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 |
|---|---|---|---|---|---|
| 20 | g.57565580A>C | CA409437628 | PCK1 | c.1645A>C (p.Ser549Arg) n.4287A>C c.1249A>C (p.Ser417Arg) | |
| 20 | g.57565580A>G | CA409437629 | PCK1 | c.1645A>G (p.Ser549Gly) n.4287A>G c.1249A>G (p.Ser417Gly) | gnomAD v4 |
| 20 | g.57565580A>T | CA409437630 | PCK1 | c.1645A>T (p.Ser549Cys) n.4287A>T c.1249A>T (p.Ser417Cys) | |
| 20 | g.57565581G>A | CA409437631 | PCK1 | c.1646G>A (p.Ser549Asn) n.4288G>A c.1250G>A (p.Ser417Asn) | dbSNP |
| 20 | g.57565581G>C | CA409437632 | PCK1 | c.1646G>C (p.Ser549Thr) n.4288G>C c.1250G>C (p.Ser417Thr) | |
| 20 | g.57565581G>T | CA409437633 | PCK1 | c.1646G>T (p.Ser549Ile) n.4288G>T c.1250G>T (p.Ser417Ile) | |
| 20 | g.57565582C>A | CA409437634 | PCK1 | c.1647C>A (p.Ser549Arg) n.4289C>A c.1251C>A (p.Ser417Arg) | dbSNP |
| 20 | g.57565582C>G | CA409437635 | PCK1 | c.1647C>G (p.Ser549Arg) n.4289C>G c.1251C>G (p.Ser417Arg) | |
| 20 | g.57565582C>T | CA511311065 | PCK1 | c.1647C>T (p.Ser549=) n.4289C>T c.1251C>T (p.Ser417=) | |
| 20 | g.57565583A= | CA2371897640 | PCK1 | c.1648A= (p.Thr550=) n.4290A= c.1252A= (p.Thr418=) | |
| 20 | g.57565583A>C | CA409437636 | PCK1 | c.1648A>C (p.Thr550Pro) n.4290A>C c.1252A>C (p.Thr418Pro) | |
| 20 | g.57565583A>G | CA316282372 | PCK1 | c.1648A>G (p.Thr550Ala) n.4290A>G c.1252A>G (p.Thr418Ala) | dbSNP gnomAD v4 |
| 20 | g.57565583A>T | CA409437637 | PCK1 | c.1648A>T (p.Thr550Ser) n.4290A>T c.1252A>T (p.Thr418Ser) | |
| 20 | g.57565584C>A | CA409437638 | PCK1 | c.1649C>A (p.Thr550Asn) n.4291C>A c.1253C>A (p.Thr418Asn) | |
| 20 | g.57565584C= | CA2371897641 | PCK1 | c.1649C= (p.Thr550=) n.4291C= c.1253C= (p.Thr418=) | |
| 20 | g.57565584C>G | CA409437639 | PCK1 | c.1649C>G (p.Thr550Ser) n.4291C>G c.1253C>G (p.Thr418Ser) | |
| 20 | g.57565584C>T | CA9922440 | PCK1 | c.1649C>T (p.Thr550Ile) n.4291C>T c.1253C>T (p.Thr418Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.57565585C>A | CA511311066 | PCK1 | c.1650C>A (p.Thr550=) n.4292C>A c.1254C>A (p.Thr418=) | dbSNP |
| 20 | g.57565585C>G | CA511311067 | PCK1 | c.1650C>G (p.Thr550=) n.4292C>G c.1254C>G (p.Thr418=) | |
| 20 | g.57565585C>T | CA511311068 | PCK1 | c.1650C>T (p.Thr550=) n.4292C>T c.1254C>T (p.Thr418=) | |
| 20 | g.57565586A>C | CA409437640 | PCK1 | c.1651A>C (p.Lys551Gln) n.4293A>C c.1255A>C (p.Lys419Gln) | |
| 20 | g.57565586A>G | CA409437641 | PCK1 | c.1651A>G (p.Lys551Glu) n.4293A>G c.1255A>G (p.Lys419Glu) | |
| 20 | g.57565586A>T | CA409437642 | PCK1 | c.1651A>T (p.Lys551Ter) n.4293A>T c.1255A>T (p.Lys419Ter) | |
| 20 | g.57565587A>C | CA409437643 | PCK1 | c.1652A>C (p.Lys551Thr) n.4294A>C c.1256A>C (p.Lys419Thr) | |
| 20 | g.57565587A>G | CA409437644 | PCK1 | c.1652A>G (p.Lys551Arg) n.4294A>G c.1256A>G (p.Lys419Arg) | |
| 20 | g.57565587A>T | CA409437645 | PCK1 | c.1652A>T (p.Lys551Met) n.4294A>T c.1256A>T (p.Lys419Met) | |
| 20 | g.57565588G>A | CA511311069 | PCK1 | c.1653G>A (p.Lys551=) n.4295G>A c.1257G>A (p.Lys419=) | |
| 20 | g.57565588G>C | CA409437647 | PCK1 | c.1653G>C (p.Lys551Asn) n.4295G>C c.1257G>C (p.Lys419Asn) | |
| 20 | g.57565588G>T | CA409437646 | PCK1 | c.1653G>T (p.Lys551Asn) n.4295G>T c.1257G>T (p.Lys419Asn) | |
| 20 | g.57565589C>A | CA409437648 | PCK1 | c.1654C>A (p.Leu552Ile) n.4296C>A c.1258C>A (p.Leu420Ile) | dbSNP |
| 20 | g.57565589C>G | CA409437649 | PCK1 | c.1654C>G (p.Leu552Val) n.4296C>G c.1258C>G (p.Leu420Val) | |
| 20 | g.57565589C>T | CA409437650 | PCK1 | c.1654C>T (p.Leu552Phe) n.4296C>T c.1258C>T (p.Leu420Phe) | |
| 20 | g.57565590T>A | CA409437651 | PCK1 | c.1655T>A (p.Leu552His) n.4297T>A c.1259T>A (p.Leu420His) | dbSNP |
| 20 | g.57565590T>C | CA409437652 | PCK1 | c.1655T>C (p.Leu552Pro) n.4297T>C c.1259T>C (p.Leu420Pro) | |
| 20 | g.57565590T>G | CA409437653 | PCK1 | c.1655T>G (p.Leu552Arg) n.4297T>G c.1259T>G (p.Leu420Arg) | |
| 20 | g.57565591C>A | CA511311070 | PCK1 | c.1656C>A (p.Leu552=) n.4298C>A c.1260C>A (p.Leu420=) | |
| 20 | g.57565591C>G | CA511311071 | PCK1 | c.1656C>G (p.Leu552=) n.4298C>G c.1260C>G (p.Leu420=) | COSMIC |
| 20 | g.57565591C>T | CA511311072 | PCK1 | c.1656C>T (p.Leu552=) n.4298C>T c.1260C>T (p.Leu420=) | COSMIC |
| 20 | g.57565592A>C | CA409437654 | PCK1 | c.1657A>C (p.Thr553Pro) n.4299A>C c.1261A>C (p.Thr421Pro) | gnomAD v4 |
| 20 | g.57565592A>G | CA409437655 | PCK1 | c.1657A>G (p.Thr553Ala) n.4299A>G c.1261A>G (p.Thr421Ala) | |
| 20 | g.57565592A>T | CA409437656 | PCK1 | c.1657A>T (p.Thr553Ser) n.4299A>T c.1261A>T (p.Thr421Ser) | gnomAD v4 |
| 20 | g.57565593C>A | CA409437657 | PCK1 | c.1658C>A (p.Thr553Lys) n.4300C>A c.1262C>A (p.Thr421Lys) | dbSNP |
| 20 | g.57565593C= | CA2371897642 | PCK1 | c.1658C= (p.Thr553=) n.4300C= c.1262C= (p.Thr421=) | |
| 20 | g.57565593C>G | CA409437658 | PCK1 | c.1658C>G (p.Thr553Arg) n.4300C>G c.1262C>G (p.Thr421Arg) | |
| 20 | g.57565593C>T | CA9922441 | PCK1 | c.1658C>T (p.Thr553Met) n.4300C>T c.1262C>T (p.Thr421Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.57565594G>A | CA9922442 | PCK1 | c.1659G>A (p.Thr553=) n.4301G>A c.1263G>A (p.Thr421=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.57565594G>C | CA511311074 | PCK1 | c.1659G>C (p.Thr553=) n.4301G>C c.1263G>C (p.Thr421=) | |
| 20 | g.57565594G= | CA2371897643 | PCK1 | c.1659G= (p.Thr553=) n.4301G= c.1263G= (p.Thr421=) | |
| 20 | g.57565594G>T | CA511311073 | PCK1 | c.1659G>T (p.Thr553=) n.4301G>T c.1263G>T (p.Thr421=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.57565595C>A | CA409437661 | PCK1 | c.1660C>A (p.Pro554Thr) n.4302C>A c.1264C>A (p.Pro422Thr) |