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 |
|---|---|---|---|---|---|
| 14 | g.64767829G>A | CA390039528 | SPTB | c.6053C>T (p.Ala2018Val) n.385C>T c.2048C>T (p.Ala683Val) | gnomAD v4 |
| 14 | g.64767829G>C | CA122738 | SPTB | c.6053C>G (p.Ala2018Gly) n.385C>G c.2048C>G (p.Ala683Gly) | ClinVar dbSNP |
| 14 | g.64767829G= | CA2142797697 | SPTB | c.6053C= (p.Ala2018=) n.385C= c.2048C= (p.Ala683=) | |
| 14 | g.64767829G>T | CA390039527 | SPTB | c.6053C>A (p.Ala2018Asp) n.385C>A c.2048C>A (p.Ala683Asp) | ClinVar dbSNP |
| 14 | g.64767830C>A | CA390039529 | SPTB | c.6052G>T (p.Ala2018Ser) n.384G>T c.2047G>T (p.Ala683Ser) | |
| 14 | g.64767830C>G | CA390039530 | SPTB | c.6052G>C (p.Ala2018Pro) n.384G>C c.2047G>C (p.Ala683Pro) | |
| 14 | g.64767830C>T | CA390039531 | SPTB | c.6052G>A (p.Ala2018Thr) n.384G>A c.2047G>A (p.Ala683Thr) | |
| 14 | g.64767831A>C | CA390039532 | SPTB | c.6051T>G (p.Asp2017Glu) n.383T>G c.2046T>G (p.Asp682Glu) | |
| 14 | g.64767831A>G | CA486735154 | SPTB | c.6051T>C (p.Asp2017=) n.383T>C c.2046T>C (p.Asp682=) | |
| 14 | g.64767831A>T | CA390039533 | SPTB | c.6051T>A (p.Asp2017Glu) n.383T>A c.2046T>A (p.Asp682Glu) | |
| 14 | g.64767832T>A | CA390039534 | SPTB | c.6050A>T (p.Asp2017Val) n.382A>T c.2045A>T (p.Asp682Val) | |
| 14 | g.64767832T>C | CA390039535 | SPTB | c.6050A>G (p.Asp2017Gly) n.382A>G c.2045A>G (p.Asp682Gly) | |
| 14 | g.64767832T>G | CA390039536 | SPTB | c.6050A>C (p.Asp2017Ala) n.382A>C c.2045A>C (p.Asp682Ala) | |
| 14 | g.64767833C>A | CA390039537 | SPTB | c.6049G>T (p.Asp2017Tyr) n.381G>T c.2044G>T (p.Asp682Tyr) | |
| 14 | g.64767833C= | CA2142797700 | SPTB | c.6049G= (p.Asp2017=) n.381G= c.2044G= (p.Asp682=) | |
| 14 | g.64767833C>G | CA390039538 | SPTB | c.6049G>C (p.Asp2017His) n.381G>C c.2044G>C (p.Asp682His) | |
| 14 | g.64767833C>T | CA7229763 | SPTB | c.6049G>A (p.Asp2017Asn) n.381G>A c.2044G>A (p.Asp682Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767834C>A | CA390039539 | SPTB | c.6048G>T (p.Arg2016Ser) n.380G>T c.2043G>T (p.Arg681Ser) | |
| 14 | g.64767834C>G | CA390039540 | SPTB | c.6048G>C (p.Arg2016Ser) n.380G>C c.2043G>C (p.Arg681Ser) | |
| 14 | g.64767834C>T | CA486735155 | SPTB | c.6048G>A (p.Arg2016=) n.380G>A c.2043G>A (p.Arg681=) | |
| 14 | g.64767835C>A | CA390039542 | SPTB | c.6047G>T (p.Arg2016Met) n.379G>T c.2042G>T (p.Arg681Met) | |
| 14 | g.64767835C>G | CA390039543 | SPTB | c.6047G>C (p.Arg2016Thr) n.379G>C c.2042G>C (p.Arg681Thr) | |
| 14 | g.64767835C>T | CA390039541 | SPTB | c.6047G>A (p.Arg2016Lys) n.379G>A c.2042G>A (p.Arg681Lys) | gnomAD v4 |
| 14 | g.64767836T>A | CA390039545 | SPTB | c.6046A>T (p.Arg2016Trp) n.378A>T c.2041A>T (p.Arg681Trp) | |
| 14 | g.64767836T>C | CA390039544 | SPTB | c.6046A>G (p.Arg2016Gly) n.378A>G c.2041A>G (p.Arg681Gly) | |
| 14 | g.64767836T>G | CA486735156 | SPTB | c.6046A>C (p.Arg2016=) n.378A>C c.2041A>C (p.Arg681=) | |
| 14 | g.64767837C>A | CA486735157 | SPTB | c.6045G>T (p.Ser2015=) n.377G>T c.2040G>T (p.Ser680=) | |
| 14 | g.64767837C= | CA2142797702 | SPTB | c.6045G= (p.Ser2015=) n.377G= c.2040G= (p.Ser680=) | |
| 14 | g.64767837C>G | CA486735158 | SPTB | c.6045G>C (p.Ser2015=) n.377G>C c.2040G>C (p.Ser680=) | |
| 14 | g.64767837C>T | CA7229764 | SPTB | c.6045G>A (p.Ser2015=) n.377G>A c.2040G>A (p.Ser680=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767838G>A | CA7229765 | SPTB | c.6044C>T (p.Ser2015Leu) n.376C>T c.2039C>T (p.Ser680Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767838G>C | CA390039546 | SPTB | c.6044C>G (p.Ser2015Trp) n.376C>G c.2039C>G (p.Ser680Trp) | |
| 14 | g.64767838G= | CA2142797704 | SPTB | c.6044C= (p.Ser2015=) n.376C= c.2039C= (p.Ser680=) | |
| 14 | g.64767838G>T | CA390039547 | SPTB | c.6044C>A (p.Ser2015Ter) n.376C>A c.2039C>A (p.Ser680Ter) | |
| 14 | g.64767839A>C | CA390039548 | SPTB | c.6043T>G (p.Ser2015Ala) n.375T>G c.2038T>G (p.Ser680Ala) | |
| 14 | g.64767839A>G | CA390039549 | SPTB | c.6043T>C (p.Ser2015Pro) n.375T>C c.2038T>C (p.Ser680Pro) | |
| 14 | g.64767839A>T | CA390039550 | SPTB | c.6043T>A (p.Ser2015Thr) n.375T>A c.2038T>A (p.Ser680Thr) | |
| 14 | g.64767840G>A | CA486735159 | SPTB | c.6042C>T (p.Phe2014=) n.374C>T c.2037C>T (p.Phe679=) | gnomAD v4 |
| 14 | g.64767840G>C | CA390039551 | SPTB | c.6042C>G (p.Phe2014Leu) n.374C>G c.2037C>G (p.Phe679Leu) | |
| 14 | g.64767840G>T | CA390039552 | SPTB | c.6042C>A (p.Phe2014Leu) n.374C>A c.2037C>A (p.Phe679Leu) | COSMIC COSMIC |
| 14 | g.64767841A= | CA2142797707 | SPTB | c.6041T= (p.Phe2014=) n.373T= c.2036T= (p.Phe679=) | |
| 14 | g.64767841A>C | CA390039553 | SPTB | c.6041T>G (p.Phe2014Cys) n.373T>G c.2036T>G (p.Phe679Cys) | ClinVar dbSNP |
| 14 | g.64767841A>G | CA390039554 | SPTB | c.6041T>C (p.Phe2014Ser) n.373T>C c.2036T>C (p.Phe679Ser) | |
| 14 | g.64767841A>T | CA390039555 | SPTB | c.6041T>A (p.Phe2014Tyr) n.373T>A c.2036T>A (p.Phe679Tyr) | |
| 14 | g.64767842A>C | CA390039556 | SPTB | c.6040T>G (p.Phe2014Val) n.372T>G c.2035T>G (p.Phe679Val) | |
| 14 | g.64767842A>G | CA390039557 | SPTB | c.6040T>C (p.Phe2014Leu) n.372T>C c.2035T>C (p.Phe679Leu) | |
| 14 | g.64767842A>T | CA390039558 | SPTB | c.6040T>A (p.Phe2014Ile) n.372T>A c.2035T>A (p.Phe679Ile) | |
| 14 | g.64767843C>A | CA390039560 | SPTB | c.6039G>T (p.Gln2013His) n.371G>T c.2034G>T (p.Gln678His) | |
| 14 | g.64767843C= | CA2142797711 | SPTB | c.6039G= (p.Gln2013=) n.371G= c.2034G= (p.Gln678=) | |
| 14 | g.64767843C>G | CA390039559 | SPTB | c.6039G>C (p.Gln2013His) n.371G>C c.2034G>C (p.Gln678His) | dbSNP gnomAD v2 gnomAD v4 |