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 |
|---|---|---|---|---|---|
| 18 | g.23544960_23545032del | CA2695227328 | NPC1 | c.1875_1947del (p.Ile626TrpfsTer7) n.1789_1861del c.953_1025del c.1926_1998del (p.Ile643TrpfsTer7) c.1461_1533del (p.Ile488TrpfsTer7) | |
| 18 | g.23544983T>A | CA401772182 | NPC1 | c.1924A>T (p.Met642Leu) n.1838A>T c.1002A>T c.1975A>T (p.Met659Leu) c.1510A>T (p.Met504Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544983T>C | CA401772183 | NPC1 | c.1924A>G (p.Met642Val) n.1838A>G c.1002A>G c.1975A>G (p.Met659Val) c.1510A>G (p.Met504Val) | gnomAD v4 |
| 18 | g.23544983T>G | CA401772184 | NPC1 | c.1924A>C (p.Met642Leu) n.1838A>C c.1002A>C c.1975A>C (p.Met659Leu) c.1510A>C (p.Met504Leu) | |
| 18 | g.23544983T= | CA2290168367 | NPC1 | c.1924A= (p.Met642=) n.1838A= c.1002A= c.1975A= (p.Met659=) c.1510A= (p.Met504=) | |
| 18 | g.23544984G>A | CA8913345 | NPC1 | c.1923C>T (p.His641=) n.1837C>T c.1001C>T c.1974C>T (p.His658=) c.1509C>T (p.His503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544984G>C | CA401772186 | NPC1 | c.1923C>G (p.His641Gln) n.1837C>G c.1001C>G c.1974C>G (p.His658Gln) c.1509C>G (p.His503Gln) | |
| 18 | g.23544984G= | CA2290168368 | NPC1 | c.1923C= (p.His641=) n.1837C= c.1001C= c.1974C= (p.His658=) c.1509C= (p.His503=) | |
| 18 | g.23544984G>T | CA401772185 | NPC1 | c.1923C>A (p.His641Gln) n.1837C>A c.1001C>A c.1974C>A (p.His658Gln) c.1509C>A (p.His503Gln) | gnomAD v4 |
| 18 | g.23544985T>A | CA401772189 | NPC1 | c.1922A>T (p.His641Leu) n.1836A>T c.1000A>T c.1973A>T (p.His658Leu) c.1508A>T (p.His503Leu) | |
| 18 | g.23544985T>C | CA401772187 | NPC1 | c.1922A>G (p.His641Arg) n.1836A>G c.1000A>G c.1973A>G (p.His658Arg) c.1508A>G (p.His503Arg) | |
| 18 | g.23544985T>G | CA401772188 | NPC1 | c.1922A>C (p.His641Pro) n.1836A>C c.1000A>C c.1973A>C (p.His658Pro) c.1508A>C (p.His503Pro) | gnomAD v4 |
| 18 | g.23544985_23544993delinsTGCCCCAAG | CA2290168369 | NPC1 | c.1914_1922delinsCTTGGGGCA (p.Ala638=) n.1828_1836delinsCTTGGGGCA c.992_1000delinsCTTGGGGCA c.1965_1973delinsCTTGGGGCA (p.Ala655=) c.1500_1508delinsCTTGGGGCA (p.Ala500=) | |
| 18 | g.23544986G>A | CA401772190 | NPC1 | c.1921C>T (p.His641Tyr) n.1835C>T c.999C>T c.1972C>T (p.His658Tyr) c.1507C>T (p.His503Tyr) | gnomAD v4 |
| 18 | g.23544986G>C | CA401772191 | NPC1 | c.1921C>G (p.His641Asp) n.1835C>G c.999C>G c.1972C>G (p.His658Asp) c.1507C>G (p.His503Asp) | gnomAD v4 |
| 18 | g.23544986G>T | CA401772192 | NPC1 | c.1921C>A (p.His641Asn) n.1835C>A c.999C>A c.1972C>A (p.His658Asn) c.1507C>A (p.His503Asn) | gnomAD v4 |
| 18 | g.23544986_23544987delinsGC | CA2290168370 | NPC1 | c.1920_1921delinsGC (p.Gly640=) n.1834_1835delinsGC c.998_999delinsGC c.1971_1972delinsGC (p.Gly657=) c.1506_1507delinsGC (p.Gly502=) | |
| 18 | g.23544988_23544995del | CA777725396 | NPC1 | c.1914_1921del (p.Leu639HisfsTer?) n.1828_1835del c.992_999del c.1965_1972del (p.Leu656HisfsTer?) c.1500_1507del (p.Leu501HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544987C>A | CA503521892 | NPC1 | c.1920G>T (p.Gly640=) n.1834G>T c.998G>T c.1971G>T (p.Gly657=) c.1506G>T (p.Gly502=) | gnomAD v4 |
| 18 | g.23544987C>G | CA503521893 | NPC1 | c.1920G>C (p.Gly640=) n.1834G>C c.998G>C c.1971G>C (p.Gly657=) c.1506G>C (p.Gly502=) | |
| 18 | g.23544987C>T | CA503521894 | NPC1 | c.1920G>A (p.Gly640=) n.1834G>A c.998G>A c.1971G>A (p.Gly657=) c.1506G>A (p.Gly502=) | ClinVar |
| 18 | g.23544990del | CA10604013 | NPC1 | c.1920del (p.His641ThrfsTer2) n.1834del c.998del c.1971del (p.His658ThrfsTer2) c.1506del (p.His503ThrfsTer2) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544988C>A | CA401772195 | NPC1 | c.1919G>T (p.Gly640Val) n.1833G>T c.997G>T c.1970G>T (p.Gly657Val) c.1505G>T (p.Gly502Val) | |
| 18 | g.23544988C>G | CA401772193 | NPC1 | c.1919G>C (p.Gly640Ala) n.1833G>C c.997G>C c.1970G>C (p.Gly657Ala) c.1505G>C (p.Gly502Ala) | |
| 18 | g.23544988C>T | CA401772194 | NPC1 | c.1919G>A (p.Gly640Glu) n.1833G>A c.997G>A c.1970G>A (p.Gly657Glu) c.1505G>A (p.Gly502Glu) | gnomAD v4 |
| 18 | g.23544989C>A | CA401772196 | NPC1 | c.1918G>T (p.Gly640Trp) n.1832G>T c.996G>T c.1969G>T (p.Gly657Trp) c.1504G>T (p.Gly502Trp) | |
| 18 | g.23544989C= | CA2290168371 | NPC1 | c.1918G= (p.Gly640=) n.1832G= c.996G= c.1969G= (p.Gly657=) c.1504G= (p.Gly502=) | |
| 18 | g.23544989C>G | CA401772197 | NPC1 | c.1918G>C (p.Gly640Arg) n.1832G>C c.996G>C c.1969G>C (p.Gly657Arg) c.1504G>C (p.Gly502Arg) | |
| 18 | g.23544989C>T | CA401772198 | NPC1 | c.1918G>A (p.Gly640Arg) n.1832G>A c.996G>A c.1969G>A (p.Gly657Arg) c.1504G>A (p.Gly502Arg) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544990C>A | CA401772199 | NPC1 | c.1917G>T (p.Leu639Phe) n.1831G>T c.995G>T c.1968G>T (p.Leu656Phe) c.1503G>T (p.Leu501Phe) | |
| 18 | g.23544990C>G | CA401772200 | NPC1 | c.1917G>C (p.Leu639Phe) n.1831G>C c.995G>C c.1968G>C (p.Leu656Phe) c.1503G>C (p.Leu501Phe) | |
| 18 | g.23544990C>T | CA503521895 | NPC1 | c.1917G>A (p.Leu639=) n.1831G>A c.995G>A c.1968G>A (p.Leu656=) c.1503G>A (p.Leu501=) | |
| 18 | g.23544991A>C | CA401772203 | NPC1 | c.1916T>G (p.Leu639Trp) n.1830T>G c.994T>G c.1967T>G (p.Leu656Trp) c.1502T>G (p.Leu501Trp) | gnomAD v3 gnomAD v4 |
| 18 | g.23544991A>G | CA401772201 | NPC1 | c.1916T>C (p.Leu639Ser) n.1830T>C c.994T>C c.1967T>C (p.Leu656Ser) c.1502T>C (p.Leu501Ser) | |
| 18 | g.23544991A>T | CA401772202 | NPC1 | c.1916T>A (p.Leu639Ter) n.1830T>A c.994T>A c.1967T>A (p.Leu656Ter) c.1502T>A (p.Leu501Ter) | |
| 18 | g.23544992A>C | CA401772204 | NPC1 | c.1915T>G (p.Leu639Val) n.1829T>G c.993T>G c.1966T>G (p.Leu656Val) c.1501T>G (p.Leu501Val) | gnomAD v4 |
| 18 | g.23544992A>G | CA503521897 | NPC1 | c.1915T>C (p.Leu639=) n.1829T>C c.993T>C c.1966T>C (p.Leu656=) c.1501T>C (p.Leu501=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544992A>T | CA401772205 | NPC1 | c.1915T>A (p.Leu639Met) n.1829T>A c.993T>A c.1966T>A (p.Leu656Met) c.1501T>A (p.Leu501Met) | |
| 18 | g.23544993G>A | CA503521900 | NPC1 | c.1914C>T (p.Ala638=) n.1828C>T c.992C>T c.1965C>T (p.Ala655=) c.1500C>T (p.Ala500=) | |
| 18 | g.23544993G>C | CA503521898 | NPC1 | c.1914C>G (p.Ala638=) n.1828C>G c.992C>G c.1965C>G (p.Ala655=) c.1500C>G (p.Ala500=) | |
| 18 | g.23544993G>T | CA503521899 | NPC1 | c.1914C>A (p.Ala638=) n.1828C>A c.992C>A c.1965C>A (p.Ala655=) c.1500C>A (p.Ala500=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544994G>A | CA401772206 | NPC1 | c.1913C>T (p.Ala638Val) n.1827C>T c.991C>T c.1964C>T (p.Ala655Val) c.1499C>T (p.Ala500Val) | |
| 18 | g.23544994G>C | CA401772207 | NPC1 | c.1913C>G (p.Ala638Gly) n.1827C>G c.991C>G c.1964C>G (p.Ala655Gly) c.1499C>G (p.Ala500Gly) | dbSNP gnomAD v4 |
| 18 | g.23544994G= | CA2290168372 | NPC1 | c.1913C= (p.Ala638=) n.1827C= c.991C= c.1964C= (p.Ala655=) c.1499C= (p.Ala500=) | |
| 18 | g.23544994G>T | CA401772208 | NPC1 | c.1913C>A (p.Ala638Asp) n.1827C>A c.991C>A c.1964C>A (p.Ala655Asp) c.1499C>A (p.Ala500Asp) | |
| 18 | g.23544995C>A | CA401772209 | NPC1 | c.1912G>T (p.Ala638Ser) n.1826G>T c.990G>T c.1963G>T (p.Ala655Ser) c.1498G>T (p.Ala500Ser) | |
| 18 | g.23544995C>G | CA401772210 | NPC1 | c.1912G>C (p.Ala638Pro) n.1826G>C c.990G>C c.1963G>C (p.Ala655Pro) c.1498G>C (p.Ala500Pro) | |
| 18 | g.23544995C>T | CA401772211 | NPC1 | c.1912G>A (p.Ala638Thr) n.1826G>A c.990G>A c.1963G>A (p.Ala655Thr) c.1498G>A (p.Ala500Thr) | |
| 18 | g.23544996T>A | CA503521904 | NPC1 | c.1911A>T (p.Leu637=) n.1825A>T c.989A>T c.1962A>T (p.Leu654=) c.1497A>T (p.Leu499=) | |
| 18 | g.23544996T>C | CA503521905 | NPC1 | c.1911A>G (p.Leu637=) n.1825A>G c.989A>G c.1962A>G (p.Leu654=) c.1497A>G (p.Leu499=) |