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 |
|---|---|---|---|---|---|
| 15 | g.58010701A= | CA2180114102 | ALDH1A2 | c.441T= (p.Phe147=) c.*415T= (n.*415T=) c.378T= (p.Phe126=) c.354T= (p.Phe118=) n.318+3157T= c.153T= (p.Phe51=) | |
| 15 | g.58010701A>C | CA392790094 | ALDH1A2 | c.441T>G (p.Phe147Leu) c.*415T>G (n.*415T>G) c.378T>G (p.Phe126Leu) c.354T>G (p.Phe118Leu) n.318+3157T>G c.153T>G (p.Phe51Leu) | dbSNP gnomAD v2 |
| 15 | g.58010701A>G | CA490587264 | ALDH1A2 | c.441T>C (p.Phe147=) c.*415T>C (n.*415T>C) c.378T>C (p.Phe126=) c.354T>C (p.Phe118=) n.318+3157T>C c.153T>C (p.Phe51=) | gnomAD v4 |
| 15 | g.58010701A>T | CA392790093 | ALDH1A2 | c.441T>A (p.Phe147Leu) c.*415T>A (n.*415T>A) c.378T>A (p.Phe126Leu) c.354T>A (p.Phe118Leu) n.318+3157T>A c.153T>A (p.Phe51Leu) | |
| 15 | g.58010702A>C | CA392790096 | ALDH1A2 | c.440T>G (p.Phe147Cys) c.*414T>G (n.*414T>G) c.377T>G (p.Phe126Cys) c.353T>G (p.Phe118Cys) n.318+3156T>G c.152T>G (p.Phe51Cys) | |
| 15 | g.58010702A>G | CA392790098 | ALDH1A2 | c.440T>C (p.Phe147Ser) c.*414T>C (n.*414T>C) c.377T>C (p.Phe126Ser) c.353T>C (p.Phe118Ser) n.318+3156T>C c.152T>C (p.Phe51Ser) | |
| 15 | g.58010702A>T | CA392790100 | ALDH1A2 | c.440T>A (p.Phe147Tyr) c.*414T>A (n.*414T>A) c.377T>A (p.Phe126Tyr) c.353T>A (p.Phe118Tyr) n.318+3156T>A c.152T>A (p.Phe51Tyr) | |
| 15 | g.58010703A>C | CA392790104 | ALDH1A2 | c.439T>G (p.Phe147Val) c.*413T>G (n.*413T>G) c.376T>G (p.Phe126Val) c.352T>G (p.Phe118Val) n.318+3155T>G c.151T>G (p.Phe51Val) | |
| 15 | g.58010703A>G | CA392790105 | ALDH1A2 | c.439T>C (p.Phe147Leu) c.*413T>C (n.*413T>C) c.376T>C (p.Phe126Leu) c.352T>C (p.Phe118Leu) n.318+3155T>C c.151T>C (p.Phe51Leu) | dbSNP gnomAD v4 |
| 15 | g.58010703A>T | CA392790108 | ALDH1A2 | c.439T>A (p.Phe147Ile) c.*413T>A (n.*413T>A) c.376T>A (p.Phe126Ile) c.352T>A (p.Phe118Ile) n.318+3155T>A c.151T>A (p.Phe51Ile) | dbSNP |
| 15 | g.58010704G>A | CA490587265 | ALDH1A2 | c.438C>T (p.Thr146=) c.*412C>T (n.*412C>T) c.375C>T (p.Thr125=) c.351C>T (p.Thr117=) n.318+3154C>T c.150C>T (p.Thr50=) | |
| 15 | g.58010704G>C | CA490587266 | ALDH1A2 | c.438C>G (p.Thr146=) c.*412C>G (n.*412C>G) c.375C>G (p.Thr125=) c.351C>G (p.Thr117=) n.318+3154C>G c.150C>G (p.Thr50=) | |
| 15 | g.58010704G>T | CA490587267 | ALDH1A2 | c.438C>A (p.Thr146=) c.*412C>A (n.*412C>A) c.375C>A (p.Thr125=) c.351C>A (p.Thr117=) n.318+3154C>A c.150C>A (p.Thr50=) | |
| 15 | g.58010705G>A | CA392790115 | ALDH1A2 | c.437C>T (p.Thr146Ile) c.*411C>T (n.*411C>T) c.374C>T (p.Thr125Ile) c.350C>T (p.Thr117Ile) n.318+3153C>T c.149C>T (p.Thr50Ile) | dbSNP gnomAD v2 |
| 15 | g.58010705G>C | CA392790111 | ALDH1A2 | c.437C>G (p.Thr146Ser) c.*411C>G (n.*411C>G) c.374C>G (p.Thr125Ser) c.350C>G (p.Thr117Ser) n.318+3153C>G c.149C>G (p.Thr50Ser) | |
| 15 | g.58010705G= | CA2180114106 | ALDH1A2 | c.437C= (p.Thr146=) c.*411C= (n.*411C=) c.374C= (p.Thr125=) c.350C= (p.Thr117=) n.318+3153C= c.149C= (p.Thr50=) | |
| 15 | g.58010705G>T | CA392790113 | ALDH1A2 | c.437C>A (p.Thr146Asn) c.*411C>A (n.*411C>A) c.374C>A (p.Thr125Asn) c.350C>A (p.Thr117Asn) n.318+3153C>A c.149C>A (p.Thr50Asn) | |
| 15 | g.58010706T>A | CA392790118 | ALDH1A2 | c.436A>T (p.Thr146Ser) c.*410A>T (n.*410A>T) c.373A>T (p.Thr125Ser) c.349A>T (p.Thr117Ser) n.318+3152A>T c.148A>T (p.Thr50Ser) | |
| 15 | g.58010706T>C | CA392790120 | ALDH1A2 | c.436A>G (p.Thr146Ala) c.*410A>G (n.*410A>G) c.373A>G (p.Thr125Ala) c.349A>G (p.Thr117Ala) n.318+3152A>G c.148A>G (p.Thr50Ala) | |
| 15 | g.58010706T>G | CA392790122 | ALDH1A2 | c.436A>C (p.Thr146Pro) c.*410A>C (n.*410A>C) c.373A>C (p.Thr125Pro) c.349A>C (p.Thr117Pro) n.318+3152A>C c.148A>C (p.Thr50Pro) | |
| 15 | g.58010707T>A | CA392790124 | ALDH1A2 | c.435A>T (p.Lys145Asn) c.*409A>T (n.*409A>T) c.372A>T (p.Lys124Asn) c.348A>T (p.Lys116Asn) n.318+3151A>T c.147A>T (p.Lys49Asn) | |
| 15 | g.58010707T>C | CA490587268 | ALDH1A2 | c.435A>G (p.Lys145=) c.*409A>G (n.*409A>G) c.372A>G (p.Lys124=) c.348A>G (p.Lys116=) n.318+3151A>G c.147A>G (p.Lys49=) | |
| 15 | g.58010707T>G | CA392790127 | ALDH1A2 | c.435A>C (p.Lys145Asn) c.*409A>C (n.*409A>C) c.372A>C (p.Lys124Asn) c.348A>C (p.Lys116Asn) n.318+3151A>C c.147A>C (p.Lys49Asn) | |
| 15 | g.58010708T>A | CA392790129 | ALDH1A2 | c.434A>T (p.Lys145Ile) c.*408A>T (n.*408A>T) c.371A>T (p.Lys124Ile) c.347A>T (p.Lys116Ile) n.318+3150A>T c.146A>T (p.Lys49Ile) | COSMIC |
| 15 | g.58010708T>C | CA392790134 | ALDH1A2 | c.434A>G (p.Lys145Arg) c.*408A>G (n.*408A>G) c.371A>G (p.Lys124Arg) c.347A>G (p.Lys116Arg) n.318+3150A>G c.146A>G (p.Lys49Arg) | |
| 15 | g.58010708T>G | CA392790132 | ALDH1A2 | c.434A>C (p.Lys145Thr) c.*408A>C (n.*408A>C) c.371A>C (p.Lys124Thr) c.347A>C (p.Lys116Thr) n.318+3150A>C c.146A>C (p.Lys49Thr) | |
| 15 | g.58010709T>A | CA392790138 | ALDH1A2 | c.433A>T (p.Lys145Ter) c.*407A>T (n.*407A>T) c.370A>T (p.Lys124Ter) c.346A>T (p.Lys116Ter) n.318+3149A>T c.145A>T (p.Lys49Ter) | |
| 15 | g.58010709T>C | CA392790139 | ALDH1A2 | c.433A>G (p.Lys145Glu) c.*407A>G (n.*407A>G) c.370A>G (p.Lys124Glu) c.346A>G (p.Lys116Glu) n.318+3149A>G c.145A>G (p.Lys49Glu) | |
| 15 | g.58010709T>G | CA392790142 | ALDH1A2 | c.433A>C (p.Lys145Gln) c.*407A>C (n.*407A>C) c.370A>C (p.Lys124Gln) c.346A>C (p.Lys116Gln) n.318+3149A>C c.145A>C (p.Lys49Gln) | |
| 15 | g.58010710G>A | CA490587269 | ALDH1A2 | c.432C>T (p.Ile144=) c.*406C>T (n.*406C>T) c.369C>T (p.Ile123=) c.345C>T (p.Ile115=) n.318+3148C>T c.144C>T (p.Ile48=) | |
| 15 | g.58010710G>C | CA392790144 | ALDH1A2 | c.432C>G (p.Ile144Met) c.*406C>G (n.*406C>G) c.369C>G (p.Ile123Met) c.345C>G (p.Ile115Met) n.318+3148C>G c.144C>G (p.Ile48Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010710G= | CA2180114109 | ALDH1A2 | c.432C= (p.Ile144=) c.*406C= (n.*406C=) c.369C= (p.Ile123=) c.345C= (p.Ile115=) n.318+3148C= c.144C= (p.Ile48=) | |
| 15 | g.58010710G>T | CA490587270 | ALDH1A2 | c.432C>A (p.Ile144=) c.*406C>A (n.*406C>A) c.369C>A (p.Ile123=) c.345C>A (p.Ile115=) n.318+3148C>A c.144C>A (p.Ile48=) | |
| 15 | g.58010711A>C | CA392790145 | ALDH1A2 | c.431T>G (p.Ile144Ser) c.*405T>G (n.*405T>G) c.368T>G (p.Ile123Ser) c.344T>G (p.Ile115Ser) n.318+3147T>G c.143T>G (p.Ile48Ser) | |
| 15 | g.58010711A>G | CA392790146 | ALDH1A2 | c.431T>C (p.Ile144Thr) c.*405T>C (n.*405T>C) c.368T>C (p.Ile123Thr) c.344T>C (p.Ile115Thr) n.318+3147T>C c.143T>C (p.Ile48Thr) | |
| 15 | g.58010711A>T | CA392790147 | ALDH1A2 | c.431T>A (p.Ile144Asn) c.*405T>A (n.*405T>A) c.368T>A (p.Ile123Asn) c.344T>A (p.Ile115Asn) n.318+3147T>A c.143T>A (p.Ile48Asn) | |
| 15 | g.58010712T>A | CA392790148 | ALDH1A2 | c.430A>T (p.Ile144Phe) c.*404A>T (n.*404A>T) c.367A>T (p.Ile123Phe) c.343A>T (p.Ile115Phe) n.318+3146A>T c.142A>T (p.Ile48Phe) | |
| 15 | g.58010712T>C | CA392790149 | ALDH1A2 | c.430A>G (p.Ile144Val) c.*404A>G (n.*404A>G) c.367A>G (p.Ile123Val) c.343A>G (p.Ile115Val) n.318+3146A>G c.142A>G (p.Ile48Val) | dbSNP gnomAD v2 |
| 15 | g.58010712T>G | CA392790150 | ALDH1A2 | c.430A>C (p.Ile144Leu) c.*404A>C (n.*404A>C) c.367A>C (p.Ile123Leu) c.343A>C (p.Ile115Leu) n.318+3146A>C c.142A>C (p.Ile48Leu) | gnomAD v4 |
| 15 | g.58010712T= | CA2180114113 | ALDH1A2 | c.430A= (p.Ile144=) c.*404A= (n.*404A=) c.367A= (p.Ile123=) c.343A= (p.Ile115=) n.318+3146A= c.142A= (p.Ile48=) | |
| 15 | g.58010713G>A | CA490587272 | ALDH1A2 | c.429C>T (p.Val143=) c.*403C>T (n.*403C>T) c.366C>T (p.Val122=) c.342C>T (p.Val114=) n.318+3145C>T c.141C>T (p.Val47=) | |
| 15 | g.58010713G>C | CA490587273 | ALDH1A2 | c.429C>G (p.Val143=) c.*403C>G (n.*403C>G) c.366C>G (p.Val122=) c.342C>G (p.Val114=) n.318+3145C>G c.141C>G (p.Val47=) | |
| 15 | g.58010713G>T | CA490587274 | ALDH1A2 | c.429C>A (p.Val143=) c.*403C>A (n.*403C>A) c.366C>A (p.Val122=) c.342C>A (p.Val114=) n.318+3145C>A c.141C>A (p.Val47=) | |
| 15 | g.58010714A>C | CA392790151 | ALDH1A2 | c.428T>G (p.Val143Gly) c.*402T>G (n.*402T>G) c.365T>G (p.Val122Gly) c.341T>G (p.Val114Gly) n.318+3144T>G c.140T>G (p.Val47Gly) | |
| 15 | g.58010714A>G | CA392790152 | ALDH1A2 | c.428T>C (p.Val143Ala) c.*402T>C (n.*402T>C) c.365T>C (p.Val122Ala) c.341T>C (p.Val114Ala) n.318+3144T>C c.140T>C (p.Val47Ala) | |
| 15 | g.58010714A>T | CA392790153 | ALDH1A2 | c.428T>A (p.Val143Asp) c.*402T>A (n.*402T>A) c.365T>A (p.Val122Asp) c.341T>A (p.Val114Asp) n.318+3144T>A c.140T>A (p.Val47Asp) | |
| 15 | g.58010715C>A | CA392790155 | ALDH1A2 | c.427G>T (p.Val143Phe) c.*401G>T (n.*401G>T) c.364G>T (p.Val122Phe) c.340G>T (p.Val114Phe) n.318+3143G>T c.139G>T (p.Val47Phe) | |
| 15 | g.58010715C= | CA2180114118 | ALDH1A2 | c.427G= (p.Val143=) c.*401G= (n.*401G=) c.364G= (p.Val122=) c.340G= (p.Val114=) n.318+3143G= c.139G= (p.Val47=) | |
| 15 | g.58010715C>G | CA392790154 | ALDH1A2 | c.427G>C (p.Val143Leu) c.*401G>C (n.*401G>C) c.364G>C (p.Val122Leu) c.340G>C (p.Val114Leu) n.318+3143G>C c.139G>C (p.Val47Leu) | |
| 15 | g.58010715C>T | CA7584093 | ALDH1A2 | c.427G>A (p.Val143Ile) c.*401G>A (n.*401G>A) c.364G>A (p.Val122Ile) c.340G>A (p.Val114Ile) n.318+3143G>A c.139G>A (p.Val47Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |