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 |
|---|---|---|---|---|---|
| 4 | g.134200566T>A | CA358375020 | PABPC4L | c.454A>T (p.Arg152Trp) c.628A>T (p.Arg210Trp) n.993A>T n.988A>T | COSMIC COSMIC |
| 4 | g.134200566T>C | CA3081071 | PABPC4L | c.454A>G (p.Arg152Gly) c.628A>G (p.Arg210Gly) n.993A>G n.988A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200566T>G | CA441360959 | PABPC4L | c.454A>C (p.Arg152=) c.628A>C (p.Arg210=) n.993A>C n.988A>C | |
| 4 | g.134200566T= | CA1495814742 | PABPC4L | c.454A= (p.Arg152=) c.628A= (p.Arg210=) n.993A= n.988A= | |
| 4 | g.134200567G>A | CA441360960 | PABPC4L | c.453C>T (p.Asp151=) c.627C>T (p.Asp209=) n.992C>T n.987C>T | |
| 4 | g.134200567G>C | CA358375022 | PABPC4L | c.453C>G (p.Asp151Glu) c.627C>G (p.Asp209Glu) n.992C>G n.987C>G | |
| 4 | g.134200567G>T | CA358375021 | PABPC4L | c.453C>A (p.Asp151Glu) c.627C>A (p.Asp209Glu) n.992C>A n.987C>A | |
| 4 | g.134200568T>A | CA358375023 | PABPC4L | c.452A>T (p.Asp151Val) c.626A>T (p.Asp209Val) n.991A>T n.986A>T | |
| 4 | g.134200568T>C | CA358375024 | PABPC4L | c.452A>G (p.Asp151Gly) c.626A>G (p.Asp209Gly) n.991A>G n.986A>G | |
| 4 | g.134200568T>G | CA358375025 | PABPC4L | c.452A>C (p.Asp151Ala) c.626A>C (p.Asp209Ala) n.991A>C n.986A>C | |
| 4 | g.134200569C>A | CA358375026 | PABPC4L | c.451G>T (p.Asp151Tyr) c.625G>T (p.Asp209Tyr) n.990G>T n.985G>T | |
| 4 | g.134200569C= | CA1495814743 | PABPC4L | c.451G= (p.Asp151=) c.625G= (p.Asp209=) n.990G= n.985G= | |
| 4 | g.134200569C>G | CA358375027 | PABPC4L | c.451G>C (p.Asp151His) c.625G>C (p.Asp209His) n.990G>C n.985G>C | gnomAD v4 |
| 4 | g.134200569C>T | CA106325786 | PABPC4L | c.451G>A (p.Asp151Asn) c.625G>A (p.Asp209Asn) n.990G>A n.985G>A | dbSNP |
| 4 | g.134200570T>A | CA441360961 | PABPC4L | c.450A>T (p.Ala150=) c.624A>T (p.Ala208=) n.989A>T n.984A>T | |
| 4 | g.134200570T>C | CA441360962 | PABPC4L | c.450A>G (p.Ala150=) c.624A>G (p.Ala208=) n.989A>G n.984A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.134200570T>G | CA441360963 | PABPC4L | c.450A>C (p.Ala150=) c.624A>C (p.Ala208=) n.989A>C n.984A>C | |
| 4 | g.134200570T= | CA1495814744 | PABPC4L | c.450A= (p.Ala150=) c.624A= (p.Ala208=) n.989A= n.984A= | |
| 4 | g.134200570dup | CA2672091047 | PABPC4L | c.450dup (p.Asp151ArgfsTer5) c.624dup (p.Asp209ArgfsTer5) n.989dup n.984dup | gnomAD v4 |
| 4 | g.134200571G>A | CA358375028 | PABPC4L | c.449C>T (p.Ala150Val) c.623C>T (p.Ala208Val) n.988C>T n.983C>T | gnomAD v4 |
| 4 | g.134200571G>C | CA358375030 | PABPC4L | c.449C>G (p.Ala150Gly) c.623C>G (p.Ala208Gly) n.988C>G n.983C>G | |
| 4 | g.134200571G>T | CA358375029 | PABPC4L | c.449C>A (p.Ala150Glu) c.623C>A (p.Ala208Glu) n.988C>A n.983C>A | |
| 4 | g.134200572C>A | CA358375031 | PABPC4L | c.448G>T (p.Ala150Ser) c.622G>T (p.Ala208Ser) n.987G>T n.982G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.134200572C= | CA1495814752 | PABPC4L | c.448G= (p.Ala150=) c.622G= (p.Ala208=) n.987G= n.982G= | |
| 4 | g.134200572C>G | CA358375032 | PABPC4L | c.448G>C (p.Ala150Pro) c.622G>C (p.Ala208Pro) n.987G>C n.982G>C | |
| 4 | g.134200572C>T | CA358375033 | PABPC4L | c.448G>A (p.Ala150Thr) c.622G>A (p.Ala208Thr) n.987G>A n.982G>A | |
| 4 | g.134200573A= | CA1495814754 | PABPC4L | c.447T= (p.Ala149=) c.621T= (p.Ala207=) n.986T= n.981T= | |
| 4 | g.134200573A>C | CA441360964 | PABPC4L | c.447T>G (p.Ala149=) c.621T>G (p.Ala207=) n.986T>G n.981T>G | |
| 4 | g.134200573A>G | CA441360965 | PABPC4L | c.447T>C (p.Ala149=) c.621T>C (p.Ala207=) n.986T>C n.981T>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.134200573A>T | CA441360966 | PABPC4L | c.447T>A (p.Ala149=) c.621T>A (p.Ala207=) n.986T>A n.981T>A | |
| 4 | g.134200574G>A | CA3081072 | PABPC4L | c.446C>T (p.Ala149Val) c.620C>T (p.Ala207Val) n.985C>T n.980C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200574G>C | CA358375034 | PABPC4L | c.446C>G (p.Ala149Gly) c.620C>G (p.Ala207Gly) n.985C>G n.980C>G | |
| 4 | g.134200574G= | CA1495814755 | PABPC4L | c.446C= (p.Ala149=) c.620C= (p.Ala207=) n.985C= n.980C= | |
| 4 | g.134200574G>T | CA358375035 | PABPC4L | c.446C>A (p.Ala149Asp) c.620C>A (p.Ala207Asp) n.985C>A n.980C>A | COSMIC COSMIC |
| 4 | g.134200575C>A | CA358375036 | PABPC4L | c.445G>T (p.Ala149Ser) c.619G>T (p.Ala207Ser) n.984G>T n.979G>T | |
| 4 | g.134200575C>G | CA358375037 | PABPC4L | c.445G>C (p.Ala149Pro) c.619G>C (p.Ala207Pro) n.984G>C n.979G>C | |
| 4 | g.134200575C>T | CA358375038 | PABPC4L | c.445G>A (p.Ala149Thr) c.619G>A (p.Ala207Thr) n.984G>A n.979G>A | gnomAD v4 |
| 4 | g.134200576A>C | CA358375039 | PABPC4L | c.444T>G (p.Ser148Arg) c.618T>G (p.Ser206Arg) n.983T>G n.978T>G | |
| 4 | g.134200576A>G | CA441360967 | PABPC4L | c.444T>C (p.Ser148=) c.618T>C (p.Ser206=) n.983T>C n.978T>C | |
| 4 | g.134200576A>T | CA358375040 | PABPC4L | c.444T>A (p.Ser148Arg) c.618T>A (p.Ser206Arg) n.983T>A n.978T>A | |
| 4 | g.134200577C>A | CA358375041 | PABPC4L | c.443G>T (p.Ser148Ile) c.617G>T (p.Ser206Ile) n.982G>T n.977G>T | |
| 4 | g.134200577C= | CA1495814758 | PABPC4L | c.443G= (p.Ser148=) c.617G= (p.Ser206=) n.982G= n.977G= | |
| 4 | g.134200577C>G | CA358375043 | PABPC4L | c.443G>C (p.Ser148Thr) c.617G>C (p.Ser206Thr) n.982G>C n.977G>C | |
| 4 | g.134200577C>T | CA358375042 | PABPC4L | c.443G>A (p.Ser148Asn) c.617G>A (p.Ser206Asn) n.982G>A n.977G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.134200578T>A | CA358375044 | PABPC4L | c.442A>T (p.Ser148Cys) c.616A>T (p.Ser206Cys) n.981A>T n.976A>T | |
| 4 | g.134200578T>C | CA358375045 | PABPC4L | c.442A>G (p.Ser148Gly) c.616A>G (p.Ser206Gly) n.981A>G n.976A>G | |
| 4 | g.134200578T>G | CA358375046 | PABPC4L | c.442A>C (p.Ser148Arg) c.616A>C (p.Ser206Arg) n.981A>C n.976A>C | |
| 4 | g.134200579C>A | CA358375047 | PABPC4L | c.441G>T (p.Gln147His) c.615G>T (p.Gln205His) n.980G>T n.975G>T | |
| 4 | g.134200579C>G | CA358375048 | PABPC4L | c.441G>C (p.Gln147His) c.615G>C (p.Gln205His) n.980G>C n.975G>C | |
| 4 | g.134200579C>T | CA441360969 | PABPC4L | c.441G>A (p.Gln147=) c.615G>A (p.Gln205=) n.980G>A n.975G>A | gnomAD v4 |