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.23545070G>A | CA8913362 | NPC1 | c.1837C>T (p.Leu613=) n.1751C>T c.915C>T c.1888C>T (p.Leu630=) c.1423C>T (p.Leu475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23545070G>C | CA401772928 | NPC1 | c.1837C>G (p.Leu613Val) n.1751C>G c.915C>G c.1888C>G (p.Leu630Val) c.1423C>G (p.Leu475Val) | dbSNP gnomAD v4 |
| 18 | g.23545070G= | CA2290168410 | NPC1 | c.1837C= (p.Leu613=) n.1751C= c.915C= c.1888C= (p.Leu630=) c.1423C= (p.Leu475=) | |
| 18 | g.23545070G>T | CA401772931 | NPC1 | c.1837C>A (p.Leu613Ile) n.1751C>A c.915C>A c.1888C>A (p.Leu630Ile) c.1423C>A (p.Leu475Ile) | gnomAD v4 |
| 18 | g.23545071T>A | CA401772946 | NPC1 | c.1836A>T (p.Glu612Asp) n.1750A>T c.914A>T c.1887A>T (p.Glu629Asp) c.1422A>T (p.Glu474Asp) | |
| 18 | g.23545071T>C | CA503522033 | NPC1 | c.1836A>G (p.Glu612=) n.1750A>G c.914A>G c.1887A>G (p.Glu629=) c.1422A>G (p.Glu474=) | |
| 18 | g.23545071T>G | CA401772950 | NPC1 | c.1836A>C (p.Glu612Asp) n.1750A>C c.914A>C c.1887A>C (p.Glu629Asp) c.1422A>C (p.Glu474Asp) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23545071T= | CA2290168411 | NPC1 | c.1836A= (p.Glu612=) n.1750A= c.914A= c.1887A= (p.Glu629=) c.1422A= (p.Glu474=) | |
| 18 | g.23545075_23545080del | CA2695227330 | NPC1 | c.1831_1836del (p.Asp611_Glu612del) n.1745_1750del c.909_914del c.1882_1887del (p.Asp628_Glu629del) c.1417_1422del (p.Asp473_Glu474del) | |
| 18 | g.23545072T>A | CA401772953 | NPC1 | c.1835A>T (p.Glu612Val) n.1749A>T c.913A>T c.1886A>T (p.Glu629Val) c.1421A>T (p.Glu474Val) | |
| 18 | g.23545072T>C | CA401772956 | NPC1 | c.1835A>G (p.Glu612Gly) n.1749A>G c.913A>G c.1886A>G (p.Glu629Gly) c.1421A>G (p.Glu474Gly) | dbSNP COSMIC |
| 18 | g.23545072T>G | CA401772959 | NPC1 | c.1835A>C (p.Glu612Ala) n.1749A>C c.913A>C c.1886A>C (p.Glu629Ala) c.1421A>C (p.Glu474Ala) | gnomAD v4 |
| 18 | g.23545072T= | CA2290168412 | NPC1 | c.1835A= (p.Glu612=) n.1749A= c.913A= c.1886A= (p.Glu629=) c.1421A= (p.Glu474=) | |
| 18 | g.23545073C>A | CA401772962 | NPC1 | c.1834G>T (p.Glu612Ter) n.1748G>T c.912G>T c.1885G>T (p.Glu629Ter) c.1420G>T (p.Glu474Ter) | |
| 18 | g.23545073C>G | CA401772967 | NPC1 | c.1834G>C (p.Glu612Gln) n.1748G>C c.912G>C c.1885G>C (p.Glu629Gln) c.1420G>C (p.Glu474Gln) | |
| 18 | g.23545073C>T | CA401772971 | NPC1 | c.1834G>A (p.Glu612Lys) n.1748G>A c.912G>A c.1885G>A (p.Glu629Lys) c.1420G>A (p.Glu474Lys) | gnomAD v4 |
| 18 | g.23545074A>C | CA401772973 | NPC1 | c.1833T>G (p.Asp611Glu) n.1747T>G c.911T>G c.1884T>G (p.Asp628Glu) c.1419T>G (p.Asp473Glu) | |
| 18 | g.23545074A>G | CA503522034 | NPC1 | c.1833T>C (p.Asp611=) n.1747T>C c.911T>C c.1884T>C (p.Asp628=) c.1419T>C (p.Asp473=) | |
| 18 | g.23545074A>T | CA401772976 | NPC1 | c.1833T>A (p.Asp611Glu) n.1747T>A c.911T>A c.1884T>A (p.Asp628Glu) c.1419T>A (p.Asp473Glu) | |
| 18 | g.23545075T>A | CA401772981 | NPC1 | c.1832A>T (p.Asp611Val) n.1746A>T c.910A>T c.1883A>T (p.Asp628Val) c.1418A>T (p.Asp473Val) | |
| 18 | g.23545075T>C | CA269821 | NPC1 | c.1832A>G (p.Asp611Gly) n.1746A>G c.910A>G c.1883A>G (p.Asp628Gly) c.1418A>G (p.Asp473Gly) | ClinVar dbSNP |
| 18 | g.23545075T>G | CA401772987 | NPC1 | c.1832A>C (p.Asp611Ala) n.1746A>C c.910A>C c.1883A>C (p.Asp628Ala) c.1418A>C (p.Asp473Ala) | |
| 18 | g.23545075T= | CA2290168413 | NPC1 | c.1832A= (p.Asp611=) n.1746A= c.910A= c.1883A= (p.Asp628=) c.1418A= (p.Asp473=) | |
| 18 | g.23545076C>A | CA401772990 | NPC1 | c.1831G>T (p.Asp611Tyr) n.1745G>T c.909G>T c.1882G>T (p.Asp628Tyr) c.1417G>T (p.Asp473Tyr) | |
| 18 | g.23545076C>G | CA401772998 | NPC1 | c.1831G>C (p.Asp611His) n.1745G>C c.909G>C c.1882G>C (p.Asp628His) c.1417G>C (p.Asp473His) | |
| 18 | g.23545076C>T | CA401772995 | NPC1 | c.1831G>A (p.Asp611Asn) n.1745G>A c.909G>A c.1882G>A (p.Asp628Asn) c.1417G>A (p.Asp473Asn) | COSMIC |
| 18 | g.23545077T>A | CA401773001 | NPC1 | c.1830A>T (p.Glu610Asp) n.1744A>T c.908A>T c.1881A>T (p.Glu627Asp) c.1416A>T (p.Glu472Asp) | |
| 18 | g.23545077T>C | CA503522035 | NPC1 | c.1830A>G (p.Glu610=) n.1744A>G c.908A>G c.1881A>G (p.Glu627=) c.1416A>G (p.Glu472=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23545077T>G | CA401773003 | NPC1 | c.1830A>C (p.Glu610Asp) n.1744A>C c.908A>C c.1881A>C (p.Glu627Asp) c.1416A>C (p.Glu472Asp) | |
| 18 | g.23545077T= | CA2290168414 | NPC1 | c.1830A= (p.Glu610=) n.1744A= c.908A= c.1881A= (p.Glu627=) c.1416A= (p.Glu472=) | |
| 18 | g.23545078T>A | CA401773006 | NPC1 | c.1829A>T (p.Glu610Val) n.1743A>T c.907A>T c.1880A>T (p.Glu627Val) c.1415A>T (p.Glu472Val) | |
| 18 | g.23545078T>C | CA401773011 | NPC1 | c.1829A>G (p.Glu610Gly) n.1743A>G c.907A>G c.1880A>G (p.Glu627Gly) c.1415A>G (p.Glu472Gly) | |
| 18 | g.23545078T>G | CA401773014 | NPC1 | c.1829A>C (p.Glu610Ala) n.1743A>C c.907A>C c.1880A>C (p.Glu627Ala) c.1415A>C (p.Glu472Ala) | gnomAD v4 |
| 18 | g.23545079C>A | CA401773017 | NPC1 | c.1828G>T (p.Glu610Ter) n.1742G>T c.906G>T c.1879G>T (p.Glu627Ter) c.1414G>T (p.Glu472Ter) | |
| 18 | g.23545079C= | CA2290168415 | NPC1 | c.1828G= (p.Glu610=) n.1742G= c.906G= c.1879G= (p.Glu627=) c.1414G= (p.Glu472=) | |
| 18 | g.23545079C>G | CA401773019 | NPC1 | c.1828G>C (p.Glu610Gln) n.1742G>C c.906G>C c.1879G>C (p.Glu627Gln) c.1414G>C (p.Glu472Gln) | |
| 18 | g.23545079C>T | CA401773021 | NPC1 | c.1828G>A (p.Glu610Lys) n.1742G>A c.906G>A c.1879G>A (p.Glu627Lys) c.1414G>A (p.Glu472Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23545080A>C | CA401773025 | NPC1 | c.1827T>G (p.Ile609Met) n.1741T>G c.905T>G c.1878T>G (p.Ile626Met) c.1413T>G (p.Ile471Met) | |
| 18 | g.23545080A>G | CA503522036 | NPC1 | c.1827T>C (p.Ile609=) n.1741T>C c.905T>C c.1878T>C (p.Ile626=) c.1413T>C (p.Ile471=) | |
| 18 | g.23545080A>T | CA503522037 | NPC1 | c.1827T>A (p.Ile609=) n.1741T>A c.905T>A c.1878T>A (p.Ile626=) c.1413T>A (p.Ile471=) | |
| 18 | g.23545081A>C | CA401773027 | NPC1 | c.1826T>G (p.Ile609Ser) n.1740T>G c.904T>G c.1877T>G (p.Ile626Ser) c.1412T>G (p.Ile471Ser) | |
| 18 | g.23545081A>G | CA401773028 | NPC1 | c.1826T>C (p.Ile609Thr) n.1740T>C c.904T>C c.1877T>C (p.Ile626Thr) c.1412T>C (p.Ile471Thr) | gnomAD v4 |
| 18 | g.23545081A>T | CA401773031 | NPC1 | c.1826T>A (p.Ile609Asn) n.1740T>A c.904T>A c.1877T>A (p.Ile626Asn) c.1412T>A (p.Ile471Asn) | |
| 18 | g.23545082T>A | CA401773037 | NPC1 | c.1825A>T (p.Ile609Phe) n.1739A>T c.903A>T c.1876A>T (p.Ile626Phe) c.1411A>T (p.Ile471Phe) | gnomAD v4 |
| 18 | g.23545082T>C | CA401773038 | NPC1 | c.1825A>G (p.Ile609Val) n.1739A>G c.903A>G c.1876A>G (p.Ile626Val) c.1411A>G (p.Ile471Val) | |
| 18 | g.23545082T>G | CA401773034 | NPC1 | c.1825A>C (p.Ile609Leu) n.1739A>C c.903A>C c.1876A>C (p.Ile626Leu) c.1411A>C (p.Ile471Leu) | |
| 18 | g.23545083A>C | CA401773040 | NPC1 | c.1824T>G (p.Ser608Arg) n.1738T>G c.902T>G c.1875T>G (p.Ser625Arg) c.1410T>G (p.Ser470Arg) | |
| 18 | g.23545083A>G | CA503522038 | NPC1 | c.1824T>C (p.Ser608=) n.1738T>C c.902T>C c.1875T>C (p.Ser625=) c.1410T>C (p.Ser470=) | |
| 18 | g.23545083A>T | CA401773042 | NPC1 | c.1824T>A (p.Ser608Arg) n.1738T>A c.902T>A c.1875T>A (p.Ser625Arg) c.1410T>A (p.Ser470Arg) | |
| 18 | g.23545084C>A | CA401773043 | NPC1 | c.1823G>T (p.Ser608Ile) n.1737G>T c.901G>T c.1874G>T (p.Ser625Ile) c.1409G>T (p.Ser470Ile) |