1670T>C (p.Val557Ala) c.*442T>C (n.*442T>C) c.1850T>C (p.Val617Ala) c.1841T>C (p.Val614Ala) c.1832T>C (p.Val611Ala) c.1742T>C (p.Val581Ala) n.2303T>C | |
| 1 | g.156879166T>G | CA342939531 | NTRK1 | c.1670T>G (p.Val557Gly) c.*442T>G (n.*442T>G) c.1850T>G (p.Val617Gly) c.1841T>G (p.Val614Gly) c.1832T>G (p.Val611Gly) c.1742T>G (p.Val581Gly) n.2303T>G | gnomAD v4 |
| 1 | g.156879167G>A | CA421271684 | NTRK1 | c.1671G>A (p.Val557=) c.*443G>A (n.*443G>A) c.1851G>A (p.Val617=) c.1842G>A (p.Val614=) c.1833G>A (p.Val611=) c.1743G>A (p.Val581=) n.2304G>A | dbSNP |
| 1 | g.156879167G>C | CA421271685 | NTRK1 | c.1671G>C (p.Val557=) c.*443G>C (n.*443G>C) c.1851G>C (p.Val617=) c.1842G>C (p.Val614=) c.1833G>C (p.Val611=) c.1743G>C (p.Val581=) n.2304G>C | dbSNP |