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.41977944A>C | CA507586304 | ATP1A3 | c.1974T>G (p.Val658=) c.1935T>G (p.Val645=) c.1968T>G (p.Val656=) c.1845T>G (p.Val615=) | |
| 19 | g.41977944A>G | CA507586306 | ATP1A3 | c.1974T>C (p.Val658=) c.1935T>C (p.Val645=) c.1968T>C (p.Val656=) c.1845T>C (p.Val615=) | |
| 19 | g.41977944A>T | CA507586308 | ATP1A3 | c.1974T>A (p.Val658=) c.1935T>A (p.Val645=) c.1968T>A (p.Val656=) c.1845T>A (p.Val615=) | |
| 19 | g.41977945A>C | CA406044813 | ATP1A3 | c.1973T>G (p.Val658Gly) c.1934T>G (p.Val645Gly) c.1967T>G (p.Val656Gly) c.1844T>G (p.Val615Gly) | |
| 19 | g.41977945A>G | CA406044815 | ATP1A3 | c.1973T>C (p.Val658Ala) c.1934T>C (p.Val645Ala) c.1967T>C (p.Val656Ala) c.1844T>C (p.Val615Ala) | COSMIC |
| 19 | g.41977945A>T | CA406044817 | ATP1A3 | c.1973T>A (p.Val658Asp) c.1934T>A (p.Val645Asp) c.1967T>A (p.Val656Asp) c.1844T>A (p.Val615Asp) | |
| 19 | g.41977946C>A | CA406044819 | ATP1A3 | c.1972G>T (p.Val658Phe) c.1933G>T (p.Val645Phe) c.1966G>T (p.Val656Phe) c.1843G>T (p.Val615Phe) | |
| 19 | g.41977946C>G | CA406044821 | ATP1A3 | c.1972G>C (p.Val658Leu) c.1933G>C (p.Val645Leu) c.1966G>C (p.Val656Leu) c.1843G>C (p.Val615Leu) | |
| 19 | g.41977946C>T | CA406044823 | ATP1A3 | c.1972G>A (p.Val658Ile) c.1933G>A (p.Val645Ile) c.1966G>A (p.Val656Ile) c.1843G>A (p.Val615Ile) | |
| 19 | g.41977947C>A | CA406044825 | ATP1A3 | c.1971G>T (p.Gln657His) c.1932G>T (p.Gln644His) c.1965G>T (p.Gln655His) c.1842G>T (p.Gln614His) | |
| 19 | g.41977947C= | CA2336724820 | ATP1A3 | c.1971G= (p.Gln657=) c.1932G= (p.Gln644=) c.1965G= (p.Gln655=) c.1842G= (p.Gln614=) | |
| 19 | g.41977947C>G | CA406044826 | ATP1A3 | c.1971G>C (p.Gln657His) c.1932G>C (p.Gln644His) c.1965G>C (p.Gln655His) c.1842G>C (p.Gln614His) | ClinVar |
| 19 | g.41977947C>T | CA507586320 | ATP1A3 | c.1971G>A (p.Gln657=) c.1932G>A (p.Gln644=) c.1965G>A (p.Gln655=) c.1842G>A (p.Gln614=) | ClinVar dbSNP |
| 19 | g.41977948T>A | CA16616279 | ATP1A3 | c.1970A>T (p.Gln657Leu) c.1931A>T (p.Gln644Leu) c.1964A>T (p.Gln655Leu) c.1841A>T (p.Gln614Leu) | ClinVar dbSNP |
| 19 | g.41977948T>C | CA406044830 | ATP1A3 | c.1970A>G (p.Gln657Arg) c.1931A>G (p.Gln644Arg) c.1964A>G (p.Gln655Arg) c.1841A>G (p.Gln614Arg) | |
| 19 | g.41977948T>G | CA406044829 | ATP1A3 | c.1970A>C (p.Gln657Pro) c.1931A>C (p.Gln644Pro) c.1964A>C (p.Gln655Pro) c.1841A>C (p.Gln614Pro) | |
| 19 | g.41977948T= | CA2336724821 | ATP1A3 | c.1970A= (p.Gln657=) c.1931A= (p.Gln644=) c.1964A= (p.Gln655=) c.1841A= (p.Gln614=) | |
| 19 | g.41977949G>A | CA406044833 | ATP1A3 | c.1969C>T (p.Gln657Ter) c.1930C>T (p.Gln644Ter) c.1963C>T (p.Gln655Ter) c.1840C>T (p.Gln614Ter) | ClinVar dbSNP |
| 19 | g.41977949G>C | CA406044835 | ATP1A3 | c.1969C>G (p.Gln657Glu) c.1930C>G (p.Gln644Glu) c.1963C>G (p.Gln655Glu) c.1840C>G (p.Gln614Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977949G= | CA2336724822 | ATP1A3 | c.1969C= (p.Gln657=) c.1930C= (p.Gln644=) c.1963C= (p.Gln655=) c.1840C= (p.Gln614=) | |
| 19 | g.41977949G>T | CA406044837 | ATP1A3 | c.1969C>A (p.Gln657Lys) c.1930C>A (p.Gln644Lys) c.1963C>A (p.Gln655Lys) c.1840C>A (p.Gln614Lys) | |
| 19 | g.41977950G>A | CA507586329 | ATP1A3 | c.1968C>T (p.Ser656=) c.1929C>T (p.Ser643=) c.1962C>T (p.Ser654=) c.1839C>T (p.Ser613=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977950G>C | CA406044839 | ATP1A3 | c.1968C>G (p.Ser656Arg) c.1929C>G (p.Ser643Arg) c.1962C>G (p.Ser654Arg) c.1839C>G (p.Ser613Arg) | |
| 19 | g.41977950G= | CA2336724823 | ATP1A3 | c.1968C= (p.Ser656=) c.1929C= (p.Ser643=) c.1962C= (p.Ser654=) c.1839C= (p.Ser613=) | |
| 19 | g.41977950G>T | CA406044841 | ATP1A3 | c.1968C>A (p.Ser656Arg) c.1929C>A (p.Ser643Arg) c.1962C>A (p.Ser654Arg) c.1839C>A (p.Ser613Arg) | |
| 19 | g.41977951C>A | CA406044846 | ATP1A3 | c.1967G>T (p.Ser656Ile) c.1928G>T (p.Ser643Ile) c.1961G>T (p.Ser654Ile) c.1838G>T (p.Ser613Ile) | |
| 19 | g.41977951C>G | CA406044845 | ATP1A3 | c.1967G>C (p.Ser656Thr) c.1928G>C (p.Ser643Thr) c.1961G>C (p.Ser654Thr) c.1838G>C (p.Ser613Thr) | ClinVar |
| 19 | g.41977951C>T | CA406044843 | ATP1A3 | c.1967G>A (p.Ser656Asn) c.1928G>A (p.Ser643Asn) c.1961G>A (p.Ser654Asn) c.1838G>A (p.Ser613Asn) | ClinVar dbSNP |
| 19 | g.41977952T>A | CA406044849 | ATP1A3 | c.1966A>T (p.Ser656Cys) c.1927A>T (p.Ser643Cys) c.1960A>T (p.Ser654Cys) c.1837A>T (p.Ser613Cys) | |
| 19 | g.41977952T>C | CA406044850 | ATP1A3 | c.1966A>G (p.Ser656Gly) c.1927A>G (p.Ser643Gly) c.1960A>G (p.Ser654Gly) c.1837A>G (p.Ser613Gly) | |
| 19 | g.41977952T>G | CA406044851 | ATP1A3 | c.1966A>C (p.Ser656Arg) c.1927A>C (p.Ser643Arg) c.1960A>C (p.Ser654Arg) c.1837A>C (p.Ser613Arg) | |
| 19 | g.41977953G>A | CA507586351 | ATP1A3 | c.1965C>T (p.Val655=) c.1926C>T (p.Val642=) c.1959C>T (p.Val653=) c.1836C>T (p.Val612=) | gnomAD v4 |
| 19 | g.41977953G>C | CA507586355 | ATP1A3 | c.1965C>G (p.Val655=) c.1926C>G (p.Val642=) c.1959C>G (p.Val653=) c.1836C>G (p.Val612=) | |
| 19 | g.41977953G>T | CA507586353 | ATP1A3 | c.1965C>A (p.Val655=) c.1926C>A (p.Val642=) c.1959C>A (p.Val653=) c.1836C>A (p.Val612=) | |
| 19 | g.41977954A>C | CA406044854 | ATP1A3 | c.1964T>G (p.Val655Gly) c.1925T>G (p.Val642Gly) c.1958T>G (p.Val653Gly) c.1835T>G (p.Val612Gly) | |
| 19 | g.41977954A>G | CA406044855 | ATP1A3 | c.1964T>C (p.Val655Ala) c.1925T>C (p.Val642Ala) c.1958T>C (p.Val653Ala) c.1835T>C (p.Val612Ala) | |
| 19 | g.41977954A>T | CA406044857 | ATP1A3 | c.1964T>A (p.Val655Asp) c.1925T>A (p.Val642Asp) c.1958T>A (p.Val653Asp) c.1835T>A (p.Val612Asp) | gnomAD v4 |
| 19 | g.41977955C>A | CA406044862 | ATP1A3 | c.1963G>T (p.Val655Phe) c.1924G>T (p.Val642Phe) c.1957G>T (p.Val653Phe) c.1834G>T (p.Val612Phe) | dbSNP |
| 19 | g.41977955C= | CA2336724824 | ATP1A3 | c.1963G= (p.Val655=) c.1924G= (p.Val642=) c.1957G= (p.Val653=) c.1834G= (p.Val612=) | |
| 19 | g.41977955C>G | CA406044860 | ATP1A3 | c.1963G>C (p.Val655Leu) c.1924G>C (p.Val642Leu) c.1957G>C (p.Val653Leu) c.1834G>C (p.Val612Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41977955C>T | CA9467537 | ATP1A3 | c.1963G>A (p.Val655Ile) c.1924G>A (p.Val642Ile) c.1957G>A (p.Val653Ile) c.1834G>A (p.Val612Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977956G>A | CA9467538 | ATP1A3 | c.1962C>T (p.Pro654=) c.1923C>T (p.Pro641=) c.1956C>T (p.Pro652=) c.1833C>T (p.Pro611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977956G>C | CA9467539 | ATP1A3 | c.1962C>G (p.Pro654=) c.1923C>G (p.Pro641=) c.1956C>G (p.Pro652=) c.1833C>G (p.Pro611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41977956G= | CA2336724825 | ATP1A3 | c.1962C= (p.Pro654=) c.1923C= (p.Pro641=) c.1956C= (p.Pro652=) c.1833C= (p.Pro611=) | |
| 19 | g.41977956G>T | CA507586366 | ATP1A3 | c.1962C>A (p.Pro654=) c.1923C>A (p.Pro641=) c.1956C>A (p.Pro652=) c.1833C>A (p.Pro611=) | |
| 19 | g.41977957G>A | CA406044866 | ATP1A3 | c.1961C>T (p.Pro654Leu) c.1922C>T (p.Pro641Leu) c.1955C>T (p.Pro652Leu) c.1832C>T (p.Pro611Leu) | |
| 19 | g.41977957G>C | CA406044867 | ATP1A3 | c.1961C>G (p.Pro654Arg) c.1922C>G (p.Pro641Arg) c.1955C>G (p.Pro652Arg) c.1832C>G (p.Pro611Arg) | |
| 19 | g.41977957G>T | CA406044869 | ATP1A3 | c.1961C>A (p.Pro654His) c.1922C>A (p.Pro641His) c.1955C>A (p.Pro652His) c.1832C>A (p.Pro611His) | |
| 19 | g.41977958G>A | CA406044871 | ATP1A3 | c.1960C>T (p.Pro654Ser) c.1921C>T (p.Pro641Ser) c.1954C>T (p.Pro652Ser) c.1831C>T (p.Pro611Ser) | |
| 19 | g.41977958G>C | CA406044873 | ATP1A3 | c.1960C>G (p.Pro654Ala) c.1921C>G (p.Pro641Ala) c.1954C>G (p.Pro652Ala) c.1831C>G (p.Pro611Ala) |