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.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=) | |
| 12 | g.49185931A>C | CA384642628 | TUBA1A | c.435T>G (p.Thr145=) c.330T>G (p.Thr110=) n.1468T>G c.458T>G (p.Leu153Arg) c.587T>G (p.Leu196Arg) | |
| 12 | g.49185931A>G | CA384642631 | TUBA1A | c.435T>C (p.Thr145=) c.330T>C (p.Thr110=) n.1468T>C c.458T>C (p.Leu153Pro) c.587T>C (p.Leu196Pro) | gnomAD v4 |
| 12 | g.49185931A>T | CA384642633 | TUBA1A | c.435T>A (p.Thr145=) c.330T>A (p.Thr110=) n.1468T>A c.458T>A (p.Leu153Gln) c.587T>A (p.Leu196Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185932G>A | CA384642634 | TUBA1A | c.434C>T (p.Thr145Ile) c.329C>T (p.Thr110Ile) n.1467C>T c.457C>T (p.Leu153=) c.586C>T (p.Leu196=) | |
| 12 | g.49185932G>C | CA384642635 | TUBA1A | c.434C>G (p.Thr145Ser) c.329C>G (p.Thr110Ser) n.1467C>G c.457C>G (p.Leu153Val) c.586C>G (p.Leu196Val) | |
| 12 | g.49185932G>T | CA384642636 | TUBA1A | c.434C>A (p.Thr145Asn) c.329C>A (p.Thr110Asn) n.1467C>A c.457C>A (p.Leu153Met) c.586C>A (p.Leu196Met) | |
| 12 | g.49185933T>A | CA384642637 | TUBA1A | c.433A>T (p.Thr145Ser) c.328A>T (p.Thr110Ser) n.1466A>T c.456A>T (p.Glu152Asp) c.585A>T (p.Glu195Asp) | |
| 12 | g.49185933T>C | CA384642638 | TUBA1A | c.433A>G (p.Thr145Ala) c.328A>G (p.Thr110Ala) n.1466A>G c.456A>G (p.Glu152=) c.585A>G (p.Glu195=) | |
| 12 | g.49185933T>G | CA384642642 | TUBA1A | c.433A>C (p.Thr145Pro) c.328A>C (p.Thr110Pro) n.1466A>C c.456A>C (p.Glu152Asp) c.585A>C (p.Glu195Asp) | |
| 12 | g.49185934T>A | CA6550249 | TUBA1A | c.432A>T (p.Gly144=) c.327A>T (p.Gly109=) n.1465A>T c.455A>T (p.Glu152Val) c.584A>T (p.Glu195Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185934T>C | CA384642646 | TUBA1A | c.432A>G (p.Gly144=) c.327A>G (p.Gly109=) n.1465A>G c.455A>G (p.Glu152Gly) c.584A>G (p.Glu195Gly) | |
| 12 | g.49185934T>G | CA384642647 | TUBA1A | c.432A>C (p.Gly144=) c.327A>C (p.Gly109=) n.1465A>C c.455A>C (p.Glu152Ala) c.584A>C (p.Glu195Ala) | |
| 12 | g.49185934T= | CA2035023172 | TUBA1A | c.432A= (p.Gly144=) c.327A= (p.Gly109=) n.1465A= c.455A= (p.Glu152=) c.584A= (p.Glu195=) | |
| 12 | g.49185935C>A | CA384642650 | TUBA1A | c.431G>T (p.Gly144Val) c.326G>T (p.Gly109Val) n.1464G>T c.454G>T (p.Glu152Ter) c.583G>T (p.Glu195Ter) | ClinVar dbSNP |
| 12 | g.49185935C>G | CA384642652 | TUBA1A | c.431G>C (p.Gly144Ala) c.326G>C (p.Gly109Ala) n.1464G>C c.454G>C (p.Glu152Gln) c.583G>C (p.Glu195Gln) | |
| 12 | g.49185935C>T | CA384642654 | TUBA1A | c.431G>A (p.Gly144Glu) c.326G>A (p.Gly109Glu) n.1464G>A c.454G>A (p.Glu152Lys) c.583G>A (p.Glu195Lys) | |
| 12 | g.49185936C>A | CA384642656 | TUBA1A | c.430G>T (p.Gly144Ter) c.325G>T (p.Gly109Ter) n.1463G>T c.453G>T (p.Gly151=) c.582G>T (p.Gly194=) | |
| 12 | g.49185936C>G | CA384642661 | TUBA1A | c.430G>C (p.Gly144Arg) c.325G>C (p.Gly109Arg) n.1463G>C c.453G>C (p.Gly151=) c.582G>C (p.Gly194=) | |
| 12 | g.49185936C>T | CA384642663 | TUBA1A | c.430G>A (p.Gly144Arg) c.325G>A (p.Gly109Arg) n.1463G>A c.453G>A (p.Gly151=) c.582G>A (p.Gly194=) | |
| 12 | g.49185937C>A | CA384642665 | TUBA1A | c.429G>T (p.Gly143=) c.324G>T (p.Gly108=) n.1462G>T c.452G>T (p.Gly151Val) c.581G>T (p.Gly194Val) | |
| 12 | g.49185937C>G | CA384642667 | TUBA1A | c.429G>C (p.Gly143=) c.324G>C (p.Gly108=) n.1462G>C c.452G>C (p.Gly151Ala) c.581G>C (p.Gly194Ala) | |
| 12 | g.49185937C>T | CA384642669 | TUBA1A | c.429G>A (p.Gly143=) c.324G>A (p.Gly108=) n.1462G>A c.452G>A (p.Gly151Glu) c.581G>A (p.Gly194Glu) | dbSNP |
| 12 | g.49185938C>A | CA384642671 | TUBA1A | c.428G>T (p.Gly143Val) c.323G>T (p.Gly108Val) n.1461G>T c.451G>T (p.Gly151Trp) c.580G>T (p.Gly194Trp) | |
| 12 | g.49185938C>G | CA384642673 | TUBA1A | c.428G>C (p.Gly143Ala) c.323G>C (p.Gly108Ala) n.1461G>C c.451G>C (p.Gly151Arg) c.580G>C (p.Gly194Arg) |