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 |
|---|---|---|---|---|---|
| 12 | g.101764818A= | CA2058955560 | GNPTAB | c.2099T= (p.Ile700=) c.2018T= (p.Ile673=) c.1883T= (p.Ile628=) c.872T= (p.Ile291=) | |
| 12 | g.101764818A>C | CA386298995 | GNPTAB | c.2099T>G (p.Ile700Ser) c.2018T>G (p.Ile673Ser) c.1883T>G (p.Ile628Ser) c.872T>G (p.Ile291Ser) | |
| 12 | g.101764818A>G | CA6746476 | GNPTAB | c.2099T>C (p.Ile700Thr) c.2018T>C (p.Ile673Thr) c.1883T>C (p.Ile628Thr) c.872T>C (p.Ile291Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764818A>T | CA386298996 | GNPTAB | c.2099T>A (p.Ile700Asn) c.2018T>A (p.Ile673Asn) c.1883T>A (p.Ile628Asn) c.872T>A (p.Ile291Asn) | |
| 12 | g.101764819T>A | CA386298997 | GNPTAB | c.2098A>T (p.Ile700Phe) c.2017A>T (p.Ile673Phe) c.1882A>T (p.Ile628Phe) c.871A>T (p.Ile291Phe) | |
| 12 | g.101764819T>C | CA386298998 | GNPTAB | c.2098A>G (p.Ile700Val) c.2017A>G (p.Ile673Val) c.1882A>G (p.Ile628Val) c.871A>G (p.Ile291Val) | gnomAD v4 |
| 12 | g.101764819T>G | CA386298999 | GNPTAB | c.2098A>C (p.Ile700Leu) c.2017A>C (p.Ile673Leu) c.1882A>C (p.Ile628Leu) c.871A>C (p.Ile291Leu) | |
| 12 | g.101764819dup | CA2573147950 | GNPTAB | c.2098dup (p.Ile700AsnfsTer?) c.2017dup (p.Ile673AsnfsTer?) c.1882dup (p.Ile628AsnfsTer?) c.871dup (p.Ile291AsnfsTer?) | ClinVar dbSNP |
| 12 | g.101764820A= | CA2058955561 | GNPTAB | c.2097T= (p.Asn699=) c.2016T= (p.Asn672=) c.1881T= (p.Asn627=) c.870T= (p.Asn290=) | |
| 12 | g.101764820A>C | CA386299000 | GNPTAB | c.2097T>G (p.Asn699Lys) c.2016T>G (p.Asn672Lys) c.1881T>G (p.Asn627Lys) c.870T>G (p.Asn290Lys) | |
| 12 | g.101764820A>G | CA481577222 | GNPTAB | c.2097T>C (p.Asn699=) c.2016T>C (p.Asn672=) c.1881T>C (p.Asn627=) c.870T>C (p.Asn290=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101764820A>T | CA386299001 | GNPTAB | c.2097T>A (p.Asn699Lys) c.2016T>A (p.Asn672Lys) c.1881T>A (p.Asn627Lys) c.870T>A (p.Asn290Lys) | |
| 12 | g.101764821T>A | CA386299004 | GNPTAB | c.2096A>T (p.Asn699Ile) c.2015A>T (p.Asn672Ile) c.1880A>T (p.Asn627Ile) c.869A>T (p.Asn290Ile) | |
| 12 | g.101764821T>C | CA386299003 | GNPTAB | c.2096A>G (p.Asn699Ser) c.2015A>G (p.Asn672Ser) c.1880A>G (p.Asn627Ser) c.869A>G (p.Asn290Ser) | gnomAD v4 |
| 12 | g.101764821T>G | CA386299002 | GNPTAB | c.2096A>C (p.Asn699Thr) c.2015A>C (p.Asn672Thr) c.1880A>C (p.Asn627Thr) c.869A>C (p.Asn290Thr) | |
| 12 | g.101764822T>A | CA386299005 | GNPTAB | c.2095A>T (p.Asn699Tyr) c.2014A>T (p.Asn672Tyr) c.1879A>T (p.Asn627Tyr) c.868A>T (p.Asn290Tyr) | |
| 12 | g.101764822T>C | CA386299006 | GNPTAB | c.2095A>G (p.Asn699Asp) c.2014A>G (p.Asn672Asp) c.1879A>G (p.Asn627Asp) c.868A>G (p.Asn290Asp) | |
| 12 | g.101764822T>G | CA386299007 | GNPTAB | c.2095A>C (p.Asn699His) c.2014A>C (p.Asn672His) c.1879A>C (p.Asn627His) c.868A>C (p.Asn290His) | |
| 12 | g.101764823T>A | CA481577223 | GNPTAB | c.2094A>T (p.Val698=) c.2013A>T (p.Val671=) c.1878A>T (p.Val626=) c.867A>T (p.Val289=) | |
| 12 | g.101764823T>C | CA6746477 | GNPTAB | c.2094A>G (p.Val698=) c.2013A>G (p.Val671=) c.1878A>G (p.Val626=) c.867A>G (p.Val289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764823T>G | CA481577224 | GNPTAB | c.2094A>C (p.Val698=) c.2013A>C (p.Val671=) c.1878A>C (p.Val626=) c.867A>C (p.Val289=) | |
| 12 | g.101764823T= | CA2058955562 | GNPTAB | c.2094A= (p.Val698=) c.2013A= (p.Val671=) c.1878A= (p.Val626=) c.867A= (p.Val289=) | |
| 12 | g.101764824A>C | CA386299008 | GNPTAB | c.2093T>G (p.Val698Gly) c.2012T>G (p.Val671Gly) c.1877T>G (p.Val626Gly) c.866T>G (p.Val289Gly) | |
| 12 | g.101764824A>G | CA386299009 | GNPTAB | c.2093T>C (p.Val698Ala) c.2012T>C (p.Val671Ala) c.1877T>C (p.Val626Ala) c.866T>C (p.Val289Ala) | COSMIC |
| 12 | g.101764824A>T | CA386299010 | GNPTAB | c.2093T>A (p.Val698Glu) c.2012T>A (p.Val671Glu) c.1877T>A (p.Val626Glu) c.866T>A (p.Val289Glu) | |
| 12 | g.101764825C>A | CA386299011 | GNPTAB | c.2092G>T (p.Val698Leu) c.2011G>T (p.Val671Leu) c.1876G>T (p.Val626Leu) c.865G>T (p.Val289Leu) | |
| 12 | g.101764825C>G | CA386299012 | GNPTAB | c.2092G>C (p.Val698Leu) c.2011G>C (p.Val671Leu) c.1876G>C (p.Val626Leu) c.865G>C (p.Val289Leu) | |
| 12 | g.101764825C>T | CA386299013 | GNPTAB | c.2092G>A (p.Val698Ile) c.2011G>A (p.Val671Ile) c.1876G>A (p.Val626Ile) c.865G>A (p.Val289Ile) | |
| 12 | g.101764826C>A | CA481577225 | GNPTAB | c.2091G>T (p.Leu697=) c.2010G>T (p.Leu670=) c.1875G>T (p.Leu625=) c.864G>T (p.Leu288=) | |
| 12 | g.101764826C>G | CA481577226 | GNPTAB | c.2091G>C (p.Leu697=) c.2010G>C (p.Leu670=) c.1875G>C (p.Leu625=) c.864G>C (p.Leu288=) | |
| 12 | g.101764826C>T | CA481577227 | GNPTAB | c.2091G>A (p.Leu697=) c.2010G>A (p.Leu670=) c.1875G>A (p.Leu625=) c.864G>A (p.Leu288=) | |
| 12 | g.101764827A= | CA2058955563 | GNPTAB | c.2090T= (p.Leu697=) c.2009T= (p.Leu670=) c.1874T= (p.Leu625=) c.863T= (p.Leu288=) | |
| 12 | g.101764827A>C | CA386299014 | GNPTAB | c.2090T>G (p.Leu697Arg) c.2009T>G (p.Leu670Arg) c.1874T>G (p.Leu625Arg) c.863T>G (p.Leu288Arg) | dbSNP |
| 12 | g.101764827A>G | CA386299015 | GNPTAB | c.2090T>C (p.Leu697Pro) c.2009T>C (p.Leu670Pro) c.1874T>C (p.Leu625Pro) c.863T>C (p.Leu288Pro) | |
| 12 | g.101764827A>T | CA386299016 | GNPTAB | c.2090T>A (p.Leu697Gln) c.2009T>A (p.Leu670Gln) c.1874T>A (p.Leu625Gln) c.863T>A (p.Leu288Gln) | gnomAD v4 |
| 12 | g.101764828G>A | CA481577228 | GNPTAB | c.2089C>T (p.Leu697=) c.2008C>T (p.Leu670=) c.1873C>T (p.Leu625=) c.862C>T (p.Leu288=) | |
| 12 | g.101764828G>C | CA386299018 | GNPTAB | c.2089C>G (p.Leu697Val) c.2008C>G (p.Leu670Val) c.1873C>G (p.Leu625Val) c.862C>G (p.Leu288Val) | |
| 12 | g.101764828G= | CA2058955564 | GNPTAB | c.2089C= (p.Leu697=) c.2008C= (p.Leu670=) c.1873C= (p.Leu625=) c.862C= (p.Leu288=) | |
| 12 | g.101764828G>T | CA386299017 | GNPTAB | c.2089C>A (p.Leu697Met) c.2008C>A (p.Leu670Met) c.1873C>A (p.Leu625Met) c.862C>A (p.Leu288Met) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764831dup | CA343365 | GNPTAB | c.2089dup (p.Leu697ProfsTer?) c.2008dup (p.Leu670ProfsTer?) c.1873dup (p.Leu625ProfsTer?) c.862dup (p.Leu288ProfsTer?) | ClinVar dbSNP |
| 12 | g.101764831del | CA2620446503 | GNPTAB | c.2089del (p.Leu697TrpfsTer2) c.2008del (p.Leu670TrpfsTer2) c.1873del (p.Leu625TrpfsTer2) c.862del (p.Leu288TrpfsTer2) | gnomAD v4 |
| 12 | g.101764829G>A | CA481577230 | GNPTAB | c.2088C>T (p.Pro696=) c.2007C>T (p.Pro669=) c.1872C>T (p.Pro624=) c.861C>T (p.Pro287=) | ClinVar |
| 12 | g.101764829G>C | CA481577231 | GNPTAB | c.2088C>G (p.Pro696=) c.2007C>G (p.Pro669=) c.1872C>G (p.Pro624=) c.861C>G (p.Pro287=) | |
| 12 | g.101764829G>T | CA481577229 | GNPTAB | c.2088C>A (p.Pro696=) c.2007C>A (p.Pro669=) c.1872C>A (p.Pro624=) c.861C>A (p.Pro287=) | gnomAD v4 |
| 12 | g.101764830G>A | CA386299021 | GNPTAB | c.2087C>T (p.Pro696Leu) c.2006C>T (p.Pro669Leu) c.1871C>T (p.Pro624Leu) c.860C>T (p.Pro287Leu) | ClinVar dbSNP |
| 12 | g.101764830G>C | CA386299019 | GNPTAB | c.2087C>G (p.Pro696Arg) c.2006C>G (p.Pro669Arg) c.1871C>G (p.Pro624Arg) c.860C>G (p.Pro287Arg) | dbSNP gnomAD v4 |
| 12 | g.101764830G= | CA2058955565 | GNPTAB | c.2087C= (p.Pro696=) c.2006C= (p.Pro669=) c.1871C= (p.Pro624=) c.860C= (p.Pro287=) | |
| 12 | g.101764830G>T | CA386299020 | GNPTAB | c.2087C>A (p.Pro696His) c.2006C>A (p.Pro669His) c.1871C>A (p.Pro624His) c.860C>A (p.Pro287His) | |
| 12 | g.101764831G>A | CA386299022 | GNPTAB | c.2086C>T (p.Pro696Ser) c.2005C>T (p.Pro669Ser) c.1870C>T (p.Pro624Ser) c.859C>T (p.Pro287Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101764831G>C | CA386299023 | GNPTAB | c.2086C>G (p.Pro696Ala) c.2005C>G (p.Pro669Ala) c.1870C>G (p.Pro624Ala) c.859C>G (p.Pro287Ala) |