WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36976001T>A | CA359484190 | NIPBL | c.1094T>A (p.Val365Glu) n.714T>A c.1-88577T>A (n.1-88577T>A) c.350T>A (p.Val117Glu) c.434T>A (p.Val145Glu) | |
| 5 | g.36976001T>C | CA359484195 | NIPBL | c.1094T>C (p.Val365Ala) n.714T>C c.1-88577T>C (n.1-88577T>C) c.350T>C (p.Val117Ala) c.434T>C (p.Val145Ala) | |
| 5 | g.36976001T>G | CA359484199 | NIPBL | c.1094T>G (p.Val365Gly) n.714T>G c.1-88577T>G (n.1-88577T>G) c.350T>G (p.Val117Gly) c.434T>G (p.Val145Gly) | |
| 5 | g.36976002A>C | CA444095407 | NIPBL | c.1095A>C (p.Val365=) n.715A>C c.1-88576A>C (n.1-88576A>C) c.351A>C (p.Val117=) c.435A>C (p.Val145=) | |
| 5 | g.36976002A>G | CA444095409 | NIPBL | c.1095A>G (p.Val365=) n.715A>G c.1-88576A>G (n.1-88576A>G) c.351A>G (p.Val117=) c.435A>G (p.Val145=) | gnomAD v4 |
| 5 | g.36976002A>T | CA444095411 | NIPBL | c.1095A>T (p.Val365=) n.715A>T c.1-88576A>T (n.1-88576A>T) c.351A>T (p.Val117=) c.435A>T (p.Val145=) | |
| 5 | g.36976003A>C | CA444095412 | NIPBL | c.1096A>C (p.Arg366=) n.716A>C c.1-88575A>C (n.1-88575A>C) c.352A>C (p.Arg118=) c.436A>C (p.Arg146=) | |
| 5 | g.36976003A>G | CA359484206 | NIPBL | c.1096A>G (p.Arg366Gly) n.716A>G c.1-88575A>G (n.1-88575A>G) c.352A>G (p.Arg118Gly) c.436A>G (p.Arg146Gly) | |
| 5 | g.36976003A>T | CA359484202 | NIPBL | c.1096A>T (p.Arg366Trp) n.716A>T c.1-88575A>T (n.1-88575A>T) c.352A>T (p.Arg118Trp) c.436A>T (p.Arg146Trp) | |
| 5 | g.36976004G>A | CA359484210 | NIPBL | c.1097G>A (p.Arg366Lys) n.717G>A c.1-88574G>A (n.1-88574G>A) c.353G>A (p.Arg118Lys) c.437G>A (p.Arg146Lys) | |
| 5 | g.36976004G>C | CA359484214 | NIPBL | c.1097G>C (p.Arg366Thr) n.717G>C c.1-88574G>C (n.1-88574G>C) c.353G>C (p.Arg118Thr) c.437G>C (p.Arg146Thr) | |
| 5 | g.36976004G>T | CA359484223 | NIPBL | c.1097G>T (p.Arg366Met) n.717G>T c.1-88574G>T (n.1-88574G>T) c.353G>T (p.Arg118Met) c.437G>T (p.Arg146Met) | |
| 5 | g.36976005G>A | CA444095416 | NIPBL | c.1098G>A (p.Arg366=) n.718G>A c.1-88573G>A (n.1-88573G>A) c.354G>A (p.Arg118=) c.438G>A (p.Arg146=) | |
| 5 | g.36976005G>C | CA359484227 | NIPBL | c.1098G>C (p.Arg366Ser) n.718G>C c.1-88573G>C (n.1-88573G>C) c.354G>C (p.Arg118Ser) c.438G>C (p.Arg146Ser) | |
| 5 | g.36976005G>T | CA359484230 | NIPBL | c.1098G>T (p.Arg366Ser) n.718G>T c.1-88573G>T (n.1-88573G>T) c.354G>T (p.Arg118Ser) c.438G>T (p.Arg146Ser) | |
| 5 | g.36976006T>A | CA359484243 | NIPBL | c.1099T>A (p.Ser367Thr) n.719T>A c.1-88572T>A (n.1-88572T>A) c.355T>A (p.Ser119Thr) c.439T>A (p.Ser147Thr) | |
| 5 | g.36976006T>C | CA359484238 | NIPBL | c.1099T>C (p.Ser367Pro) n.719T>C c.1-88572T>C (n.1-88572T>C) c.355T>C (p.Ser119Pro) c.439T>C (p.Ser147Pro) | |
| 5 | g.36976006T>G | CA359484233 | NIPBL | c.1099T>G (p.Ser367Ala) n.719T>G c.1-88572T>G (n.1-88572T>G) c.355T>G (p.Ser119Ala) c.439T>G (p.Ser147Ala) | |
| 5 | g.36976007C>A | CA359484244 | NIPBL | c.1100C>A (p.Ser367Tyr) n.720C>A c.1-88571C>A (n.1-88571C>A) c.356C>A (p.Ser119Tyr) c.440C>A (p.Ser147Tyr) | |
| 5 | g.36976007C>G | CA359484245 | NIPBL | c.1100C>G (p.Ser367Cys) n.720C>G c.1-88571C>G (n.1-88571C>G) c.356C>G (p.Ser119Cys) c.440C>G (p.Ser147Cys) | dbSNP |
| 5 | g.36976007C>T | CA359484246 | NIPBL | c.1100C>T (p.Ser367Phe) n.720C>T c.1-88571C>T (n.1-88571C>T) c.356C>T (p.Ser119Phe) c.440C>T (p.Ser147Phe) | |
| 5 | g.36976008T>A | CA444095424 | NIPBL | c.1101T>A (p.Ser367=) n.721T>A c.1-88570T>A (n.1-88570T>A) c.357T>A (p.Ser119=) c.441T>A (p.Ser147=) | |
| 5 | g.36976008T>C | CA444095425 | NIPBL | c.1101T>C (p.Ser367=) n.721T>C c.1-88570T>C (n.1-88570T>C) c.357T>C (p.Ser119=) c.441T>C (p.Ser147=) | dbSNP |
| 5 | g.36976008T>G | CA444095426 | NIPBL | c.1101T>G (p.Ser367=) n.721T>G c.1-88570T>G (n.1-88570T>G) c.357T>G (p.Ser119=) c.441T>G (p.Ser147=) | dbSNP gnomAD v4 |
| 5 | g.36976008T= | CA1539569219 | NIPBL | c.1101T= (p.Ser367=) n.721T= c.1-88570T= (n.1-88570T=) c.357T= (p.Ser119=) c.441T= (p.Ser147=) | |
| 5 | g.36976009T>A | CA359484251 | NIPBL | c.1102T>A (p.Ser368Thr) n.722T>A c.1-88569T>A (n.1-88569T>A) c.358T>A (p.Ser120Thr) c.442T>A (p.Ser148Thr) | |
| 5 | g.36976009T>C | CA359484253 | NIPBL | c.1102T>C (p.Ser368Pro) n.722T>C c.1-88569T>C (n.1-88569T>C) c.358T>C (p.Ser120Pro) c.442T>C (p.Ser148Pro) | |
| 5 | g.36976009T>G | CA359484256 | NIPBL | c.1102T>G (p.Ser368Ala) n.722T>G c.1-88569T>G (n.1-88569T>G) c.358T>G (p.Ser120Ala) c.442T>G (p.Ser148Ala) | |
| 5 | g.36976010C>A | CA359484261 | NIPBL | c.1103C>A (p.Ser368Ter) n.723C>A c.1-88568C>A (n.1-88568C>A) c.359C>A (p.Ser120Ter) c.443C>A (p.Ser148Ter) | |
| 5 | g.36976010C>G | CA359484257 | NIPBL | c.1103C>G (p.Ser368Ter) n.723C>G c.1-88568C>G (n.1-88568C>G) c.359C>G (p.Ser120Ter) c.443C>G (p.Ser148Ter) | |
| 5 | g.36976010C>T | CA359484259 | NIPBL | c.1103C>T (p.Ser368Leu) n.723C>T c.1-88568C>T (n.1-88568C>T) c.359C>T (p.Ser120Leu) c.443C>T (p.Ser148Leu) | |
| 5 | g.36976011A= | CA1539569223 | NIPBL | c.1104A= (p.Ser368=) n.724A= c.1-88567A= (n.1-88567A=) c.360A= (p.Ser120=) c.444A= (p.Ser148=) | |
| 5 | g.36976011A>C | CA3235981 | NIPBL | c.1104A>C (p.Ser368=) n.724A>C c.1-88567A>C (n.1-88567A>C) c.360A>C (p.Ser120=) c.444A>C (p.Ser148=) | dbSNP ExAC |
| 5 | g.36976011A>G | CA444095433 | NIPBL | c.1104A>G (p.Ser368=) n.724A>G c.1-88567A>G (n.1-88567A>G) c.360A>G (p.Ser120=) c.444A>G (p.Ser148=) | |
| 5 | g.36976011A>T | CA444095434 | NIPBL | c.1104A>T (p.Ser368=) n.724A>T c.1-88567A>T (n.1-88567A>T) c.360A>T (p.Ser120=) c.444A>T (p.Ser148=) | |
| 5 | g.36976012G>A | CA359484266 | NIPBL | c.1105G>A (p.Asp369Asn) n.725G>A c.1-88566G>A (n.1-88566G>A) c.361G>A (p.Asp121Asn) c.445G>A (p.Asp149Asn) | COSMIC COSMIC |
| 5 | g.36976012G>C | CA359484269 | NIPBL | c.1105G>C (p.Asp369His) n.725G>C c.1-88566G>C (n.1-88566G>C) c.361G>C (p.Asp121His) c.445G>C (p.Asp149His) | gnomAD v4 |
| 5 | g.36976012G>T | CA359484272 | NIPBL | c.1105G>T (p.Asp369Tyr) n.725G>T c.1-88566G>T (n.1-88566G>T) c.361G>T (p.Asp121Tyr) c.445G>T (p.Asp149Tyr) | |
| 5 | g.36976013A= | CA1539569225 | NIPBL | c.1106A= (p.Asp369=) n.726A= c.1-88565A= (n.1-88565A=) c.362A= (p.Asp121=) c.446A= (p.Asp149=) | |
| 5 | g.36976013A>C | CA359484283 | NIPBL | c.1106A>C (p.Asp369Ala) n.726A>C c.1-88565A>C (n.1-88565A>C) c.362A>C (p.Asp121Ala) c.446A>C (p.Asp149Ala) | |
| 5 | g.36976013A>G | CA359484287 | NIPBL | c.1106A>G (p.Asp369Gly) n.726A>G c.1-88565A>G (n.1-88565A>G) c.362A>G (p.Asp121Gly) c.446A>G (p.Asp149Gly) | dbSNP gnomAD v4 |
| 5 | g.36976013A>T | CA359484293 | NIPBL | c.1106A>T (p.Asp369Val) n.726A>T c.1-88565A>T (n.1-88565A>T) c.362A>T (p.Asp121Val) c.446A>T (p.Asp149Val) | |
| 5 | g.36976014C>A | CA359484302 | NIPBL | c.1107C>A (p.Asp369Glu) n.727C>A c.1-88564C>A (n.1-88564C>A) c.363C>A (p.Asp121Glu) c.447C>A (p.Asp149Glu) | |
| 5 | g.36976014C= | CA1539569230 | NIPBL | c.1107C= (p.Asp369=) n.727C= c.1-88564C= (n.1-88564C=) c.363C= (p.Asp121=) c.447C= (p.Asp149=) | |
| 5 | g.36976014C>G | CA359484310 | NIPBL | c.1107C>G (p.Asp369Glu) n.727C>G c.1-88564C>G (n.1-88564C>G) c.363C>G (p.Asp121Glu) c.447C>G (p.Asp149Glu) | |
| 5 | g.36976014C>T | CA3235982 | NIPBL | c.1107C>T (p.Asp369=) n.727C>T c.1-88564C>T (n.1-88564C>T) c.363C>T (p.Asp121=) c.447C>T (p.Asp149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.36976015A= | CA1539569234 | NIPBL | c.1108A= (p.Met370=) n.728A= c.1-88563A= (n.1-88563A=) c.364A= (p.Met122=) c.448A= (p.Met150=) | |
| 5 | g.36976015A>C | CA359484319 | NIPBL | c.1108A>C (p.Met370Leu) n.728A>C c.1-88563A>C (n.1-88563A>C) c.364A>C (p.Met122Leu) c.448A>C (p.Met150Leu) | |
| 5 | g.36976015A>G | CA3235983 | NIPBL | c.1108A>G (p.Met370Val) n.728A>G c.1-88563A>G (n.1-88563A>G) c.364A>G (p.Met122Val) c.448A>G (p.Met150Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.36976015A>T | CA359484325 | NIPBL | c.1108A>T (p.Met370Leu) n.728A>T c.1-88563A>T (n.1-88563A>T) c.364A>T (p.Met122Leu) c.448A>T (p.Met150Leu) |