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.49185887T>A | CA384642329 | TUBA1A | c.479A>T (p.Asp160Val) c.374A>T (p.Asp125Val) n.1512A>T c.502A>T (p.Ile168Phe) c.631A>T (p.Ile211Phe) | |
| 12 | g.49185887T>C | CA384642322 | TUBA1A | c.479A>G (p.Asp160Gly) c.374A>G (p.Asp125Gly) n.1512A>G c.502A>G (p.Ile168Val) c.631A>G (p.Ile211Val) | |
| 12 | g.49185887T>G | CA384642327 | TUBA1A | c.479A>C (p.Asp160Ala) c.374A>C (p.Asp125Ala) n.1512A>C c.502A>C (p.Ile168Leu) c.631A>C (p.Ile211Leu) | |
| 12 | g.49185888C>A | CA384642332 | TUBA1A | c.478G>T (p.Asp160Tyr) c.373G>T (p.Asp125Tyr) n.1511G>T c.501G>T (p.Leu167Phe) c.630G>T (p.Leu210Phe) | |
| 12 | g.49185888C>G | CA384642335 | TUBA1A | c.478G>C (p.Asp160His) c.373G>C (p.Asp125His) n.1511G>C c.501G>C (p.Leu167Phe) c.630G>C (p.Leu210Phe) | |
| 12 | g.49185888C>T | CA384642337 | TUBA1A | c.478G>A (p.Asp160Asn) c.373G>A (p.Asp125Asn) n.1511G>A c.501G>A (p.Leu167=) c.630G>A (p.Leu210=) | |
| 12 | g.49185889A>C | CA384642346 | TUBA1A | c.477T>G (p.Val159=) c.372T>G (p.Val124=) n.1510T>G c.500T>G (p.Leu167Trp) c.629T>G (p.Leu210Trp) | |
| 12 | g.49185889A>G | CA384642343 | TUBA1A | c.477T>C (p.Val159=) c.372T>C (p.Val124=) n.1510T>C c.500T>C (p.Leu167Ser) c.629T>C (p.Leu210Ser) | gnomAD v4 |
| 12 | g.49185889A>T | CA384642340 | TUBA1A | c.477T>A (p.Val159=) c.372T>A (p.Val124=) n.1510T>A c.500T>A (p.Leu167Ter) c.629T>A (p.Leu210Ter) | |
| 12 | g.49185890A>C | CA384642350 | TUBA1A | c.476T>G (p.Val159Gly) c.371T>G (p.Val124Gly) n.1509T>G c.499T>G (p.Leu167Val) c.628T>G (p.Leu210Val) | |
| 12 | g.49185890A>G | CA384642353 | TUBA1A | c.476T>C (p.Val159Ala) c.371T>C (p.Val124Ala) n.1509T>C c.499T>C (p.Leu167=) c.628T>C (p.Leu210=) | |
| 12 | g.49185890A>T | CA384642355 | TUBA1A | c.476T>A (p.Val159Asp) c.371T>A (p.Val124Asp) n.1509T>A c.499T>A (p.Leu167Met) c.628T>A (p.Leu210Met) | |
| 12 | g.49185891C>A | CA384642359 | TUBA1A | c.475G>T (p.Val159Phe) c.370G>T (p.Val124Phe) n.1508G>T c.498G>T (p.Gln166His) c.627G>T (p.Gln209His) | |
| 12 | g.49185891C>G | CA384642361 | TUBA1A | c.475G>C (p.Val159Leu) c.370G>C (p.Val124Leu) n.1508G>C c.498G>C (p.Gln166His) c.627G>C (p.Gln209His) | |
| 12 | g.49185891C>T | CA384642363 | TUBA1A | c.475G>A (p.Val159Ile) c.370G>A (p.Val124Ile) n.1508G>A c.498G>A (p.Gln166=) c.627G>A (p.Gln209=) | |
| 12 | g.49185892T>A | CA384642367 | TUBA1A | c.474A>T (p.Ser158=) c.369A>T (p.Ser123=) n.1507A>T c.497A>T (p.Gln166Leu) c.626A>T (p.Gln209Leu) | |
| 12 | g.49185892T>C | CA384642371 | TUBA1A | c.474A>G (p.Ser158=) c.369A>G (p.Ser123=) n.1507A>G c.497A>G (p.Gln166Arg) c.626A>G (p.Gln209Arg) | |
| 12 | g.49185892T>G | CA384642370 | TUBA1A | c.474A>C (p.Ser158=) c.369A>C (p.Ser123=) n.1507A>C c.497A>C (p.Gln166Pro) c.626A>C (p.Gln209Pro) | |
| 12 | g.49185893G>A | CA384642375 | TUBA1A | c.473C>T (p.Ser158Leu) c.368C>T (p.Ser123Leu) n.1506C>T c.496C>T (p.Gln166Ter) c.625C>T (p.Gln209Ter) | ClinVar dbSNP |
| 12 | g.49185893G>C | CA384642378 | TUBA1A | c.473C>G (p.Ser158Ter) c.368C>G (p.Ser123Ter) n.1506C>G c.496C>G (p.Gln166Glu) c.625C>G (p.Gln209Glu) | |
| 12 | g.49185893G= | CA2035023112 | TUBA1A | c.473C= (p.Ser158=) c.368C= (p.Ser123=) n.1506C= c.496C= (p.Gln166=) c.625C= (p.Gln209=) | |
| 12 | g.49185893G>T | CA384642381 | TUBA1A | c.473C>A (p.Ser158Ter) c.368C>A (p.Ser123Ter) n.1506C>A c.496C>A (p.Gln166Lys) c.625C>A (p.Gln209Lys) | |
| 12 | g.49185894A>C | CA384642384 | TUBA1A | c.472T>G (p.Ser158Ala) c.367T>G (p.Ser123Ala) n.1505T>G c.495T>G (p.Ser165=) c.624T>G (p.Ser208=) | |
| 12 | g.49185894A>G | CA384642387 | TUBA1A | c.472T>C (p.Ser158Pro) c.367T>C (p.Ser123Pro) n.1505T>C c.495T>C (p.Ser165=) c.624T>C (p.Ser208=) | |
| 12 | g.49185894A>T | CA384642390 | TUBA1A | c.472T>A (p.Ser158Thr) c.367T>A (p.Ser123Thr) n.1505T>A c.495T>A (p.Ser165=) c.624T>A (p.Ser208=) | |
| 12 | g.49185895G>A | CA6550246 | TUBA1A | c.471C>T (p.Leu157=) c.366C>T (p.Leu122=) n.1504C>T c.494C>T (p.Ser165Phe) c.623C>T (p.Ser208Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185895G>C | CA384642393 | TUBA1A | c.471C>G (p.Leu157=) c.366C>G (p.Leu122=) n.1504C>G c.494C>G (p.Ser165Cys) c.623C>G (p.Ser208Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185895G= | CA2035023117 | TUBA1A | c.471C= (p.Leu157=) c.366C= (p.Leu122=) n.1504C= c.494C= (p.Ser165=) c.623C= (p.Ser208=) | |
| 12 | g.49185895G>T | CA384642394 | TUBA1A | c.471C>A (p.Leu157=) c.366C>A (p.Leu122=) n.1504C>A c.494C>A (p.Ser165Tyr) c.623C>A (p.Ser208Tyr) | |
| 12 | g.49185896A>C | CA384642397 | TUBA1A | c.470T>G (p.Leu157Arg) c.365T>G (p.Leu122Arg) n.1503T>G c.493T>G (p.Ser165Ala) c.622T>G (p.Ser208Ala) | |
| 12 | g.49185896A>G | CA384642398 | TUBA1A | c.470T>C (p.Leu157Pro) c.365T>C (p.Leu122Pro) n.1503T>C c.493T>C (p.Ser165Pro) c.622T>C (p.Ser208Pro) | |
| 12 | g.49185896A>T | CA384642400 | TUBA1A | c.470T>A (p.Leu157His) c.365T>A (p.Leu122His) n.1503T>A c.493T>A (p.Ser165Thr) c.622T>A (p.Ser208Thr) | |
| 12 | g.49185897G>A | CA384642405 | TUBA1A | c.469C>T (p.Leu157Phe) c.364C>T (p.Leu122Phe) n.1502C>T c.492C>T (p.Val164=) c.621C>T (p.Val207=) | |
| 12 | g.49185897G>C | CA384642408 | TUBA1A | c.469C>G (p.Leu157Val) c.364C>G (p.Leu122Val) n.1502C>G c.492C>G (p.Val164=) c.621C>G (p.Val207=) | |
| 12 | g.49185897G>T | CA384642403 | TUBA1A | c.469C>A (p.Leu157Ile) c.364C>A (p.Leu122Ile) n.1502C>A c.492C>A (p.Val164=) c.621C>A (p.Val207=) | |
| 12 | g.49185898A= | CA2035023120 | TUBA1A | c.468T= (p.Arg156=) c.363T= (p.Arg121=) n.1501T= c.491T= (p.Val164=) c.620T= (p.Val207=) | |
| 12 | g.49185898A>C | CA384642412 | TUBA1A | c.468T>G (p.Arg156=) c.363T>G (p.Arg121=) n.1501T>G c.491T>G (p.Val164Gly) c.620T>G (p.Val207Gly) | |
| 12 | g.49185898A>G | CA384642413 | TUBA1A | c.468T>C (p.Arg156=) c.363T>C (p.Arg121=) n.1501T>C c.491T>C (p.Val164Ala) c.620T>C (p.Val207Ala) | |
| 12 | g.49185898A>T | CA384642415 | TUBA1A | c.468T>A (p.Arg156=) c.363T>A (p.Arg121=) n.1501T>A c.491T>A (p.Val164Asp) c.620T>A (p.Val207Asp) | dbSNP gnomAD v4 |
| 12 | g.49185899C>A | CA384642417 | TUBA1A | c.467G>T (p.Arg156Leu) c.362G>T (p.Arg121Leu) n.1500G>T c.490G>T (p.Val164Phe) c.619G>T (p.Val207Phe) | |
| 12 | g.49185899C= | CA2035023124 | TUBA1A | c.467G= (p.Arg156=) c.362G= (p.Arg121=) n.1500G= c.490G= (p.Val164=) c.619G= (p.Val207=) | |
| 12 | g.49185899C>G | CA384642419 | TUBA1A | c.467G>C (p.Arg156Pro) c.362G>C (p.Arg121Pro) n.1500G>C c.490G>C (p.Val164Leu) c.619G>C (p.Val207Leu) | |
| 12 | g.49185899C>T | CA384642420 | TUBA1A | c.467G>A (p.Arg156His) c.362G>A (p.Arg121His) n.1500G>A c.490G>A (p.Val164Ile) c.619G>A (p.Val207Ile) | ClinVar dbSNP COSMIC |
| 12 | g.49185900G>A | CA384642427 | TUBA1A | c.466C>T (p.Arg156Cys) c.361C>T (p.Arg121Cys) n.1499C>T c.489C>T (p.Asn163=) c.618C>T (p.Asn206=) | |
| 12 | g.49185900G>C | CA384642425 | TUBA1A | c.466C>G (p.Arg156Gly) c.361C>G (p.Arg121Gly) n.1499C>G c.489C>G (p.Asn163Lys) c.618C>G (p.Asn206Lys) | |
| 12 | g.49185900G>T | CA384642423 | TUBA1A | c.466C>A (p.Arg156Ser) c.361C>A (p.Arg121Ser) n.1499C>A c.489C>A (p.Asn163Lys) c.618C>A (p.Asn206Lys) | |
| 12 | g.49185901T>A | CA384642430 | TUBA1A | c.465A>T (p.Glu155Asp) c.360A>T (p.Glu120Asp) n.1498A>T c.488A>T (p.Asn163Ile) c.617A>T (p.Asn206Ile) | |
| 12 | g.49185901T>C | CA384642433 | TUBA1A | c.465A>G (p.Glu155=) c.360A>G (p.Glu120=) n.1498A>G c.488A>G (p.Asn163Ser) c.617A>G (p.Asn206Ser) | gnomAD v4 |
| 12 | g.49185901T>G | CA384642435 | TUBA1A | c.465A>C (p.Glu155Asp) c.360A>C (p.Glu120Asp) n.1498A>C c.488A>C (p.Asn163Thr) c.617A>C (p.Asn206Thr) | |
| 12 | g.49185902T>A | CA384642438 | TUBA1A | c.464A>T (p.Glu155Val) c.359A>T (p.Glu120Val) n.1497A>T c.487A>T (p.Asn163Tyr) c.616A>T (p.Asn206Tyr) |