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.41978053T>A | CA406045243 | ATP1A3 | c.1865A>T (p.Asp622Val) c.1826A>T (p.Asp609Val) c.1859A>T (p.Asp620Val) c.1736A>T (p.Asp579Val) | |
| 19 | g.41978053T>C | CA406045245 | ATP1A3 | c.1865A>G (p.Asp622Gly) c.1826A>G (p.Asp609Gly) c.1859A>G (p.Asp620Gly) c.1736A>G (p.Asp579Gly) | |
| 19 | g.41978053T>G | CA406045246 | ATP1A3 | c.1865A>C (p.Asp622Ala) c.1826A>C (p.Asp609Ala) c.1859A>C (p.Asp620Ala) c.1736A>C (p.Asp579Ala) | |
| 19 | g.41978054C>A | CA406045249 | ATP1A3 | c.1864G>T (p.Asp622Tyr) c.1825G>T (p.Asp609Tyr) c.1858G>T (p.Asp620Tyr) c.1735G>T (p.Asp579Tyr) | ClinVar |
| 19 | g.41978054C= | CA2336724852 | ATP1A3 | c.1864G= (p.Asp622=) c.1825G= (p.Asp609=) c.1858G= (p.Asp620=) c.1735G= (p.Asp579=) | |
| 19 | g.41978054C>G | CA406045250 | ATP1A3 | c.1864G>C (p.Asp622His) c.1825G>C (p.Asp609His) c.1858G>C (p.Asp620His) c.1735G>C (p.Asp579His) | |
| 19 | g.41978054C>T | CA406045252 | ATP1A3 | c.1864G>A (p.Asp622Asn) c.1825G>A (p.Asp609Asn) c.1858G>A (p.Asp620Asn) c.1735G>A (p.Asp579Asn) | ClinVar dbSNP |
| 19 | g.41978055G>A | CA9467551 | ATP1A3 | c.1863C>T (p.Gly621=) c.1824C>T (p.Gly608=) c.1857C>T (p.Gly619=) c.1734C>T (p.Gly578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978055G>C | CA507586798 | ATP1A3 | c.1863C>G (p.Gly621=) c.1824C>G (p.Gly608=) c.1857C>G (p.Gly619=) c.1734C>G (p.Gly578=) | |
| 19 | g.41978055G= | CA2336724853 | ATP1A3 | c.1863C= (p.Gly621=) c.1824C= (p.Gly608=) c.1857C= (p.Gly619=) c.1734C= (p.Gly578=) | |
| 19 | g.41978055G>T | CA507586797 | ATP1A3 | c.1863C>A (p.Gly621=) c.1824C>A (p.Gly608=) c.1857C>A (p.Gly619=) c.1734C>A (p.Gly578=) | |
| 19 | g.41978056C>A | CA406045254 | ATP1A3 | c.1862G>T (p.Gly621Val) c.1823G>T (p.Gly608Val) c.1856G>T (p.Gly619Val) c.1733G>T (p.Gly578Val) | |
| 19 | g.41978056C>G | CA406045258 | ATP1A3 | c.1862G>C (p.Gly621Ala) c.1823G>C (p.Gly608Ala) c.1856G>C (p.Gly619Ala) c.1733G>C (p.Gly578Ala) | |
| 19 | g.41978056C>T | CA406045256 | ATP1A3 | c.1862G>A (p.Gly621Asp) c.1823G>A (p.Gly608Asp) c.1856G>A (p.Gly619Asp) c.1733G>A (p.Gly578Asp) | |
| 19 | g.41978057C>A | CA406045260 | ATP1A3 | c.1861G>T (p.Gly621Cys) c.1822G>T (p.Gly608Cys) c.1855G>T (p.Gly619Cys) c.1732G>T (p.Gly578Cys) | |
| 19 | g.41978057C>G | CA406045262 | ATP1A3 | c.1861G>C (p.Gly621Arg) c.1822G>C (p.Gly608Arg) c.1855G>C (p.Gly619Arg) c.1732G>C (p.Gly578Arg) | |
| 19 | g.41978057C>T | CA406045264 | ATP1A3 | c.1861G>A (p.Gly621Ser) c.1822G>A (p.Gly608Ser) c.1855G>A (p.Gly619Ser) c.1732G>A (p.Gly578Ser) | |
| 19 | g.41978058G>A | CA9467552 | ATP1A3 | c.1860C>T (p.Thr620=) c.1821C>T (p.Thr607=) c.1854C>T (p.Thr618=) c.1731C>T (p.Thr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978058G>C | CA507586809 | ATP1A3 | c.1860C>G (p.Thr620=) c.1821C>G (p.Thr607=) c.1854C>G (p.Thr618=) c.1731C>G (p.Thr577=) | |
| 19 | g.41978058G= | CA2336724854 | ATP1A3 | c.1860C= (p.Thr620=) c.1821C= (p.Thr607=) c.1854C= (p.Thr618=) c.1731C= (p.Thr577=) | |
| 19 | g.41978058G>T | CA9467553 | ATP1A3 | c.1860C>A (p.Thr620=) c.1821C>A (p.Thr607=) c.1854C>A (p.Thr618=) c.1731C>A (p.Thr577=) | dbSNP ExAC gnomAD v2 |
| 19 | g.41978059G>A | CA406045268 | ATP1A3 | c.1859C>T (p.Thr620Ile) c.1820C>T (p.Thr607Ile) c.1853C>T (p.Thr618Ile) c.1730C>T (p.Thr577Ile) | ClinVar dbSNP |
| 19 | g.41978059G>C | CA406045266 | ATP1A3 | c.1859C>G (p.Thr620Ser) c.1820C>G (p.Thr607Ser) c.1853C>G (p.Thr618Ser) c.1730C>G (p.Thr577Ser) | |
| 19 | g.41978059G>T | CA406045265 | ATP1A3 | c.1859C>A (p.Thr620Asn) c.1820C>A (p.Thr607Asn) c.1853C>A (p.Thr618Asn) c.1730C>A (p.Thr577Asn) | |
| 19 | g.41978060T>A | CA406045270 | ATP1A3 | c.1858A>T (p.Thr620Ser) c.1819A>T (p.Thr607Ser) c.1852A>T (p.Thr618Ser) c.1729A>T (p.Thr577Ser) | |
| 19 | g.41978060T>C | CA406045272 | ATP1A3 | c.1858A>G (p.Thr620Ala) c.1819A>G (p.Thr607Ala) c.1852A>G (p.Thr618Ala) c.1729A>G (p.Thr577Ala) | |
| 19 | g.41978060T>G | CA406045273 | ATP1A3 | c.1858A>C (p.Thr620Pro) c.1819A>C (p.Thr607Pro) c.1852A>C (p.Thr618Pro) c.1729A>C (p.Thr577Pro) | |
| 19 | g.41978061G>A | CA507586818 | ATP1A3 | c.1857C>T (p.Val619=) c.1818C>T (p.Val606=) c.1851C>T (p.Val617=) c.1728C>T (p.Val576=) | |
| 19 | g.41978061G>C | CA507586820 | ATP1A3 | c.1857C>G (p.Val619=) c.1818C>G (p.Val606=) c.1851C>G (p.Val617=) c.1728C>G (p.Val576=) | |
| 19 | g.41978061G>T | CA507586822 | ATP1A3 | c.1857C>A (p.Val619=) c.1818C>A (p.Val606=) c.1851C>A (p.Val617=) c.1728C>A (p.Val576=) | |
| 19 | g.41978062A>C | CA406045274 | ATP1A3 | c.1856T>G (p.Val619Gly) c.1817T>G (p.Val606Gly) c.1850T>G (p.Val617Gly) c.1727T>G (p.Val576Gly) | |
| 19 | g.41978062A>G | CA406045276 | ATP1A3 | c.1856T>C (p.Val619Ala) c.1817T>C (p.Val606Ala) c.1850T>C (p.Val617Ala) c.1727T>C (p.Val576Ala) | |
| 19 | g.41978062A>T | CA406045278 | ATP1A3 | c.1856T>A (p.Val619Asp) c.1817T>A (p.Val606Asp) c.1850T>A (p.Val617Asp) c.1727T>A (p.Val576Asp) | |
| 19 | g.41978063C>A | CA406045287 | ATP1A3 | c.1855G>T (p.Val619Phe) c.1816G>T (p.Val606Phe) c.1849G>T (p.Val617Phe) c.1726G>T (p.Val576Phe) | |
| 19 | g.41978063C>G | CA406045284 | ATP1A3 | c.1855G>C (p.Val619Leu) c.1816G>C (p.Val606Leu) c.1849G>C (p.Val617Leu) c.1726G>C (p.Val576Leu) | |
| 19 | g.41978063C>T | CA406045286 | ATP1A3 | c.1855G>A (p.Val619Ile) c.1816G>A (p.Val606Ile) c.1849G>A (p.Val617Ile) c.1726G>A (p.Val576Ile) | |
| 19 | g.41978064C>A | CA406045289 | ATP1A3 | c.1854G>T (p.Met618Ile) c.1815G>T (p.Met605Ile) c.1848G>T (p.Met616Ile) c.1725G>T (p.Met575Ile) | |
| 19 | g.41978064C>G | CA406045291 | ATP1A3 | c.1854G>C (p.Met618Ile) c.1815G>C (p.Met605Ile) c.1848G>C (p.Met616Ile) c.1725G>C (p.Met575Ile) | |
| 19 | g.41978064C>T | CA406045293 | ATP1A3 | c.1854G>A (p.Met618Ile) c.1815G>A (p.Met605Ile) c.1848G>A (p.Met616Ile) c.1725G>A (p.Met575Ile) | |
| 19 | g.41978065A>C | CA406045295 | ATP1A3 | c.1853T>G (p.Met618Arg) c.1814T>G (p.Met605Arg) c.1847T>G (p.Met616Arg) c.1724T>G (p.Met575Arg) | |
| 19 | g.41978065A>G | CA406045296 | ATP1A3 | c.1853T>C (p.Met618Thr) c.1814T>C (p.Met605Thr) c.1847T>C (p.Met616Thr) c.1724T>C (p.Met575Thr) | |
| 19 | g.41978065A>T | CA406045298 | ATP1A3 | c.1853T>A (p.Met618Lys) c.1814T>A (p.Met605Lys) c.1847T>A (p.Met616Lys) c.1724T>A (p.Met575Lys) | |
| 19 | g.41978066T>A | CA406045302 | ATP1A3 | c.1852A>T (p.Met618Leu) c.1813A>T (p.Met605Leu) c.1846A>T (p.Met616Leu) c.1723A>T (p.Met575Leu) | |
| 19 | g.41978066T>C | CA406045304 | ATP1A3 | c.1852A>G (p.Met618Val) c.1813A>G (p.Met605Val) c.1846A>G (p.Met616Val) c.1723A>G (p.Met575Val) | |
| 19 | g.41978066T>G | CA406045306 | ATP1A3 | c.1852A>C (p.Met618Leu) c.1813A>C (p.Met605Leu) c.1846A>C (p.Met616Leu) c.1723A>C (p.Met575Leu) | |
| 19 | g.41978067G>A | CA507586842 | ATP1A3 | c.1851C>T (p.Ile617=) c.1812C>T (p.Ile604=) c.1845C>T (p.Ile615=) c.1722C>T (p.Ile574=) | COSMIC |
| 19 | g.41978067G>C | CA406045308 | ATP1A3 | c.1851C>G (p.Ile617Met) c.1812C>G (p.Ile604Met) c.1845C>G (p.Ile615Met) c.1722C>G (p.Ile574Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978067G= | CA2336724855 | ATP1A3 | c.1851C= (p.Ile617=) c.1812C= (p.Ile604=) c.1845C= (p.Ile615=) c.1722C= (p.Ile574=) | |
| 19 | g.41978067G>T | CA507586844 | ATP1A3 | c.1851C>A (p.Ile617=) c.1812C>A (p.Ile604=) c.1845C>A (p.Ile615=) c.1722C>A (p.Ile574=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41978068A>C | CA406045309 | ATP1A3 | c.1850T>G (p.Ile617Ser) c.1811T>G (p.Ile604Ser) c.1844T>G (p.Ile615Ser) c.1721T>G (p.Ile574Ser) |