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.31070118C>A | CA391537208 | TRPM1 | c.126G>T (p.Trp42Cys) c.243G>T (p.Trp81Cys) c.192G>T (p.Trp64Cys) | |
| 15 | g.31070118C>G | CA391537210 | TRPM1 | c.126G>C (p.Trp42Cys) c.243G>C (p.Trp81Cys) c.192G>C (p.Trp64Cys) | |
| 15 | g.31070118C>T | CA391537212 | TRPM1 | c.126G>A (p.Trp42Ter) c.243G>A (p.Trp81Ter) c.192G>A (p.Trp64Ter) | |
| 15 | g.31070119C>A | CA391537214 | TRPM1 | c.125G>T (p.Trp42Leu) c.242G>T (p.Trp81Leu) c.191G>T (p.Trp64Leu) | |
| 15 | g.31070119C= | CA2167784156 | TRPM1 | c.125G= (p.Trp42=) c.242G= (p.Trp81=) c.191G= (p.Trp64=) | |
| 15 | g.31070119C>G | CA7453060 | TRPM1 | c.125G>C (p.Trp42Ser) c.242G>C (p.Trp81Ser) c.191G>C (p.Trp64Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.31070119C>T | CA391537218 | TRPM1 | c.125G>A (p.Trp42Ter) c.242G>A (p.Trp81Ter) c.191G>A (p.Trp64Ter) | |
| 15 | g.31070120A>C | CA391537221 | TRPM1 | c.124T>G (p.Trp42Gly) c.241T>G (p.Trp81Gly) c.190T>G (p.Trp64Gly) | |
| 15 | g.31070120A>G | CA391537222 | TRPM1 | c.124T>C (p.Trp42Arg) c.241T>C (p.Trp81Arg) c.190T>C (p.Trp64Arg) | |
| 15 | g.31070120A>T | CA391537224 | TRPM1 | c.124T>A (p.Trp42Arg) c.241T>A (p.Trp81Arg) c.190T>A (p.Trp64Arg) | |
| 15 | g.31070121T>A | CA391537225 | TRPM1 | c.123A>T (p.Lys41Asn) c.240A>T (p.Lys80Asn) c.189A>T (p.Lys63Asn) | gnomAD v4 |
| 15 | g.31070121T>C | CA489644894 | TRPM1 | c.123A>G (p.Lys41=) c.240A>G (p.Lys80=) c.189A>G (p.Lys63=) | |
| 15 | g.31070121T>G | CA391537226 | TRPM1 | c.123A>C (p.Lys41Asn) c.240A>C (p.Lys80Asn) c.189A>C (p.Lys63Asn) | |
| 15 | g.31070122T>A | CA391537232 | TRPM1 | c.122A>T (p.Lys41Ile) c.239A>T (p.Lys80Ile) c.188A>T (p.Lys63Ile) | |
| 15 | g.31070122T>C | CA391537230 | TRPM1 | c.122A>G (p.Lys41Arg) c.239A>G (p.Lys80Arg) c.188A>G (p.Lys63Arg) | |
| 15 | g.31070122T>G | CA391537229 | TRPM1 | c.122A>C (p.Lys41Thr) c.239A>C (p.Lys80Thr) c.188A>C (p.Lys63Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.31070122T= | CA2167784157 | TRPM1 | c.122A= (p.Lys41=) c.239A= (p.Lys80=) c.188A= (p.Lys63=) | |
| 15 | g.31070123T>A | CA391537235 | TRPM1 | c.121A>T (p.Lys41Ter) c.238A>T (p.Lys80Ter) c.187A>T (p.Lys63Ter) | |
| 15 | g.31070123T>C | CA391537238 | TRPM1 | c.121A>G (p.Lys41Glu) c.238A>G (p.Lys80Glu) c.187A>G (p.Lys63Glu) | dbSNP |
| 15 | g.31070123T>G | CA391537236 | TRPM1 | c.121A>C (p.Lys41Gln) c.238A>C (p.Lys80Gln) c.187A>C (p.Lys63Gln) | |
| 15 | g.31070123T= | CA2167784158 | TRPM1 | c.121A= (p.Lys41=) c.238A= (p.Lys80=) c.187A= (p.Lys63=) | |
| 15 | g.31070124C>A | CA391537241 | TRPM1 | c.120G>T (p.Glu40Asp) c.237G>T (p.Glu79Asp) c.186G>T (p.Glu62Asp) | |
| 15 | g.31070124C>G | CA391537242 | TRPM1 | c.120G>C (p.Glu40Asp) c.237G>C (p.Glu79Asp) c.186G>C (p.Glu62Asp) | |
| 15 | g.31070124C>T | CA489644897 | TRPM1 | c.120G>A (p.Glu40=) c.237G>A (p.Glu79=) c.186G>A (p.Glu62=) | |
| 15 | g.31070125T>A | CA391537245 | TRPM1 | c.119A>T (p.Glu40Val) c.236A>T (p.Glu79Val) c.185A>T (p.Glu62Val) | |
| 15 | g.31070125T>C | CA391537246 | TRPM1 | c.119A>G (p.Glu40Gly) c.236A>G (p.Glu79Gly) c.185A>G (p.Glu62Gly) | |
| 15 | g.31070125T>G | CA391537248 | TRPM1 | c.119A>C (p.Glu40Ala) c.236A>C (p.Glu79Ala) c.185A>C (p.Glu62Ala) | |
| 15 | g.31070126C>A | CA391537250 | TRPM1 | c.118G>T (p.Glu40Ter) c.235G>T (p.Glu79Ter) c.184G>T (p.Glu62Ter) | |
| 15 | g.31070126C= | CA2167784159 | TRPM1 | c.118G= (p.Glu40=) c.235G= (p.Glu79=) c.184G= (p.Glu62=) | |
| 15 | g.31070126C>G | CA7453061 | TRPM1 | c.118G>C (p.Glu40Gln) c.235G>C (p.Glu79Gln) c.184G>C (p.Glu62Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.31070126C>T | CA243263 | TRPM1 | c.118G>A (p.Glu40Lys) c.235G>A (p.Glu79Lys) c.184G>A (p.Glu62Lys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.31070127A>C | CA489644899 | TRPM1 | c.117T>G (p.Pro39=) c.234T>G (p.Pro78=) c.183T>G (p.Pro61=) | gnomAD v4 |
| 15 | g.31070127A>G | CA489644898 | TRPM1 | c.117T>C (p.Pro39=) c.234T>C (p.Pro78=) c.183T>C (p.Pro61=) | |
| 15 | g.31070127A>T | CA489644901 | TRPM1 | c.117T>A (p.Pro39=) c.234T>A (p.Pro78=) c.183T>A (p.Pro61=) | |
| 15 | g.31070128G>A | CA391537258 | TRPM1 | c.116C>T (p.Pro39Leu) c.233C>T (p.Pro78Leu) c.182C>T (p.Pro61Leu) | |
| 15 | g.31070128G>C | CA391537255 | TRPM1 | c.116C>G (p.Pro39Arg) c.233C>G (p.Pro78Arg) c.182C>G (p.Pro61Arg) | |
| 15 | g.31070128G>T | CA391537256 | TRPM1 | c.116C>A (p.Pro39His) c.233C>A (p.Pro78His) c.182C>A (p.Pro61His) | |
| 15 | g.31070129G>A | CA391537261 | TRPM1 | c.115C>T (p.Pro39Ser) c.232C>T (p.Pro78Ser) c.181C>T (p.Pro61Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.31070129G>C | CA391537262 | TRPM1 | c.115C>G (p.Pro39Ala) c.232C>G (p.Pro78Ala) c.181C>G (p.Pro61Ala) | |
| 15 | g.31070129G= | CA2167784160 | TRPM1 | c.115C= (p.Pro39=) c.232C= (p.Pro78=) c.181C= (p.Pro61=) | |
| 15 | g.31070129G>T | CA391537263 | TRPM1 | c.115C>A (p.Pro39Thr) c.232C>A (p.Pro78Thr) c.181C>A (p.Pro61Thr) | |
| 15 | g.31070130C>A | CA391537265 | TRPM1 | c.114G>T (p.Gln38His) c.231G>T (p.Gln77His) c.180G>T (p.Gln60His) | |
| 15 | g.31070130C>G | CA391537267 | TRPM1 | c.114G>C (p.Gln38His) c.231G>C (p.Gln77His) c.180G>C (p.Gln60His) | |
| 15 | g.31070130C>T | CA489644904 | TRPM1 | c.114G>A (p.Gln38=) c.231G>A (p.Gln77=) c.180G>A (p.Gln60=) | |
| 15 | g.31070131T>A | CA391537270 | TRPM1 | c.113A>T (p.Gln38Leu) c.230A>T (p.Gln77Leu) c.179A>T (p.Gln60Leu) | |
| 15 | g.31070131T>C | CA391537274 | TRPM1 | c.113A>G (p.Gln38Arg) c.230A>G (p.Gln77Arg) c.179A>G (p.Gln60Arg) | |
| 15 | g.31070131T>G | CA391537272 | TRPM1 | c.113A>C (p.Gln38Pro) c.230A>C (p.Gln77Pro) c.179A>C (p.Gln60Pro) | |
| 15 | g.31070131_31070133delinsTGA | CA2167784161 | TRPM1 | c.111_113delinsTCA (p.Thr37=) c.228_230delinsTCA (p.Thr76=) c.177_179delinsTCA (p.Thr59=) | |
| 15 | g.31070132G>A | CA391537277 | TRPM1 | c.112C>T (p.Gln38Ter) c.229C>T (p.Gln77Ter) c.178C>T (p.Gln60Ter) | |
| 15 | g.31070132G>C | CA391537278 | TRPM1 | c.112C>G (p.Gln38Glu) c.229C>G (p.Gln77Glu) c.178C>G (p.Gln60Glu) |