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 |
|---|---|---|---|---|---|
| 1 | g.21563141_21563150delinsGTGCCGGCAC | CA1158014012 | ALPL | c.329_338delinsGTGCCGGCAC (p.Ser110=) n.389_398delinsGTGCCGGCAC c.98_107delinsGTGCCGGCAC (p.Ser33=) c.164_173delinsGTGCCGGCAC (p.Ser55=) c.173_182delinsGTGCCGGCAC (p.Ser58=) | |
| 1 | g.21563142_21563150del | CA19059141 | ALPL | c.330_338del (p.Ala111_Thr113del) n.390_398del c.99_107del (p.Ala34_Thr36del) c.165_173del (p.Ala56_Thr58del) c.174_182del (p.Ala59_Thr61del) | dbSNP |
| 1 | g.21563142_21563150delinsTGCCGGCAC | CA1143399657 | ALPL | c.330_338delinsTGCCGGCAC (p.Ser110=) n.390_398delinsTGCCGGCAC c.99_107delinsTGCCGGCAC (p.Ser33=) c.165_173delinsTGCCGGCAC (p.Ser55=) c.174_182delinsTGCCGGCAC (p.Ser58=) | |
| 1 | g.21563143G>A | CA666460 | ALPL | c.331G>A (p.Ala111Thr) n.391G>A c.100G>A (p.Ala34Thr) c.166G>A (p.Ala56Thr) c.175G>A (p.Ala59Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563143G>C | CA338877119 | ALPL | c.331G>C (p.Ala111Pro) n.391G>C c.100G>C (p.Ala34Pro) c.166G>C (p.Ala56Pro) c.175G>C (p.Ala59Pro) | |
| 1 | g.21563143G= | CA1158014013 | ALPL | c.331G= (p.Ala111=) n.391G= c.100G= (p.Ala34=) c.166G= (p.Ala56=) c.175G= (p.Ala59=) | |
| 1 | g.21563143G>T | CA338877120 | ALPL | c.331G>T (p.Ala111Ser) n.391G>T c.100G>T (p.Ala34Ser) c.166G>T (p.Ala56Ser) c.175G>T (p.Ala59Ser) | |
| 1 | g.21563143_21563144insTACAACACCAATGCCCAGGTCCCTGACAGCG | CA999404707 | ALPL | c.331_332insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala111ValfsTer9) n.391_392insTACAACACCAATGCCCAGGTCCCTGACAGCG c.100_101insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala34ValfsTer9) c.166_167insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala56ValfsTer9) c.175_176insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala59ValfsTer9) | |
| 1 | g.21563144C>A | CA338877121 | ALPL | c.332C>A (p.Ala111Asp) n.392C>A c.101C>A (p.Ala34Asp) c.167C>A (p.Ala56Asp) c.176C>A (p.Ala59Asp) | |
| 1 | g.21563144C>G | CA338877122 | ALPL | c.332C>G (p.Ala111Gly) n.392C>G c.101C>G (p.Ala34Gly) c.167C>G (p.Ala56Gly) c.176C>G (p.Ala59Gly) | |
| 1 | g.21563144C>T | CA338877123 | ALPL | c.332C>T (p.Ala111Val) n.392C>T c.101C>T (p.Ala34Val) c.167C>T (p.Ala56Val) c.176C>T (p.Ala59Val) | |
| 1 | g.21563145del | CA2586964017 | ALPL | c.333del (p.Gly112AlafsTer10) n.393del c.102del (p.Gly35AlafsTer10) c.168del (p.Gly57AlafsTer10) c.177del (p.Gly60AlafsTer10) | |
| 1 | g.21563147_21563152dup | CA19059142 | ALPL | c.335_340dup (p.Thr113_Ala114insGlyThr) n.395_400dup c.104_109dup (p.Thr36_Ala37insGlyThr) c.170_175dup (p.Thr58_Ala59insGlyThr) c.179_184dup (p.Thr61_Ala62insGlyThr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21563145C>A | CA416525683 | ALPL | c.333C>A (p.Ala111=) n.393C>A c.102C>A (p.Ala34=) c.168C>A (p.Ala56=) c.177C>A (p.Ala59=) | |
| 1 | g.21563145C= | CA1158014014 | ALPL | c.333C= (p.Ala111=) n.393C= c.102C= (p.Ala34=) c.168C= (p.Ala56=) c.177C= (p.Ala59=) | |
| 1 | g.21563145C>G | CA416525686 | ALPL | c.333C>G (p.Ala111=) n.393C>G c.102C>G (p.Ala34=) c.168C>G (p.Ala56=) c.177C>G (p.Ala59=) | |
| 1 | g.21563145C>T | CA666461 | ALPL | c.333C>T (p.Ala111=) n.393C>T c.102C>T (p.Ala34=) c.168C>T (p.Ala56=) c.177C>T (p.Ala59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563146G>A | CA338877125 | ALPL | c.334G>A (p.Gly112Ser) n.394G>A c.103G>A (p.Gly35Ser) c.169G>A (p.Gly57Ser) c.178G>A (p.Gly60Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21563146G>C | CA338877126 | ALPL | c.334G>C (p.Gly112Arg) n.394G>C c.103G>C (p.Gly35Arg) c.169G>C (p.Gly57Arg) c.178G>C (p.Gly60Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21563146G= | CA1158014015 | ALPL | c.334G= (p.Gly112=) n.394G= c.103G= (p.Gly35=) c.169G= (p.Gly57=) c.178G= (p.Gly60=) | |
| 1 | g.21563146G>T | CA338877124 | ALPL | c.334G>T (p.Gly112Cys) n.394G>T c.103G>T (p.Gly35Cys) c.169G>T (p.Gly57Cys) c.178G>T (p.Gly60Cys) | COSMIC |
| 1 | g.21563147G>A | CA338877129 | ALPL | c.335G>A (p.Gly112Asp) n.395G>A c.104G>A (p.Gly35Asp) c.170G>A (p.Gly57Asp) c.179G>A (p.Gly60Asp) | |
| 1 | g.21563147G>C | CA338877127 | ALPL | c.335G>C (p.Gly112Ala) n.395G>C c.104G>C (p.Gly35Ala) c.170G>C (p.Gly57Ala) c.179G>C (p.Gly60Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21563147G>T | CA338877128 | ALPL | c.335G>T (p.Gly112Val) n.395G>T c.104G>T (p.Gly35Val) c.170G>T (p.Gly57Val) c.179G>T (p.Gly60Val) | |
| 1 | g.21563148C>A | CA416525697 | ALPL | c.336C>A (p.Gly112=) n.396C>A c.105C>A (p.Gly35=) c.171C>A (p.Gly57=) c.180C>A (p.Gly60=) | |
| 1 | g.21563148C>G | CA416525699 | ALPL | c.336C>G (p.Gly112=) n.396C>G c.105C>G (p.Gly35=) c.171C>G (p.Gly57=) c.180C>G (p.Gly60=) | |
| 1 | g.21563148C>T | CA416525695 | ALPL | c.336C>T (p.Gly112=) n.396C>T c.105C>T (p.Gly35=) c.171C>T (p.Gly57=) c.180C>T (p.Gly60=) | |
| 1 | g.21563155_21563160dup | CA2580611134 | ALPL | c.343_348dup (p.Ala116_Tyr117insThrAla) n.403_408dup c.112_117dup (p.Ala39_Tyr40insThrAla) c.178_183dup (p.Ala61_Tyr62insThrAla) c.187_192dup (p.Ala64_Tyr65insThrAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21563149A>C | CA338877130 | ALPL | c.337A>C (p.Thr113Pro) n.397A>C c.106A>C (p.Thr36Pro) c.172A>C (p.Thr58Pro) c.181A>C (p.Thr61Pro) | |
| 1 | g.21563149A>G | CA338877131 | ALPL | c.337A>G (p.Thr113Ala) n.397A>G c.106A>G (p.Thr36Ala) c.172A>G (p.Thr58Ala) c.181A>G (p.Thr61Ala) | |
| 1 | g.21563149A>T | CA338877132 | ALPL | c.337A>T (p.Thr113Ser) n.397A>T c.106A>T (p.Thr36Ser) c.172A>T (p.Thr58Ser) c.181A>T (p.Thr61Ser) | |
| 1 | g.21563150C>A | CA338877133 | ALPL | c.338C>A (p.Thr113Asn) n.398C>A c.107C>A (p.Thr36Asn) c.173C>A (p.Thr58Asn) c.182C>A (p.Thr61Asn) | |
| 1 | g.21563150C>G | CA338877134 | ALPL | c.338C>G (p.Thr113Ser) n.398C>G c.107C>G (p.Thr36Ser) c.173C>G (p.Thr58Ser) c.182C>G (p.Thr61Ser) | |
| 1 | g.21563150C>T | CA338877135 | ALPL | c.338C>T (p.Thr113Ile) n.398C>T c.107C>T (p.Thr36Ile) c.173C>T (p.Thr58Ile) c.182C>T (p.Thr61Ile) | |
| 1 | g.21563151C>A | CA416525713 | ALPL | c.339C>A (p.Thr113=) n.399C>A c.108C>A (p.Thr36=) c.174C>A (p.Thr58=) c.183C>A (p.Thr61=) | |
| 1 | g.21563151C= | CA1144193793 | ALPL | c.339C= (p.Thr113=) n.399C= c.108C= (p.Thr36=) c.174C= (p.Thr58=) c.183C= (p.Thr61=) | |
| 1 | g.21563151C>G | CA416525710 | ALPL | c.339C>G (p.Thr113=) n.399C>G c.108C>G (p.Thr36=) c.174C>G (p.Thr58=) c.183C>G (p.Thr61=) | |
| 1 | g.21563151C>T | CA666462 | ALPL | c.339C>T (p.Thr113=) n.399C>T c.108C>T (p.Thr36=) c.174C>T (p.Thr58=) c.183C>T (p.Thr61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563152G>A | CA338877136 | ALPL | c.340G>A (p.Ala114Thr) n.400G>A c.109G>A (p.Ala37Thr) c.175G>A (p.Ala59Thr) c.184G>A (p.Ala62Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21563152G>C | CA338877137 | ALPL | c.340G>C (p.Ala114Pro) n.400G>C c.109G>C (p.Ala37Pro) c.175G>C (p.Ala59Pro) c.184G>C (p.Ala62Pro) | |
| 1 | g.21563152G= | CA1158014016 | ALPL | c.340G= (p.Ala114=) n.400G= c.109G= (p.Ala37=) c.175G= (p.Ala59=) c.184G= (p.Ala62=) | |
| 1 | g.21563152G>T | CA338877138 | ALPL | c.340G>T (p.Ala114Ser) n.400G>T c.109G>T (p.Ala37Ser) c.175G>T (p.Ala59Ser) c.184G>T (p.Ala62Ser) | |
| 1 | g.21563153C>A | CA338877139 | ALPL | c.341C>A (p.Ala114Asp) n.401C>A c.110C>A (p.Ala37Asp) c.176C>A (p.Ala59Asp) c.185C>A (p.Ala62Asp) | |
| 1 | g.21563153C= | CA1158014017 | ALPL | c.341C= (p.Ala114=) n.401C= c.110C= (p.Ala37=) c.176C= (p.Ala59=) c.185C= (p.Ala62=) | |
| 1 | g.21563153C>G | CA338877140 | ALPL | c.341C>G (p.Ala114Gly) n.401C>G c.110C>G (p.Ala37Gly) c.176C>G (p.Ala59Gly) c.185C>G (p.Ala62Gly) | |
| 1 | g.21563153C>T | CA666463 | ALPL | c.341C>T (p.Ala114Val) n.401C>T c.110C>T (p.Ala37Val) c.176C>T (p.Ala59Val) c.185C>T (p.Ala62Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563154C>A | CA416525723 | ALPL | c.342C>A (p.Ala114=) n.402C>A c.111C>A (p.Ala37=) c.177C>A (p.Ala59=) c.186C>A (p.Ala62=) | |
| 1 | g.21563154C>G | CA416525721 | ALPL | c.342C>G (p.Ala114=) n.402C>G c.111C>G (p.Ala37=) c.177C>G (p.Ala59=) c.186C>G (p.Ala62=) | |
| 1 | g.21563154C>T | CA416525725 | ALPL | c.342C>T (p.Ala114=) n.402C>T c.111C>T (p.Ala37=) c.177C>T (p.Ala59=) c.186C>T (p.Ala62=) | |
| 1 | g.21563155A>C | CA338877141 | ALPL | c.343A>C (p.Thr115Pro) n.403A>C c.112A>C (p.Thr38Pro) c.178A>C (p.Thr60Pro) c.187A>C (p.Thr63Pro) |