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.197142345A= | CA1217946555 | ASPM | c.1907T= (p.Leu636=) n.2124T= c.561+1346T= (n.561+1346T=) | |
| 1 | g.197142345A>C | CA344012871 | ASPM | c.1907T>G (p.Leu636Arg) n.2124T>G c.561+1346T>G (n.561+1346T>G) | |
| 1 | g.197142345A>G | CA35860852 | ASPM | c.1907T>C (p.Leu636Pro) n.2124T>C c.561+1346T>C (n.561+1346T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197142345A>T | CA344012874 | ASPM | c.1907T>A (p.Leu636Gln) n.2124T>A c.561+1346T>A (n.561+1346T>A) | |
| 1 | g.197142346G>A | CA35860858 | ASPM | c.1906C>T (p.Leu636=) n.2123C>T c.561+1345C>T (n.561+1345C>T) | dbSNP gnomAD v4 |
| 1 | g.197142346G>C | CA344012876 | ASPM | c.1906C>G (p.Leu636Val) n.2123C>G c.561+1345C>G (n.561+1345C>G) | gnomAD v4 |
| 1 | g.197142346G= | CA1217946556 | ASPM | c.1906C= (p.Leu636=) n.2123C= c.561+1345C= (n.561+1345C=) | |
| 1 | g.197142346G>T | CA344012878 | ASPM | c.1906C>A (p.Leu636Met) n.2123C>A c.561+1345C>A (n.561+1345C>A) | gnomAD v4 |
| 1 | g.197142347G>A | CA422677103 | ASPM | c.1905C>T (p.Asn635=) n.2122C>T c.561+1344C>T (n.561+1344C>T) | |
| 1 | g.197142347G>C | CA344012882 | ASPM | c.1905C>G (p.Asn635Lys) n.2122C>G c.561+1344C>G (n.561+1344C>G) | |
| 1 | g.197142347G>T | CA344012883 | ASPM | c.1905C>A (p.Asn635Lys) n.2122C>A c.561+1344C>A (n.561+1344C>A) | |
| 1 | g.197142348T>A | CA344012885 | ASPM | c.1904A>T (p.Asn635Ile) n.2121A>T c.561+1343A>T (n.561+1343A>T) | |
| 1 | g.197142348T>C | CA344012888 | ASPM | c.1904A>G (p.Asn635Ser) n.2121A>G c.561+1343A>G (n.561+1343A>G) | |
| 1 | g.197142348T>G | CA344012889 | ASPM | c.1904A>C (p.Asn635Thr) n.2121A>C c.561+1343A>C (n.561+1343A>C) | |
| 1 | g.197142349T>A | CA344012892 | ASPM | c.1903A>T (p.Asn635Tyr) n.2120A>T c.561+1342A>T (n.561+1342A>T) | |
| 1 | g.197142349T>C | CA344012895 | ASPM | c.1903A>G (p.Asn635Asp) n.2120A>G c.561+1342A>G (n.561+1342A>G) | |
| 1 | g.197142349T>G | CA344012896 | ASPM | c.1903A>C (p.Asn635His) n.2120A>C c.561+1342A>C (n.561+1342A>C) | |
| 1 | g.197142350T>A | CA344012897 | ASPM | c.1902A>T (p.Leu634Phe) n.2119A>T c.561+1341A>T (n.561+1341A>T) | |
| 1 | g.197142350T>C | CA422677104 | ASPM | c.1902A>G (p.Leu634=) n.2119A>G c.561+1341A>G (n.561+1341A>G) | |
| 1 | g.197142350T>G | CA344012898 | ASPM | c.1902A>C (p.Leu634Phe) n.2119A>C c.561+1341A>C (n.561+1341A>C) | |
| 1 | g.197142351_197142353del | CA2649664199 | ASPM | c.1900_1902del (p.Leu634del) n.2117_2119del c.561+1339_561+1341del (n.561+1339_561+1341del) | gnomAD v4 |
| 1 | g.197142351A>C | CA344012899 | ASPM | c.1901T>G (p.Leu634Ter) n.2118T>G c.561+1340T>G (n.561+1340T>G) | |
| 1 | g.197142351A>G | CA344012900 | ASPM | c.1901T>C (p.Leu634Ser) n.2118T>C c.561+1340T>C (n.561+1340T>C) | gnomAD v4 |
| 1 | g.197142351A>T | CA344012901 | ASPM | c.1901T>A (p.Leu634Ter) n.2118T>A c.561+1340T>A (n.561+1340T>A) | gnomAD v4 |
| 1 | g.197142352A>C | CA344012902 | ASPM | c.1900T>G (p.Leu634Val) n.2117T>G c.561+1339T>G (n.561+1339T>G) | gnomAD v4 |
| 1 | g.197142352A>G | CA422677105 | ASPM | c.1900T>C (p.Leu634=) n.2117T>C c.561+1339T>C (n.561+1339T>C) | gnomAD v4 |
| 1 | g.197142352A>T | CA344012903 | ASPM | c.1900T>A (p.Leu634Ile) n.2117T>A c.561+1339T>A (n.561+1339T>A) | |
| 1 | g.197142353T>A | CA344012906 | ASPM | c.1899A>T (p.Lys633Asn) n.2116A>T c.561+1338A>T (n.561+1338A>T) | |
| 1 | g.197142353T>C | CA422677106 | ASPM | c.1899A>G (p.Lys633=) n.2116A>G c.561+1338A>G (n.561+1338A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142353T>G | CA344012905 | ASPM | c.1899A>C (p.Lys633Asn) n.2116A>C c.561+1338A>C (n.561+1338A>C) | |
| 1 | g.197142353T= | CA1217946558 | ASPM | c.1899A= (p.Lys633=) n.2116A= c.561+1338A= (n.561+1338A=) | |
| 1 | g.197142354T>A | CA344012908 | ASPM | c.1898A>T (p.Lys633Ile) n.2115A>T c.561+1337A>T (n.561+1337A>T) | |
| 1 | g.197142354T>C | CA344012909 | ASPM | c.1898A>G (p.Lys633Arg) n.2115A>G c.561+1337A>G (n.561+1337A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197142354T>G | CA344012910 | ASPM | c.1898A>C (p.Lys633Thr) n.2115A>C c.561+1337A>C (n.561+1337A>C) | |
| 1 | g.197142354T= | CA1217946562 | ASPM | c.1898A= (p.Lys633=) n.2115A= c.561+1337A= (n.561+1337A=) | |
| 1 | g.197142354_197142356delinsTTC | CA1217946561 | ASPM | c.1896_1898delinsGAA (p.Glu632=) n.2113_2115delinsGAA c.561+1335_561+1337delinsGAA (n.561+1335_561+1337delinsGAA) | |
| 1 | g.197142355T>A | CA344012912 | ASPM | c.1897A>T (p.Lys633Ter) n.2114A>T c.561+1336A>T (n.561+1336A>T) | |
| 1 | g.197142355T>C | CA344012914 | ASPM | c.1897A>G (p.Lys633Glu) n.2114A>G c.561+1336A>G (n.561+1336A>G) | |
| 1 | g.197142355T>G | CA344012917 | ASPM | c.1897A>C (p.Lys633Gln) n.2114A>C c.561+1336A>C (n.561+1336A>C) | |
| 1 | g.197142360_197142361del | CA528535317 | ASPM | c.1896_1897del (p.Lys633IlefsTer8) n.2113_2114del c.561+1335_561+1336del (n.561+1335_561+1336del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142358_197142361del | CA2606711072 | ASPM | c.1894_1897del (p.Glu632AsnfsTer2) n.2111_2114del c.561+1333_561+1336del (n.561+1333_561+1336del) | gnomAD v3 gnomAD v4 |
| 1 | g.197142356C>A | CA344012918 | ASPM | c.1896G>T (p.Glu632Asp) n.2113G>T c.561+1335G>T (n.561+1335G>T) | gnomAD v4 COSMIC |
| 1 | g.197142356C>G | CA344012920 | ASPM | c.1896G>C (p.Glu632Asp) n.2113G>C c.561+1335G>C (n.561+1335G>C) | gnomAD v4 |
| 1 | g.197142356C>T | CA422677107 | ASPM | c.1896G>A (p.Glu632=) n.2113G>A c.561+1335G>A (n.561+1335G>A) | |
| 1 | g.197142357T>A | CA344012924 | ASPM | c.1895A>T (p.Glu632Val) n.2112A>T c.561+1334A>T (n.561+1334A>T) | |
| 1 | g.197142357T>C | CA344012925 | ASPM | c.1895A>G (p.Glu632Gly) n.2112A>G c.561+1334A>G (n.561+1334A>G) | |
| 1 | g.197142357T>G | CA344012927 | ASPM | c.1895A>C (p.Glu632Ala) n.2112A>C c.561+1334A>C (n.561+1334A>C) | |
| 1 | g.197142358C>A | CA344012930 | ASPM | c.1894G>T (p.Glu632Ter) n.2111G>T c.561+1333G>T (n.561+1333G>T) | |
| 1 | g.197142358C>G | CA344012932 | ASPM | c.1894G>C (p.Glu632Gln) n.2111G>C c.561+1333G>C (n.561+1333G>C) | |
| 1 | g.197142358C>T | CA344012934 | ASPM | c.1894G>A (p.Glu632Lys) n.2111G>A c.561+1333G>A (n.561+1333G>A) |