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.49185385A= | CA2035022343 | TUBA1A | c.981T= (p.Asp327=) c.876T= (p.Asp292=) n.2014T= c.*437T= (n.*437T=) | |
| 12 | g.49185385A>C | CA384637511 | TUBA1A | c.981T>G (p.Asp327Glu) c.876T>G (p.Asp292Glu) n.2014T>G c.*437T>G (n.*437T>G) | |
| 12 | g.49185385A>G | CA479717147 | TUBA1A | c.981T>C (p.Asp327=) c.876T>C (p.Asp292=) n.2014T>C c.*437T>C (n.*437T>C) | dbSNP |
| 12 | g.49185385A>T | CA384637507 | TUBA1A | c.981T>A (p.Asp327Glu) c.876T>A (p.Asp292Glu) n.2014T>A c.*437T>A (n.*437T>A) | |
| 12 | g.49185386T>A | CA384637515 | TUBA1A | c.980A>T (p.Asp327Val) c.875A>T (p.Asp292Val) n.2013A>T c.*436A>T (n.*436A>T) | |
| 12 | g.49185386T>C | CA384637519 | TUBA1A | c.980A>G (p.Asp327Gly) c.875A>G (p.Asp292Gly) n.2013A>G c.*436A>G (n.*436A>G) | |
| 12 | g.49185386T>G | CA384637524 | TUBA1A | c.980A>C (p.Asp327Ala) c.875A>C (p.Asp292Ala) n.2013A>C c.*436A>C (n.*436A>C) | |
| 12 | g.49185387C>A | CA384637527 | TUBA1A | c.979G>T (p.Asp327Tyr) c.874G>T (p.Asp292Tyr) n.2012G>T c.*435G>T (n.*435G>T) | COSMIC |
| 12 | g.49185387C>G | CA384637529 | TUBA1A | c.979G>C (p.Asp327His) c.874G>C (p.Asp292His) n.2012G>C c.*435G>C (n.*435G>C) | |
| 12 | g.49185387C>T | CA384637532 | TUBA1A | c.979G>A (p.Asp327Asn) c.874G>A (p.Asp292Asn) n.2012G>A c.*435G>A (n.*435G>A) | |
| 12 | g.49185388T>A | CA384637539 | TUBA1A | c.978A>T (p.Lys326Asn) c.873A>T (p.Lys291Asn) n.2011A>T c.*434A>T (n.*434A>T) | |
| 12 | g.49185388T>C | CA479717153 | TUBA1A | c.978A>G (p.Lys326=) c.873A>G (p.Lys291=) n.2011A>G c.*434A>G (n.*434A>G) | dbSNP |
| 12 | g.49185388T>G | CA384637535 | TUBA1A | c.978A>C (p.Lys326Asn) c.873A>C (p.Lys291Asn) n.2011A>C c.*434A>C (n.*434A>C) | ClinVar dbSNP |
| 12 | g.49185388T= | CA2035022348 | TUBA1A | c.978A= (p.Lys326=) c.873A= (p.Lys291=) n.2011A= c.*434A= (n.*434A=) | |
| 12 | g.49185389T>A | CA384637543 | TUBA1A | c.977A>T (p.Lys326Ile) c.872A>T (p.Lys291Ile) n.2010A>T c.*433A>T (n.*433A>T) | |
| 12 | g.49185389T>C | CA384637592 | TUBA1A | c.977A>G (p.Lys326Arg) c.872A>G (p.Lys291Arg) n.2010A>G c.*433A>G (n.*433A>G) | |
| 12 | g.49185389T>G | CA384637594 | TUBA1A | c.977A>C (p.Lys326Thr) c.872A>C (p.Lys291Thr) n.2010A>C c.*433A>C (n.*433A>C) | |
| 12 | g.49185390T>A | CA384637596 | TUBA1A | c.976A>T (p.Lys326Ter) c.871A>T (p.Lys291Ter) n.2009A>T c.*432A>T (n.*432A>T) | |
| 12 | g.49185390T>C | CA384637598 | TUBA1A | c.976A>G (p.Lys326Glu) c.871A>G (p.Lys291Glu) n.2009A>G c.*432A>G (n.*432A>G) | |
| 12 | g.49185390T>G | CA384637600 | TUBA1A | c.976A>C (p.Lys326Gln) c.871A>C (p.Lys291Gln) n.2009A>C c.*432A>C (n.*432A>C) | |
| 12 | g.49185391G>A | CA479717157 | TUBA1A | c.975C>T (p.Pro325=) c.870C>T (p.Pro290=) n.2008C>T c.*431C>T (n.*431C>T) | dbSNP |
| 12 | g.49185391G>C | CA479717159 | TUBA1A | c.975C>G (p.Pro325=) c.870C>G (p.Pro290=) n.2008C>G c.*431C>G (n.*431C>G) | dbSNP gnomAD v4 |
| 12 | g.49185391G= | CA2035022352 | TUBA1A | c.975C= (p.Pro325=) c.870C= (p.Pro290=) n.2008C= c.*431C= (n.*431C=) | |
| 12 | g.49185391G>T | CA479717161 | TUBA1A | c.975C>A (p.Pro325=) c.870C>A (p.Pro290=) n.2008C>A c.*431C>A (n.*431C>A) | |
| 12 | g.49185392G>A | CA384637602 | TUBA1A | c.974C>T (p.Pro325Leu) c.869C>T (p.Pro290Leu) n.2007C>T c.*430C>T (n.*430C>T) | |
| 12 | g.49185392G>C | CA384637646 | TUBA1A | c.974C>G (p.Pro325Arg) c.869C>G (p.Pro290Arg) n.2007C>G c.*430C>G (n.*430C>G) | |
| 12 | g.49185392G>T | CA384637617 | TUBA1A | c.974C>A (p.Pro325His) c.869C>A (p.Pro290His) n.2007C>A c.*430C>A (n.*430C>A) | |
| 12 | g.49185393G>A | CA384637651 | TUBA1A | c.973C>T (p.Pro325Ser) c.868C>T (p.Pro290Ser) n.2006C>T c.*429C>T (n.*429C>T) | |
| 12 | g.49185393G>C | CA384637653 | TUBA1A | c.973C>G (p.Pro325Ala) c.868C>G (p.Pro290Ala) n.2006C>G c.*429C>G (n.*429C>G) | |
| 12 | g.49185393G>T | CA384637654 | TUBA1A | c.973C>A (p.Pro325Thr) c.868C>A (p.Pro290Thr) n.2006C>A c.*429C>A (n.*429C>A) | |
| 12 | g.49185394A= | CA2035022354 | TUBA1A | c.972T= (p.Val324=) c.867T= (p.Val289=) n.2005T= c.*428T= (n.*428T=) | |
| 12 | g.49185394A>C | CA479717164 | TUBA1A | c.972T>G (p.Val324=) c.867T>G (p.Val289=) n.2005T>G c.*428T>G (n.*428T>G) | |
| 12 | g.49185394A>G | CA479717165 | TUBA1A | c.972T>C (p.Val324=) c.867T>C (p.Val289=) n.2005T>C c.*428T>C (n.*428T>C) | dbSNP |
| 12 | g.49185394A>T | CA479717166 | TUBA1A | c.972T>A (p.Val324=) c.867T>A (p.Val289=) n.2005T>A c.*428T>A (n.*428T>A) | |
| 12 | g.49185395A>C | CA384637657 | TUBA1A | c.971T>G (p.Val324Gly) c.866T>G (p.Val289Gly) n.2004T>G c.*427T>G (n.*427T>G) | |
| 12 | g.49185395A>G | CA384637666 | TUBA1A | c.971T>C (p.Val324Ala) c.866T>C (p.Val289Ala) n.2004T>C c.*427T>C (n.*427T>C) | |
| 12 | g.49185395A>T | CA384637668 | TUBA1A | c.971T>A (p.Val324Asp) c.866T>A (p.Val289Asp) n.2004T>A c.*427T>A (n.*427T>A) | |
| 12 | g.49185396C>A | CA384637671 | TUBA1A | c.970G>T (p.Val324Phe) c.865G>T (p.Val289Phe) n.2003G>T c.*426G>T (n.*426G>T) | |
| 12 | g.49185396C= | CA2035022360 | TUBA1A | c.970G= (p.Val324=) c.865G= (p.Val289=) n.2003G= c.*426G= (n.*426G=) | |
| 12 | g.49185396C>G | CA213342 | TUBA1A | c.970G>C (p.Val324Leu) c.865G>C (p.Val289Leu) n.2003G>C c.*426G>C (n.*426G>C) | ClinVar dbSNP |
| 12 | g.49185396C>T | CA384637681 | TUBA1A | c.970G>A (p.Val324Ile) c.865G>A (p.Val289Ile) n.2003G>A c.*426G>A (n.*426G>A) | |
| 12 | g.49185397C>A | CA479717169 | TUBA1A | c.969G>T (p.Val323=) c.864G>T (p.Val288=) n.2002G>T c.*425G>T (n.*425G>T) | dbSNP |
| 12 | g.49185397C= | CA2035022364 | TUBA1A | c.969G= (p.Val323=) c.864G= (p.Val288=) n.2002G= c.*425G= (n.*425G=) | |
| 12 | g.49185397C>G | CA479717171 | TUBA1A | c.969G>C (p.Val323=) c.864G>C (p.Val288=) n.2002G>C c.*425G>C (n.*425G>C) | dbSNP |
| 12 | g.49185397C>T | CA479717174 | TUBA1A | c.969G>A (p.Val323=) c.864G>A (p.Val288=) n.2002G>A c.*425G>A (n.*425G>A) | |
| 12 | g.49185398A>C | CA384637690 | TUBA1A | c.968T>G (p.Val323Gly) c.863T>G (p.Val288Gly) n.2001T>G c.*424T>G (n.*424T>G) | |
| 12 | g.49185398A>G | CA384637709 | TUBA1A | c.968T>C (p.Val323Ala) c.863T>C (p.Val288Ala) n.2001T>C c.*424T>C (n.*424T>C) | |
| 12 | g.49185398A>T | CA384637714 | TUBA1A | c.968T>A (p.Val323Glu) c.863T>A (p.Val288Glu) n.2001T>A c.*424T>A (n.*424T>A) | |
| 12 | g.49185399C>A | CA384637735 | TUBA1A | c.967G>T (p.Val323Leu) c.862G>T (p.Val288Leu) n.2000G>T c.*423G>T (n.*423G>T) | |
| 12 | g.49185399C>G | CA384637731 | TUBA1A | c.967G>C (p.Val323Leu) c.862G>C (p.Val288Leu) n.2000G>C c.*423G>C (n.*423G>C) |