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.49185916G>A | CA384642531 | TUBA1A | c.450C>T (p.Thr150=) c.345C>T (p.Thr115=) n.1483C>T c.473C>T (p.Pro158Leu) c.602C>T (p.Pro201Leu) | gnomAD v4 |
| 12 | g.49185916G>C | CA384642532 | TUBA1A | c.450C>G (p.Thr150=) c.345C>G (p.Thr115=) n.1483C>G c.473C>G (p.Pro158Arg) c.602C>G (p.Pro201Arg) | |
| 12 | g.49185916G>T | CA384642534 | TUBA1A | c.450C>A (p.Thr150=) c.345C>A (p.Thr115=) n.1483C>A c.473C>A (p.Pro158His) c.602C>A (p.Pro201His) | |
| 12 | g.49185917G>A | CA384642536 | TUBA1A | c.449C>T (p.Thr150Ile) c.344C>T (p.Thr115Ile) n.1482C>T c.472C>T (p.Pro158Ser) c.601C>T (p.Pro201Ser) | ClinVar dbSNP |
| 12 | g.49185917G>C | CA384642538 | TUBA1A | c.449C>G (p.Thr150Ser) c.344C>G (p.Thr115Ser) n.1482C>G c.472C>G (p.Pro158Ala) c.601C>G (p.Pro201Ala) | |
| 12 | g.49185917G= | CA2035023152 | TUBA1A | c.449C= (p.Thr150=) c.344C= (p.Thr115=) n.1482C= c.472C= (p.Pro158=) c.601C= (p.Pro201=) | |
| 12 | g.49185917G>T | CA384642540 | TUBA1A | c.449C>A (p.Thr150Asn) c.344C>A (p.Thr115Asn) n.1482C>A c.472C>A (p.Pro158Thr) c.601C>A (p.Pro201Thr) | |
| 12 | g.49185918T>A | CA384642546 | TUBA1A | c.448A>T (p.Thr150Ser) c.343A>T (p.Thr115Ser) n.1481A>T c.471A>T (p.Ser157=) c.600A>T (p.Ser200=) | |
| 12 | g.49185918T>C | CA384642545 | TUBA1A | c.448A>G (p.Thr150Ala) c.343A>G (p.Thr115Ala) n.1481A>G c.471A>G (p.Ser157=) c.600A>G (p.Ser200=) | |
| 12 | g.49185918T>G | CA384642543 | TUBA1A | c.448A>C (p.Thr150Pro) c.343A>C (p.Thr115Pro) n.1481A>C c.471A>C (p.Ser157=) c.600A>C (p.Ser200=) | |
| 12 | g.49185919G>A | CA384642548 | TUBA1A | c.447C>T (p.Phe149=) c.342C>T (p.Phe114=) n.1480C>T c.470C>T (p.Ser157Leu) c.599C>T (p.Ser200Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185919G>C | CA384642551 | TUBA1A | c.447C>G (p.Phe149Leu) c.342C>G (p.Phe114Leu) n.1480C>G c.470C>G (p.Ser157Ter) c.599C>G (p.Ser200Ter) | |
| 12 | g.49185919G= | CA2035023157 | TUBA1A | c.447C= (p.Phe149=) c.342C= (p.Phe114=) n.1480C= c.470C= (p.Ser157=) c.599C= (p.Ser200=) | |
| 12 | g.49185919G>T | CA384642549 | TUBA1A | c.447C>A (p.Phe149Leu) c.342C>A (p.Phe114Leu) n.1480C>A c.470C>A (p.Ser157Ter) c.599C>A (p.Ser200Ter) | |
| 12 | g.49185920A>C | CA384642553 | TUBA1A | c.446T>G (p.Phe149Cys) c.341T>G (p.Phe114Cys) n.1479T>G c.469T>G (p.Ser157Ala) c.598T>G (p.Ser200Ala) | |
| 12 | g.49185920A>G | CA384642557 | TUBA1A | c.446T>C (p.Phe149Ser) c.341T>C (p.Phe114Ser) n.1479T>C c.469T>C (p.Ser157Pro) c.598T>C (p.Ser200Pro) | |
| 12 | g.49185920A>T | CA384642555 | TUBA1A | c.446T>A (p.Phe149Tyr) c.341T>A (p.Phe114Tyr) n.1479T>A c.469T>A (p.Ser157Thr) c.598T>A (p.Ser200Thr) | |
| 12 | g.49185921A>C | CA384642559 | TUBA1A | c.445T>G (p.Phe149Val) c.340T>G (p.Phe114Val) n.1478T>G c.468T>G (p.Gly156=) c.597T>G (p.Gly199=) | |
| 12 | g.49185921A>G | CA384642561 | TUBA1A | c.445T>C (p.Phe149Leu) c.340T>C (p.Phe114Leu) n.1478T>C c.468T>C (p.Gly156=) c.597T>C (p.Gly199=) | |
| 12 | g.49185921A>T | CA384642562 | TUBA1A | c.445T>A (p.Phe149Ile) c.340T>A (p.Phe114Ile) n.1478T>A c.468T>A (p.Gly156=) c.597T>A (p.Gly199=) | |
| 12 | g.49185922C>A | CA384642565 | TUBA1A | c.444G>T (p.Gly148=) c.339G>T (p.Gly113=) n.1477G>T c.467G>T (p.Gly156Val) c.596G>T (p.Gly199Val) | |
| 12 | g.49185922C= | CA2035023163 | TUBA1A | c.444G= (p.Gly148=) c.339G= (p.Gly113=) n.1477G= c.467G= (p.Gly156=) c.596G= (p.Gly199=) | |
| 12 | g.49185922C>G | CA384642567 | TUBA1A | c.444G>C (p.Gly148=) c.339G>C (p.Gly113=) n.1477G>C c.467G>C (p.Gly156Ala) c.596G>C (p.Gly199Ala) | |
| 12 | g.49185922C>T | CA384642568 | TUBA1A | c.444G>A (p.Gly148=) c.339G>A (p.Gly113=) n.1477G>A c.467G>A (p.Gly156Asp) c.596G>A (p.Gly199Asp) | dbSNP |
| 12 | g.49185923C>A | CA384642571 | TUBA1A | c.443G>T (p.Gly148Val) c.338G>T (p.Gly113Val) n.1476G>T c.466G>T (p.Gly156Cys) c.595G>T (p.Gly199Cys) | |
| 12 | g.49185923C>G | CA384642573 | TUBA1A | c.443G>C (p.Gly148Ala) c.338G>C (p.Gly113Ala) n.1476G>C c.466G>C (p.Gly156Arg) c.595G>C (p.Gly199Arg) | |
| 12 | g.49185923C>T | CA384642576 | TUBA1A | c.443G>A (p.Gly148Glu) c.338G>A (p.Gly113Glu) n.1476G>A c.466G>A (p.Gly156Ser) c.595G>A (p.Gly199Ser) | |
| 12 | g.49185924C>A | CA384642582 | TUBA1A | c.442G>T (p.Gly148Trp) c.337G>T (p.Gly113Trp) n.1475G>T c.465G>T (p.Leu155=) c.594G>T (p.Leu198=) | |
| 12 | g.49185924C>G | CA384642584 | TUBA1A | c.442G>C (p.Gly148Arg) c.337G>C (p.Gly113Arg) n.1475G>C c.465G>C (p.Leu155=) c.594G>C (p.Leu198=) | |
| 12 | g.49185924C>T | CA384642585 | TUBA1A | c.442G>A (p.Gly148Arg) c.337G>A (p.Gly113Arg) n.1475G>A c.465G>A (p.Leu155=) c.594G>A (p.Leu198=) | ClinVar dbSNP |
| 12 | g.49185925A>C | CA384642588 | TUBA1A | c.441T>G (p.Ser147=) c.336T>G (p.Ser112=) n.1474T>G c.464T>G (p.Leu155Arg) c.593T>G (p.Leu198Arg) | |
| 12 | g.49185925A>G | CA384642592 | TUBA1A | c.441T>C (p.Ser147=) c.336T>C (p.Ser112=) n.1474T>C c.464T>C (p.Leu155Pro) c.593T>C (p.Leu198Pro) | gnomAD v4 |
| 12 | g.49185925A>T | CA384642590 | TUBA1A | c.441T>A (p.Ser147=) c.336T>A (p.Ser112=) n.1474T>A c.464T>A (p.Leu155Gln) c.593T>A (p.Leu198Gln) | |
| 12 | g.49185926G>A | CA384642597 | TUBA1A | c.440C>T (p.Ser147Phe) c.335C>T (p.Ser112Phe) n.1473C>T c.463C>T (p.Leu155=) c.592C>T (p.Leu198=) | |
| 12 | g.49185926G>C | CA384642599 | TUBA1A | c.440C>G (p.Ser147Cys) c.335C>G (p.Ser112Cys) n.1473C>G c.463C>G (p.Leu155Val) c.592C>G (p.Leu198Val) | |
| 12 | g.49185926G>T | CA384642601 | TUBA1A | c.440C>A (p.Ser147Tyr) c.335C>A (p.Ser112Tyr) n.1473C>A c.463C>A (p.Leu155Met) c.592C>A (p.Leu198Met) | |
| 12 | g.49185927A>C | CA384642608 | TUBA1A | c.439T>G (p.Ser147Ala) c.334T>G (p.Ser112Ala) n.1472T>G c.462T>G (p.Val154=) c.591T>G (p.Val197=) | |
| 12 | g.49185927A>G | CA384642610 | TUBA1A | c.439T>C (p.Ser147Pro) c.334T>C (p.Ser112Pro) n.1472T>C c.462T>C (p.Val154=) c.591T>C (p.Val197=) | |
| 12 | g.49185927A>T | CA384642611 | TUBA1A | c.439T>A (p.Ser147Thr) c.334T>A (p.Ser112Thr) n.1472T>A c.462T>A (p.Val154=) c.591T>A (p.Val197=) | |
| 12 | g.49185928A= | CA2035023165 | TUBA1A | c.438T= (p.Gly146=) c.333T= (p.Gly111=) n.1471T= c.461T= (p.Val154=) c.590T= (p.Val197=) | |
| 12 | g.49185928A>C | CA6550248 | TUBA1A | c.438T>G (p.Gly146=) c.333T>G (p.Gly111=) n.1471T>G c.461T>G (p.Val154Gly) c.590T>G (p.Val197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185928A>G | CA384642614 | TUBA1A | c.438T>C (p.Gly146=) c.333T>C (p.Gly111=) n.1471T>C c.461T>C (p.Val154Ala) c.590T>C (p.Val197Ala) | |
| 12 | g.49185928A>T | CA384642616 | TUBA1A | c.438T>A (p.Gly146=) c.333T>A (p.Gly111=) n.1471T>A c.461T>A (p.Val154Asp) c.590T>A (p.Val197Asp) | |
| 12 | g.49185929C>A | CA384642621 | TUBA1A | c.437G>T (p.Gly146Val) c.332G>T (p.Gly111Val) n.1470G>T c.460G>T (p.Val154Phe) c.589G>T (p.Val197Phe) | |
| 12 | g.49185929C>G | CA384642620 | TUBA1A | c.437G>C (p.Gly146Ala) c.332G>C (p.Gly111Ala) n.1470G>C c.460G>C (p.Val154Leu) c.589G>C (p.Val197Leu) | |
| 12 | g.49185929C>T | CA384642618 | TUBA1A | c.437G>A (p.Gly146Asp) c.332G>A (p.Gly111Asp) n.1470G>A c.460G>A (p.Val154Ile) c.589G>A (p.Val197Ile) | |
| 12 | g.49185930C>A | CA384642622 | TUBA1A | c.436G>T (p.Gly146Cys) c.331G>T (p.Gly111Cys) n.1469G>T c.459G>T (p.Leu153=) c.588G>T (p.Leu196=) | |
| 12 | g.49185930C>G | CA384642623 | TUBA1A | c.436G>C (p.Gly146Arg) c.331G>C (p.Gly111Arg) n.1469G>C c.459G>C (p.Leu153=) c.588G>C (p.Leu196=) | |
| 12 | g.49185930C>T | CA384642626 | TUBA1A | c.436G>A (p.Gly146Ser) c.331G>A (p.Gly111Ser) n.1469G>A c.459G>A (p.Leu153=) c.588G>A (p.Leu196=) | gnomAD v4 COSMIC |
| 12 | g.49185931A= | CA2035023170 | TUBA1A | c.435T= (p.Thr145=) c.330T= (p.Thr110=) n.1468T= c.458T= (p.Leu153=) c.587T= (p.Leu196=) |