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 |
|---|---|---|---|---|---|
| 16 | g.89935296G>A | CA397475540 | TUBB3 | c.845G>A (p.Arg282Gln) n.4266G>A c.629G>A (p.Arg210Gln) c.277+1718G>A (n.277+1718G>A) c.*930G>A (n.*930G>A) c.1886G>A (p.Arg629Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.89935296G>C | CA16620315 | TUBB3 | c.845G>C (p.Arg282Pro) n.4266G>C c.629G>C (p.Arg210Pro) c.277+1718G>C (n.277+1718G>C) c.*930G>C (n.*930G>C) c.1886G>C (p.Arg629Pro) | ClinVar dbSNP |
| 16 | g.89935296G= | CA2242020196 | TUBB3 | c.845G= (p.Arg282=) n.4266G= c.629G= (p.Arg210=) c.277+1718G= (n.277+1718G=) c.*930G= (n.*930G=) c.1886G= (p.Arg629=) | |
| 16 | g.89935296G>T | CA397475544 | TUBB3 | c.845G>T (p.Arg282Leu) n.4266G>T c.629G>T (p.Arg210Leu) c.277+1718G>T (n.277+1718G>T) c.*930G>T (n.*930G>T) c.1886G>T (p.Arg629Leu) | |
| 16 | g.89935297G>A | CA497381358 | TUBB3 | c.846G>A (p.Arg282=) n.4267G>A c.630G>A (p.Arg210=) c.277+1719G>A (n.277+1719G>A) c.*931G>A (n.*931G>A) c.1887G>A (p.Arg629=) | dbSNP |
| 16 | g.89935297G>C | CA497381359 | TUBB3 | c.846G>C (p.Arg282=) n.4267G>C c.630G>C (p.Arg210=) c.277+1719G>C (n.277+1719G>C) c.*931G>C (n.*931G>C) c.1887G>C (p.Arg629=) | |
| 16 | g.89935297G= | CA2242020199 | TUBB3 | c.846G= (p.Arg282=) n.4267G= c.630G= (p.Arg210=) c.277+1719G= (n.277+1719G=) c.*931G= (n.*931G=) c.1887G= (p.Arg629=) | |
| 16 | g.89935297G>T | CA497381360 | TUBB3 | c.846G>T (p.Arg282=) n.4267G>T c.630G>T (p.Arg210=) c.277+1719G>T (n.277+1719G>T) c.*931G>T (n.*931G>T) c.1887G>T (p.Arg629=) | |
| 16 | g.89935298G>A | CA397475553 | TUBB3 | c.847G>A (p.Ala283Thr) n.4268G>A c.631G>A (p.Ala211Thr) c.277+1720G>A (n.277+1720G>A) c.*932G>A (n.*932G>A) c.1888G>A (p.Ala630Thr) | |
| 16 | g.89935298G>C | CA397475548 | TUBB3 | c.847G>C (p.Ala283Pro) n.4268G>C c.631G>C (p.Ala211Pro) c.277+1720G>C (n.277+1720G>C) c.*932G>C (n.*932G>C) c.1888G>C (p.Ala630Pro) | |
| 16 | g.89935298G>T | CA397475551 | TUBB3 | c.847G>T (p.Ala283Ser) n.4268G>T c.631G>T (p.Ala211Ser) c.277+1720G>T (n.277+1720G>T) c.*932G>T (n.*932G>T) c.1888G>T (p.Ala630Ser) | gnomAD v4 |
| 16 | g.89935299C>A | CA397475555 | TUBB3 | c.848C>A (p.Ala283Asp) n.4269C>A c.632C>A (p.Ala211Asp) c.277+1721C>A (n.277+1721C>A) c.*933C>A (n.*933C>A) c.1889C>A (p.Ala630Asp) | COSMIC |
| 16 | g.89935299C>G | CA397475557 | TUBB3 | c.848C>G (p.Ala283Gly) n.4269C>G c.632C>G (p.Ala211Gly) c.277+1721C>G (n.277+1721C>G) c.*933C>G (n.*933C>G) c.1889C>G (p.Ala630Gly) | |
| 16 | g.89935299C>T | CA397475569 | TUBB3 | c.848C>T (p.Ala283Val) n.4269C>T c.632C>T (p.Ala211Val) c.277+1721C>T (n.277+1721C>T) c.*933C>T (n.*933C>T) c.1889C>T (p.Ala630Val) | |
| 16 | g.89935300C>A | CA497381369 | TUBB3 | c.849C>A (p.Ala283=) n.4270C>A c.633C>A (p.Ala211=) c.277+1722C>A (n.277+1722C>A) c.*934C>A (n.*934C>A) c.1890C>A (p.Ala630=) | |
| 16 | g.89935300C= | CA2242020201 | TUBB3 | c.849C= (p.Ala283=) n.4270C= c.633C= (p.Ala211=) c.277+1722C= (n.277+1722C=) c.*934C= (n.*934C=) c.1890C= (p.Ala630=) | |
| 16 | g.89935300C>G | CA497381368 | TUBB3 | c.849C>G (p.Ala283=) n.4270C>G c.633C>G (p.Ala211=) c.277+1722C>G (n.277+1722C>G) c.*934C>G (n.*934C>G) c.1890C>G (p.Ala630=) | |
| 16 | g.89935300C>T | CA497381366 | TUBB3 | c.849C>T (p.Ala283=) n.4270C>T c.633C>T (p.Ala211=) c.277+1722C>T (n.277+1722C>T) c.*934C>T (n.*934C>T) c.1890C>T (p.Ala630=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935301C>A | CA397475571 | TUBB3 | c.850C>A (p.Leu284Met) n.4271C>A c.634C>A (p.Leu212Met) c.277+1723C>A (n.277+1723C>A) c.*935C>A (n.*935C>A) c.1891C>A (p.Leu631Met) | |
| 16 | g.89935301C>G | CA397475574 | TUBB3 | c.850C>G (p.Leu284Val) n.4271C>G c.634C>G (p.Leu212Val) c.277+1723C>G (n.277+1723C>G) c.*935C>G (n.*935C>G) c.1891C>G (p.Leu631Val) | |
| 16 | g.89935301C>T | CA497381370 | TUBB3 | c.850C>T (p.Leu284=) n.4271C>T c.634C>T (p.Leu212=) c.277+1723C>T (n.277+1723C>T) c.*935C>T (n.*935C>T) c.1891C>T (p.Leu631=) | |
| 16 | g.89935302T>A | CA397475576 | TUBB3 | c.851T>A (p.Leu284Gln) n.4272T>A c.635T>A (p.Leu212Gln) c.277+1724T>A (n.277+1724T>A) c.*936T>A (n.*936T>A) c.1892T>A (p.Leu631Gln) | |
| 16 | g.89935302T>C | CA397475588 | TUBB3 | c.851T>C (p.Leu284Pro) n.4272T>C c.635T>C (p.Leu212Pro) c.277+1724T>C (n.277+1724T>C) c.*936T>C (n.*936T>C) c.1892T>C (p.Leu631Pro) | |
| 16 | g.89935302T>G | CA397475586 | TUBB3 | c.851T>G (p.Leu284Arg) n.4272T>G c.635T>G (p.Leu212Arg) c.277+1724T>G (n.277+1724T>G) c.*936T>G (n.*936T>G) c.1892T>G (p.Leu631Arg) | |
| 16 | g.89935303G>A | CA497381377 | TUBB3 | c.852G>A (p.Leu284=) n.4273G>A c.636G>A (p.Leu212=) c.277+1725G>A (n.277+1725G>A) c.*937G>A (n.*937G>A) c.1893G>A (p.Leu631=) | |
| 16 | g.89935303G>C | CA497381375 | TUBB3 | c.852G>C (p.Leu284=) n.4273G>C c.636G>C (p.Leu212=) c.277+1725G>C (n.277+1725G>C) c.*937G>C (n.*937G>C) c.1893G>C (p.Leu631=) | |
| 16 | g.89935303G>T | CA497381373 | TUBB3 | c.852G>T (p.Leu284=) n.4273G>T c.636G>T (p.Leu212=) c.277+1725G>T (n.277+1725G>T) c.*937G>T (n.*937G>T) c.1893G>T (p.Leu631=) | |
| 16 | g.89935304A= | CA2242020203 | TUBB3 | c.853A= (p.Thr285=) n.4274A= c.637A= (p.Thr213=) c.277+1726A= (n.277+1726A=) c.*938A= (n.*938A=) c.1894A= (p.Thr632=) | |
| 16 | g.89935304A>C | CA397475590 | TUBB3 | c.853A>C (p.Thr285Pro) n.4274A>C c.637A>C (p.Thr213Pro) c.277+1726A>C (n.277+1726A>C) c.*938A>C (n.*938A>C) c.1894A>C (p.Thr632Pro) | |
| 16 | g.89935304A>G | CA397475593 | TUBB3 | c.853A>G (p.Thr285Ala) n.4274A>G c.637A>G (p.Thr213Ala) c.277+1726A>G (n.277+1726A>G) c.*938A>G (n.*938A>G) c.1894A>G (p.Thr632Ala) | |
| 16 | g.89935304A>T | CA397475595 | TUBB3 | c.853A>T (p.Thr285Ser) n.4274A>T c.637A>T (p.Thr213Ser) c.277+1726A>T (n.277+1726A>T) c.*938A>T (n.*938A>T) c.1894A>T (p.Thr632Ser) | gnomAD v4 |
| 16 | g.89935305C>A | CA397475599 | TUBB3 | c.854C>A (p.Thr285Asn) n.4275C>A c.638C>A (p.Thr213Asn) c.277+1727C>A (n.277+1727C>A) c.*939C>A (n.*939C>A) c.1895C>A (p.Thr632Asn) | |
| 16 | g.89935305C>G | CA397475600 | TUBB3 | c.854C>G (p.Thr285Ser) n.4275C>G c.638C>G (p.Thr213Ser) c.277+1727C>G (n.277+1727C>G) c.*939C>G (n.*939C>G) c.1895C>G (p.Thr632Ser) | |
| 16 | g.89935305C>T | CA397475602 | TUBB3 | c.854C>T (p.Thr285Ile) n.4275C>T c.638C>T (p.Thr213Ile) c.277+1727C>T (n.277+1727C>T) c.*939C>T (n.*939C>T) c.1895C>T (p.Thr632Ile) | ClinVar |
| 16 | g.89935306dup | CA8256172 | TUBB3 | c.855dup (p.Val286ArgfsTer?) n.4276dup c.639dup (p.Val214ArgfsTer?) c.277+1728dup (n.277+1728dup) c.*940dup (n.*940dup) c.1896dup (p.Val633ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89935306C>A | CA497381380 | TUBB3 | c.855C>A (p.Thr285=) n.4276C>A c.639C>A (p.Thr213=) c.277+1728C>A (n.277+1728C>A) c.*940C>A (n.*940C>A) c.1896C>A (p.Thr632=) | dbSNP gnomAD v4 |
| 16 | g.89935306C= | CA2242020207 | TUBB3 | c.855C= (p.Thr285=) n.4276C= c.639C= (p.Thr213=) c.277+1728C= (n.277+1728C=) c.*940C= (n.*940C=) c.1896C= (p.Thr632=) | |
| 16 | g.89935306C>G | CA497381381 | TUBB3 | c.855C>G (p.Thr285=) n.4276C>G c.639C>G (p.Thr213=) c.277+1728C>G (n.277+1728C>G) c.*940C>G (n.*940C>G) c.1896C>G (p.Thr632=) | gnomAD v4 |
| 16 | g.89935306C>T | CA8256173 | TUBB3 | c.855C>T (p.Thr285=) n.4276C>T c.639C>T (p.Thr213=) c.277+1728C>T (n.277+1728C>T) c.*940C>T (n.*940C>T) c.1896C>T (p.Thr632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935307G>A | CA397475606 | TUBB3 | c.856G>A (p.Val286Met) n.4277G>A c.640G>A (p.Val214Met) c.277+1729G>A (n.277+1729G>A) c.*941G>A (n.*941G>A) c.1897G>A (p.Val633Met) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89935307G>C | CA397475607 | TUBB3 | c.856G>C (p.Val286Leu) n.4277G>C c.640G>C (p.Val214Leu) c.277+1729G>C (n.277+1729G>C) c.*941G>C (n.*941G>C) c.1897G>C (p.Val633Leu) | gnomAD v4 |
| 16 | g.89935307G= | CA2242020212 | TUBB3 | c.856G= (p.Val286=) n.4277G= c.640G= (p.Val214=) c.277+1729G= (n.277+1729G=) c.*941G= (n.*941G=) c.1897G= (p.Val633=) | |
| 16 | g.89935307G>T | CA397475608 | TUBB3 | c.856G>T (p.Val286Leu) n.4277G>T c.640G>T (p.Val214Leu) c.277+1729G>T (n.277+1729G>T) c.*941G>T (n.*941G>T) c.1897G>T (p.Val633Leu) | |
| 16 | g.89935308T>A | CA397475610 | TUBB3 | c.857T>A (p.Val286Glu) n.4278T>A c.641T>A (p.Val214Glu) c.277+1730T>A (n.277+1730T>A) c.*942T>A (n.*942T>A) c.1898T>A (p.Val633Glu) | |
| 16 | g.89935308T>C | CA397475617 | TUBB3 | c.857T>C (p.Val286Ala) n.4278T>C c.641T>C (p.Val214Ala) c.277+1730T>C (n.277+1730T>C) c.*942T>C (n.*942T>C) c.1898T>C (p.Val633Ala) | |
| 16 | g.89935308T>G | CA397475615 | TUBB3 | c.857T>G (p.Val286Gly) n.4278T>G c.641T>G (p.Val214Gly) c.277+1730T>G (n.277+1730T>G) c.*942T>G (n.*942T>G) c.1898T>G (p.Val633Gly) | |
| 16 | g.89935309G>A | CA497381384 | TUBB3 | c.858G>A (p.Val286=) n.4279G>A c.642G>A (p.Val214=) c.277+1731G>A (n.277+1731G>A) c.*943G>A (n.*943G>A) c.1899G>A (p.Val633=) | dbSNP gnomAD v4 |
| 16 | g.89935309G>C | CA497381385 | TUBB3 | c.858G>C (p.Val286=) n.4279G>C c.642G>C (p.Val214=) c.277+1731G>C (n.277+1731G>C) c.*943G>C (n.*943G>C) c.1899G>C (p.Val633=) | |
| 16 | g.89935309G= | CA2242020214 | TUBB3 | c.858G= (p.Val286=) n.4279G= c.642G= (p.Val214=) c.277+1731G= (n.277+1731G=) c.*943G= (n.*943G=) c.1899G= (p.Val633=) | |
| 16 | g.89935309G>T | CA497381386 | TUBB3 | c.858G>T (p.Val286=) n.4279G>T c.642G>T (p.Val214=) c.277+1731G>T (n.277+1731G>T) c.*943G>T (n.*943G>T) c.1899G>T (p.Val633=) | gnomAD v4 |