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 |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.36976016T>A | CA359484331 | NIPBL | c.1109T>A (p.Met370Lys) n.729T>A c.1-88562T>A (n.1-88562T>A) c.365T>A (p.Met122Lys) c.449T>A (p.Met150Lys) | |
| 5 | g.36976016T>C | CA359484338 | NIPBL | c.1109T>C (p.Met370Thr) n.729T>C c.1-88562T>C (n.1-88562T>C) c.365T>C (p.Met122Thr) c.449T>C (p.Met150Thr) | |
| 5 | g.36976016T>G | CA359484336 | NIPBL | c.1109T>G (p.Met370Arg) n.729T>G c.1-88562T>G (n.1-88562T>G) c.365T>G (p.Met122Arg) c.449T>G (p.Met150Arg) | |
| 5 | g.36976017G>A | CA359484345 | NIPBL | c.1110G>A (p.Met370Ile) n.730G>A c.1-88561G>A (n.1-88561G>A) c.366G>A (p.Met122Ile) c.450G>A (p.Met150Ile) | |
| 5 | g.36976017G>C | CA359484353 | NIPBL | c.1110G>C (p.Met370Ile) n.730G>C c.1-88561G>C (n.1-88561G>C) c.366G>C (p.Met122Ile) c.450G>C (p.Met150Ile) | |
| 5 | g.36976017G>T | CA359484355 | NIPBL | c.1110G>T (p.Met370Ile) n.730G>T c.1-88561G>T (n.1-88561G>T) c.366G>T (p.Met122Ile) c.450G>T (p.Met150Ile) | |
| 5 | g.36976018G>A | CA3235984 | NIPBL | c.1111G>A (p.Asp371Asn) n.731G>A c.1-88560G>A (n.1-88560G>A) c.367G>A (p.Asp123Asn) c.451G>A (p.Asp151Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36976018G>C | CA359484359 | NIPBL | c.1111G>C (p.Asp371His) n.731G>C c.1-88560G>C (n.1-88560G>C) c.367G>C (p.Asp123His) c.451G>C (p.Asp151His) | |
| 5 | g.36976018G= | CA1539569238 | NIPBL | c.1111G= (p.Asp371=) n.731G= c.1-88560G= (n.1-88560G=) c.367G= (p.Asp123=) c.451G= (p.Asp151=) | |
| 5 | g.36976018G>T | CA359484363 | NIPBL | c.1111G>T (p.Asp371Tyr) n.731G>T c.1-88560G>T (n.1-88560G>T) c.367G>T (p.Asp123Tyr) c.451G>T (p.Asp151Tyr) | |
| 5 | g.36976019A>C | CA359484376 | NIPBL | c.1112A>C (p.Asp371Ala) n.732A>C c.1-88559A>C (n.1-88559A>C) c.368A>C (p.Asp123Ala) c.452A>C (p.Asp151Ala) | |
| 5 | g.36976019A>G | CA359484372 | NIPBL | c.1112A>G (p.Asp371Gly) n.732A>G c.1-88559A>G (n.1-88559A>G) c.368A>G (p.Asp123Gly) c.452A>G (p.Asp151Gly) | |
| 5 | g.36976019A>T | CA359484373 | NIPBL | c.1112A>T (p.Asp371Val) n.732A>T c.1-88559A>T (n.1-88559A>T) c.368A>T (p.Asp123Val) c.452A>T (p.Asp151Val) | |
| 5 | g.36976020C>A | CA359484377 | NIPBL | c.1113C>A (p.Asp371Glu) n.733C>A c.1-88558C>A (n.1-88558C>A) c.369C>A (p.Asp123Glu) c.453C>A (p.Asp151Glu) | |
| 5 | g.36976020C>G | CA359484378 | NIPBL | c.1113C>G (p.Asp371Glu) n.733C>G c.1-88558C>G (n.1-88558C>G) c.369C>G (p.Asp123Glu) c.453C>G (p.Asp151Glu) |