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.49185371A= | CA2035022304 | TUBA1A | c.995T= (p.Ile332=) c.890T= (p.Ile297=) n.2028T= c.*451T= (n.*451T=) | |
| 12 | g.49185371A>C | CA384637366 | TUBA1A | c.995T>G (p.Ile332Ser) c.890T>G (p.Ile297Ser) n.2028T>G c.*451T>G (n.*451T>G) | |
| 12 | g.49185371A>G | CA213289 | TUBA1A | c.995T>C (p.Ile332Thr) c.890T>C (p.Ile297Thr) n.2028T>C c.*451T>C (n.*451T>C) | ClinVar dbSNP |
| 12 | g.49185371A>T | CA384637374 | TUBA1A | c.995T>A (p.Ile332Asn) c.890T>A (p.Ile297Asn) n.2028T>A c.*451T>A (n.*451T>A) | |
| 12 | g.49185372T>A | CA384637379 | TUBA1A | c.994A>T (p.Ile332Phe) c.889A>T (p.Ile297Phe) n.2027A>T c.*450A>T (n.*450A>T) | |
| 12 | g.49185372T>C | CA384637383 | TUBA1A | c.994A>G (p.Ile332Val) c.889A>G (p.Ile297Val) n.2027A>G c.*450A>G (n.*450A>G) | dbSNP |
| 12 | g.49185372T>G | CA384637382 | TUBA1A | c.994A>C (p.Ile332Leu) c.889A>C (p.Ile297Leu) n.2027A>C c.*450A>C (n.*450A>C) | |
| 12 | g.49185372T= | CA2035022307 | TUBA1A | c.994A= (p.Ile332=) c.889A= (p.Ile297=) n.2027A= c.*450A= (n.*450A=) | |
| 12 | g.49185373G>A | CA479717117 | TUBA1A | c.993C>T (p.Ala331=) c.888C>T (p.Ala296=) n.2026C>T c.*449C>T (n.*449C>T) | dbSNP gnomAD v4 |
| 12 | g.49185373G>C | CA6550216 | TUBA1A | c.993C>G (p.Ala331=) c.888C>G (p.Ala296=) n.2026C>G c.*449C>G (n.*449C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185373G= | CA2035022313 | TUBA1A | c.993C= (p.Ala331=) c.888C= (p.Ala296=) n.2026C= c.*449C= (n.*449C=) | |
| 12 | g.49185373G>T | CA479717118 | TUBA1A | c.993C>A (p.Ala331=) c.888C>A (p.Ala296=) n.2026C>A c.*449C>A (n.*449C>A) | |
| 12 | g.49185374G>A | CA384637384 | TUBA1A | c.992C>T (p.Ala331Val) c.887C>T (p.Ala296Val) n.2025C>T c.*448C>T (n.*448C>T) | |
| 12 | g.49185374G>C | CA384637386 | TUBA1A | c.992C>G (p.Ala331Gly) c.887C>G (p.Ala296Gly) n.2025C>G c.*448C>G (n.*448C>G) | |
| 12 | g.49185374G>T | CA384637394 | TUBA1A | c.992C>A (p.Ala331Asp) c.887C>A (p.Ala296Asp) n.2025C>A c.*448C>A (n.*448C>A) | |
| 12 | g.49185375C>A | CA384637401 | TUBA1A | c.991G>T (p.Ala331Ser) c.886G>T (p.Ala296Ser) n.2024G>T c.*447G>T (n.*447G>T) | |
| 12 | g.49185375C= | CA2035022319 | TUBA1A | c.991G= (p.Ala331=) c.886G= (p.Ala296=) n.2024G= c.*447G= (n.*447G=) | |
| 12 | g.49185375C>G | CA384637405 | TUBA1A | c.991G>C (p.Ala331Pro) c.886G>C (p.Ala296Pro) n.2024G>C c.*447G>C (n.*447G>C) | |
| 12 | g.49185375C>T | CA213287 | TUBA1A | c.991G>A (p.Ala331Thr) c.886G>A (p.Ala296Thr) n.2024G>A c.*447G>A (n.*447G>A) | ClinVar dbSNP |
| 12 | g.49185376A= | CA2035022325 | TUBA1A | c.990T= (p.Ala330=) c.885T= (p.Ala295=) n.2023T= c.*446T= (n.*446T=) | |
| 12 | g.49185376A>C | CA479717125 | TUBA1A | c.990T>G (p.Ala330=) c.885T>G (p.Ala295=) n.2023T>G c.*446T>G (n.*446T>G) | |
| 12 | g.49185376A>G | CA6550217 | TUBA1A | c.990T>C (p.Ala330=) c.885T>C (p.Ala295=) n.2023T>C c.*446T>C (n.*446T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185376A>T | CA479717128 | TUBA1A | c.990T>A (p.Ala330=) c.885T>A (p.Ala295=) n.2023T>A c.*446T>A (n.*446T>A) | dbSNP |
| 12 | g.49185377G>A | CA384637415 | TUBA1A | c.989C>T (p.Ala330Val) c.884C>T (p.Ala295Val) n.2022C>T c.*445C>T (n.*445C>T) | |
| 12 | g.49185377G>C | CA384637416 | TUBA1A | c.989C>G (p.Ala330Gly) c.884C>G (p.Ala295Gly) n.2022C>G c.*445C>G (n.*445C>G) | |
| 12 | g.49185377G>T | CA384637418 | TUBA1A | c.989C>A (p.Ala330Asp) c.884C>A (p.Ala295Asp) n.2022C>A c.*445C>A (n.*445C>A) | |
| 12 | g.49185378C>A | CA384637439 | TUBA1A | c.988G>T (p.Ala330Ser) c.883G>T (p.Ala295Ser) n.2021G>T c.*444G>T (n.*444G>T) | |
| 12 | g.49185378C= | CA2035022329 | TUBA1A | c.988G= (p.Ala330=) c.883G= (p.Ala295=) n.2021G= c.*444G= (n.*444G=) | |
| 12 | g.49185378C>G | CA384637421 | TUBA1A | c.988G>C (p.Ala330Pro) c.883G>C (p.Ala295Pro) n.2021G>C c.*444G>C (n.*444G>C) | |
| 12 | g.49185378C>T | CA384637432 | TUBA1A | c.988G>A (p.Ala330Thr) c.883G>A (p.Ala295Thr) n.2021G>A c.*444G>A (n.*444G>A) | dbSNP |
| 12 | g.49185379A= | CA2035022331 | TUBA1A | c.987T= (p.Asn329=) c.882T= (p.Asn294=) n.2020T= c.*443T= (n.*443T=) | |
| 12 | g.49185379A>C | CA384637443 | TUBA1A | c.987T>G (p.Asn329Lys) c.882T>G (p.Asn294Lys) n.2020T>G c.*443T>G (n.*443T>G) | |
| 12 | g.49185379A>G | CA479717133 | TUBA1A | c.987T>C (p.Asn329=) c.882T>C (p.Asn294=) n.2020T>C c.*443T>C (n.*443T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185379A>T | CA384637449 | TUBA1A | c.987T>A (p.Asn329Lys) c.882T>A (p.Asn294Lys) n.2020T>A c.*443T>A (n.*443T>A) | |
| 12 | g.49185380T>A | CA384637450 | TUBA1A | c.986A>T (p.Asn329Ile) c.881A>T (p.Asn294Ile) n.2019A>T c.*442A>T (n.*442A>T) | |
| 12 | g.49185380T>C | CA213285 | TUBA1A | c.986A>G (p.Asn329Ser) c.881A>G (p.Asn294Ser) n.2019A>G c.*442A>G (n.*442A>G) | ClinVar dbSNP |
| 12 | g.49185380T>G | CA384637451 | TUBA1A | c.986A>C (p.Asn329Thr) c.881A>C (p.Asn294Thr) n.2019A>C c.*442A>C (n.*442A>C) | |
| 12 | g.49185380T= | CA2035022337 | TUBA1A | c.986A= (p.Asn329=) c.881A= (p.Asn294=) n.2019A= c.*442A= (n.*442A=) | |
| 12 | g.49185381T>A | CA384637455 | TUBA1A | c.985A>T (p.Asn329Tyr) c.880A>T (p.Asn294Tyr) n.2018A>T c.*441A>T (n.*441A>T) | |
| 12 | g.49185381T>C | CA384637459 | TUBA1A | c.985A>G (p.Asn329Asp) c.880A>G (p.Asn294Asp) n.2018A>G c.*441A>G (n.*441A>G) | |
| 12 | g.49185381T>G | CA384637468 | TUBA1A | c.985A>C (p.Asn329His) c.880A>C (p.Asn294His) n.2018A>C c.*441A>C (n.*441A>C) | |
| 12 | g.49185382G>A | CA479717135 | TUBA1A | c.984C>T (p.Val328=) c.879C>T (p.Val293=) n.2017C>T c.*440C>T (n.*440C>T) | |
| 12 | g.49185382G>C | CA479717136 | TUBA1A | c.984C>G (p.Val328=) c.879C>G (p.Val293=) n.2017C>G c.*440C>G (n.*440C>G) | dbSNP |
| 12 | g.49185382G= | CA2035022340 | TUBA1A | c.984C= (p.Val328=) c.879C= (p.Val293=) n.2017C= c.*440C= (n.*440C=) | |
| 12 | g.49185382G>T | CA479717137 | TUBA1A | c.984C>A (p.Val328=) c.879C>A (p.Val293=) n.2017C>A c.*440C>A (n.*440C>A) | |
| 12 | g.49185382_49185383delinsTT | CA2580086335 | TUBA1A | c.983_984delinsAA (p.Val328Glu) c.878_879delinsAA (p.Val293Glu) n.2016_2017delinsAA c.*439_*440delinsAA (n.*439_*440delinsAA) | ClinVar |
| 12 | g.49185383A>C | CA384637474 | TUBA1A | c.983T>G (p.Val328Gly) c.878T>G (p.Val293Gly) n.2016T>G c.*439T>G (n.*439T>G) | |
| 12 | g.49185383A>G | CA384637487 | TUBA1A | c.983T>C (p.Val328Ala) c.878T>C (p.Val293Ala) n.2016T>C c.*439T>C (n.*439T>C) | |
| 12 | g.49185383A>T | CA384637492 | TUBA1A | c.983T>A (p.Val328Asp) c.878T>A (p.Val293Asp) n.2016T>A c.*439T>A (n.*439T>A) | |
| 12 | g.49185384C>A | CA384637494 | TUBA1A | c.982G>T (p.Val328Phe) c.877G>T (p.Val293Phe) n.2015G>T c.*438G>T (n.*438G>T) |