WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957191C>A | CA385217268 | PMEL | c.1112G>T (p.Ser371Ile) c.950G>T (p.Ser317Ile) c.665G>T (p.Ser222Ile) c.774G>T n.152G>T c.358+1282G>T (n.358+1282G>T) c.854G>T (p.Ser285Ile) | |
| 12 | g.55957191C= | CA2038181288 | PMEL | c.1112G= (p.Ser371=) c.950G= (p.Ser317=) c.665G= (p.Ser222=) c.774G= n.152G= c.358+1282G= (n.358+1282G=) c.854G= (p.Ser285=) | |
| 12 | g.55957191C>G | CA6620069 | PMEL | c.1112G>C (p.Ser371Thr) c.950G>C (p.Ser317Thr) c.665G>C (p.Ser222Thr) c.774G>C n.152G>C c.358+1282G>C (n.358+1282G>C) c.854G>C (p.Ser285Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55957191C>T | CA385217271 | PMEL | c.1112G>A (p.Ser371Asn) c.950G>A (p.Ser317Asn) c.665G>A (p.Ser222Asn) c.774G>A n.152G>A c.358+1282G>A (n.358+1282G>A) c.854G>A (p.Ser285Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957192T>A | CA385217273 | PMEL | c.1111A>T (p.Ser371Cys) c.949A>T (p.Ser317Cys) c.664A>T (p.Ser222Cys) c.773A>T n.151A>T c.358+1281A>T (n.358+1281A>T) c.853A>T (p.Ser285Cys) | |
| 12 | g.55957192T>C | CA385217275 | PMEL | c.1111A>G (p.Ser371Gly) c.949A>G (p.Ser317Gly) c.664A>G (p.Ser222Gly) c.773A>G n.151A>G c.358+1281A>G (n.358+1281A>G) c.853A>G (p.Ser285Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957192T>G | CA385217277 | PMEL | c.1111A>C (p.Ser371Arg) c.949A>C (p.Ser317Arg) c.664A>C (p.Ser222Arg) c.773A>C n.151A>C c.358+1281A>C (n.358+1281A>C) c.853A>C (p.Ser285Arg) | gnomAD v4 |
| 12 | g.55957192T= | CA2038181292 | PMEL | c.1111A= (p.Ser371=) c.949A= (p.Ser317=) c.664A= (p.Ser222=) c.773A= n.151A= c.358+1281A= (n.358+1281A=) c.853A= (p.Ser285=) | |
| 12 | g.55957193C>A | CA385217279 | PMEL | c.1110G>T (p.Glu370Asp) c.948G>T (p.Glu316Asp) c.663G>T (p.Glu221Asp) c.772G>T n.150G>T c.358+1280G>T (n.358+1280G>T) c.852G>T (p.Glu284Asp) | COSMIC COSMIC |
| 12 | g.55957193C= | CA2038181296 | PMEL | c.1110G= (p.Glu370=) c.948G= (p.Glu316=) c.663G= (p.Glu221=) c.772G= n.150G= c.358+1280G= (n.358+1280G=) c.852G= (p.Glu284=) | |
| 12 | g.55957193C>G | CA6620070 | PMEL | c.1110G>C (p.Glu370Asp) c.948G>C (p.Glu316Asp) c.663G>C (p.Glu221Asp) c.772G>C n.150G>C c.358+1280G>C (n.358+1280G>C) c.852G>C (p.Glu284Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957193C>T | CA480364993 | PMEL | c.1110G>A (p.Glu370=) c.948G>A (p.Glu316=) c.663G>A (p.Glu221=) c.772G>A n.150G>A c.358+1280G>A (n.358+1280G>A) c.852G>A (p.Glu284=) | gnomAD v4 |
| 12 | g.55957194T>A | CA385217280 | PMEL | c.1109A>T (p.Glu370Val) c.947A>T (p.Glu316Val) c.662A>T (p.Glu221Val) c.771A>T n.149A>T c.358+1279A>T (n.358+1279A>T) c.851A>T (p.Glu284Val) | |
| 12 | g.55957194T>C | CA385217283 | PMEL | c.1109A>G (p.Glu370Gly) c.947A>G (p.Glu316Gly) c.662A>G (p.Glu221Gly) c.771A>G n.149A>G c.358+1279A>G (n.358+1279A>G) c.851A>G (p.Glu284Gly) | |
| 12 | g.55957194T>G | CA385217282 | PMEL | c.1109A>C (p.Glu370Ala) c.947A>C (p.Glu316Ala) c.662A>C (p.Glu221Ala) c.771A>C n.149A>C c.358+1279A>C (n.358+1279A>C) c.851A>C (p.Glu284Ala) | |
| 12 | g.55957195C>A | CA385217284 | PMEL | c.1108G>T (p.Glu370Ter) c.946G>T (p.Glu316Ter) c.661G>T (p.Glu221Ter) c.770G>T n.148G>T c.358+1278G>T (n.358+1278G>T) c.850G>T (p.Glu284Ter) | |
| 12 | g.55957195C>G | CA385217286 | PMEL | c.1108G>C (p.Glu370Gln) c.946G>C (p.Glu316Gln) c.661G>C (p.Glu221Gln) c.770G>C n.148G>C c.358+1278G>C (n.358+1278G>C) c.850G>C (p.Glu284Gln) | |
| 12 | g.55957195C>T | CA385217287 | PMEL | c.1108G>A (p.Glu370Lys) c.946G>A (p.Glu316Lys) c.661G>A (p.Glu221Lys) c.770G>A n.148G>A c.358+1278G>A (n.358+1278G>A) c.850G>A (p.Glu284Lys) | |
| 12 | g.55957196T>A | CA480364997 | PMEL | c.1107A>T (p.Ala369=) c.945A>T (p.Ala315=) c.660A>T (p.Ala220=) c.769A>T n.147A>T c.358+1277A>T (n.358+1277A>T) c.849A>T (p.Ala283=) | |
| 12 | g.55957196T>C | CA480364999 | PMEL | c.1107A>G (p.Ala369=) c.945A>G (p.Ala315=) c.660A>G (p.Ala220=) c.769A>G n.147A>G c.358+1277A>G (n.358+1277A>G) c.849A>G (p.Ala283=) | |
| 12 | g.55957196T>G | CA480365001 | PMEL | c.1107A>C (p.Ala369=) c.945A>C (p.Ala315=) c.660A>C (p.Ala220=) c.769A>C n.147A>C c.358+1277A>C (n.358+1277A>C) c.849A>C (p.Ala283=) | gnomAD v4 |
| 12 | g.55957197G>A | CA385217290 | PMEL | c.1106C>T (p.Ala369Val) c.944C>T (p.Ala315Val) c.659C>T (p.Ala220Val) c.768C>T n.146C>T c.358+1276C>T (n.358+1276C>T) c.848C>T (p.Ala283Val) | |
| 12 | g.55957197G>C | CA385217291 | PMEL | c.1106C>G (p.Ala369Gly) c.944C>G (p.Ala315Gly) c.659C>G (p.Ala220Gly) c.768C>G n.146C>G c.358+1276C>G (n.358+1276C>G) c.848C>G (p.Ala283Gly) | |
| 12 | g.55957197G>T | CA385217293 | PMEL | c.1106C>A (p.Ala369Glu) c.944C>A (p.Ala315Glu) c.659C>A (p.Ala220Glu) c.768C>A n.146C>A c.358+1276C>A (n.358+1276C>A) c.848C>A (p.Ala283Glu) | |
| 12 | g.55957198C>A | CA385217294 | PMEL | c.1105G>T (p.Ala369Ser) c.943G>T (p.Ala315Ser) c.658G>T (p.Ala220Ser) c.767G>T n.145G>T c.358+1275G>T (n.358+1275G>T) c.847G>T (p.Ala283Ser) | |
| 12 | g.55957198C>G | CA385217295 | PMEL | c.1105G>C (p.Ala369Pro) c.943G>C (p.Ala315Pro) c.658G>C (p.Ala220Pro) c.767G>C n.145G>C c.358+1275G>C (n.358+1275G>C) c.847G>C (p.Ala283Pro) | |
| 12 | g.55957198C>T | CA385217296 | PMEL | c.1105G>A (p.Ala369Thr) c.943G>A (p.Ala315Thr) c.658G>A (p.Ala220Thr) c.767G>A n.145G>A c.358+1275G>A (n.358+1275G>A) c.847G>A (p.Ala283Thr) | |
| 12 | g.55957199A>C | CA480365008 | PMEL | c.1104T>G (p.Thr368=) c.942T>G (p.Thr314=) c.657T>G (p.Thr219=) c.766T>G n.144T>G c.358+1274T>G (n.358+1274T>G) c.846T>G (p.Thr282=) | |
| 12 | g.55957199A>G | CA480365007 | PMEL | c.1104T>C (p.Thr368=) c.942T>C (p.Thr314=) c.657T>C (p.Thr219=) c.766T>C n.144T>C c.358+1274T>C (n.358+1274T>C) c.846T>C (p.Thr282=) | dbSNP |
| 12 | g.55957199A>T | CA480365006 | PMEL | c.1104T>A (p.Thr368=) c.942T>A (p.Thr314=) c.657T>A (p.Thr219=) c.766T>A n.144T>A c.358+1274T>A (n.358+1274T>A) c.846T>A (p.Thr282=) | |
| 12 | g.55957200G>A | CA385217298 | PMEL | c.1103C>T (p.Thr368Ile) c.941C>T (p.Thr314Ile) c.656C>T (p.Thr219Ile) c.765C>T n.143C>T c.358+1273C>T (n.358+1273C>T) c.845C>T (p.Thr282Ile) | |
| 12 | g.55957200G>C | CA385217300 | PMEL | c.1103C>G (p.Thr368Ser) c.941C>G (p.Thr314Ser) c.656C>G (p.Thr219Ser) c.765C>G n.143C>G c.358+1273C>G (n.358+1273C>G) c.845C>G (p.Thr282Ser) | |
| 12 | g.55957200G>T | CA385217301 | PMEL | c.1103C>A (p.Thr368Asn) c.941C>A (p.Thr314Asn) c.656C>A (p.Thr219Asn) c.765C>A n.143C>A c.358+1273C>A (n.358+1273C>A) c.845C>A (p.Thr282Asn) | gnomAD v4 |
| 12 | g.55957201T>A | CA385217307 | PMEL | c.1102A>T (p.Thr368Ser) c.940A>T (p.Thr314Ser) c.655A>T (p.Thr219Ser) c.764A>T n.142A>T c.358+1272A>T (n.358+1272A>T) c.844A>T (p.Thr282Ser) | |
| 12 | g.55957201T>C | CA385217305 | PMEL | c.1102A>G (p.Thr368Ala) c.940A>G (p.Thr314Ala) c.655A>G (p.Thr219Ala) c.764A>G n.142A>G c.358+1272A>G (n.358+1272A>G) c.844A>G (p.Thr282Ala) | |
| 12 | g.55957201T>G | CA385217303 | PMEL | c.1102A>C (p.Thr368Pro) c.940A>C (p.Thr314Pro) c.655A>C (p.Thr219Pro) c.764A>C n.142A>C c.358+1272A>C (n.358+1272A>C) c.844A>C (p.Thr282Pro) | |
| 12 | g.55957202T>A | CA480365014 | PMEL | c.1101A>T (p.Pro367=) c.939A>T (p.Pro313=) c.654A>T (p.Pro218=) c.763A>T n.141A>T c.358+1271A>T (n.358+1271A>T) c.843A>T (p.Pro281=) | |
| 12 | g.55957202T>C | CA480365012 | PMEL | c.1101A>G (p.Pro367=) c.939A>G (p.Pro313=) c.654A>G (p.Pro218=) c.763A>G n.141A>G c.358+1271A>G (n.358+1271A>G) c.843A>G (p.Pro281=) | |
| 12 | g.55957202T>G | CA480365010 | PMEL | c.1101A>C (p.Pro367=) c.939A>C (p.Pro313=) c.654A>C (p.Pro218=) c.763A>C n.141A>C c.358+1271A>C (n.358+1271A>C) c.843A>C (p.Pro281=) | |
| 12 | g.55957203G>A | CA385217309 | PMEL | c.1100C>T (p.Pro367Leu) c.938C>T (p.Pro313Leu) c.653C>T (p.Pro218Leu) c.762C>T n.140C>T c.358+1270C>T (n.358+1270C>T) c.842C>T (p.Pro281Leu) | |
| 12 | g.55957203G>C | CA385217310 | PMEL | c.1100C>G (p.Pro367Arg) c.938C>G (p.Pro313Arg) c.653C>G (p.Pro218Arg) c.762C>G n.140C>G c.358+1270C>G (n.358+1270C>G) c.842C>G (p.Pro281Arg) | |
| 12 | g.55957203G>T | CA385217312 | PMEL | c.1100C>A (p.Pro367Gln) c.938C>A (p.Pro313Gln) c.653C>A (p.Pro218Gln) c.762C>A n.140C>A c.358+1270C>A (n.358+1270C>A) c.842C>A (p.Pro281Gln) | |
| 12 | g.55957204G>A | CA237590966 | PMEL | c.1099C>T (p.Pro367Ser) c.937C>T (p.Pro313Ser) c.652C>T (p.Pro218Ser) c.761C>T n.139C>T c.358+1269C>T (n.358+1269C>T) c.841C>T (p.Pro281Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957204G>C | CA385217314 | PMEL | c.1099C>G (p.Pro367Ala) c.937C>G (p.Pro313Ala) c.652C>G (p.Pro218Ala) c.761C>G n.139C>G c.358+1269C>G (n.358+1269C>G) c.841C>G (p.Pro281Ala) | |
| 12 | g.55957204G= | CA2038181301 | PMEL | c.1099C= (p.Pro367=) c.937C= (p.Pro313=) c.652C= (p.Pro218=) c.761C= n.139C= c.358+1269C= (n.358+1269C=) c.841C= (p.Pro281=) | |
| 12 | g.55957204G>T | CA385217315 | PMEL | c.1099C>A (p.Pro367Thr) c.937C>A (p.Pro313Thr) c.652C>A (p.Pro218Thr) c.761C>A n.139C>A c.358+1269C>A (n.358+1269C>A) c.841C>A (p.Pro281Thr) | |
| 12 | g.55957205C>A | CA385217318 | PMEL | c.1098G>T (p.Met366Ile) c.936G>T (p.Met312Ile) c.651G>T (p.Met217Ile) c.760G>T n.138G>T c.358+1268G>T (n.358+1268G>T) c.840G>T (p.Met280Ile) | |
| 12 | g.55957205C>G | CA385217320 | PMEL | c.1098G>C (p.Met366Ile) c.936G>C (p.Met312Ile) c.651G>C (p.Met217Ile) c.760G>C n.138G>C c.358+1268G>C (n.358+1268G>C) c.840G>C (p.Met280Ile) | |
| 12 | g.55957205C>T | CA385217321 | PMEL | c.1098G>A (p.Met366Ile) c.936G>A (p.Met312Ile) c.651G>A (p.Met217Ile) c.760G>A n.138G>A c.358+1268G>A (n.358+1268G>A) c.840G>A (p.Met280Ile) | |
| 12 | g.55957206A>C | CA385217323 | PMEL | c.1097T>G (p.Met366Arg) c.935T>G (p.Met312Arg) c.650T>G (p.Met217Arg) c.759T>G n.137T>G c.358+1267T>G (n.358+1267T>G) c.839T>G (p.Met280Arg) |