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.159304102A= | CA1139927833 | FCER1A | c.251A= (p.Lys84=) c.152A= (p.Lys51=) c.76+1228A= (n.76+1228A=) | |
| 1 | g.159304102A>C | CA343059190 | FCER1A | c.251A>C (p.Lys84Thr) c.152A>C (p.Lys51Thr) c.76+1228A>C (n.76+1228A>C) | |
| 1 | g.159304102A>G | CA1187951 | FCER1A | c.251A>G (p.Lys84Arg) c.152A>G (p.Lys51Arg) c.76+1228A>G (n.76+1228A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159304102A>T | CA31366312 | FCER1A | c.251A>T (p.Lys84Ile) c.152A>T (p.Lys51Ile) c.76+1228A>T (n.76+1228A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159304103A= | CA1201831518 | FCER1A | c.252A= (p.Lys84=) c.153A= (p.Lys51=) c.76+1229A= (n.76+1229A=) | |
| 1 | g.159304103A>C | CA343059194 | FCER1A | c.252A>C (p.Lys84Asn) c.153A>C (p.Lys51Asn) c.76+1229A>C (n.76+1229A>C) | |
| 1 | g.159304103A>G | CA421593211 | FCER1A | c.252A>G (p.Lys84=) c.153A>G (p.Lys51=) c.76+1229A>G (n.76+1229A>G) | dbSNP gnomAD v4 |
| 1 | g.159304103A>T | CA343059196 | FCER1A | c.252A>T (p.Lys84Asn) c.153A>T (p.Lys51Asn) c.76+1229A>T (n.76+1229A>T) | |
| 1 | g.159304104T>A | CA343059198 | FCER1A | c.253T>A (p.Phe85Ile) c.154T>A (p.Phe52Ile) c.76+1230T>A (n.76+1230T>A) | |
| 1 | g.159304104T>C | CA343059202 | FCER1A | c.253T>C (p.Phe85Leu) c.154T>C (p.Phe52Leu) c.76+1230T>C (n.76+1230T>C) | |
| 1 | g.159304104T>G | CA343059200 | FCER1A | c.253T>G (p.Phe85Val) c.154T>G (p.Phe52Val) c.76+1230T>G (n.76+1230T>G) | |
| 1 | g.159304105T>A | CA343059204 | FCER1A | c.254T>A (p.Phe85Tyr) c.155T>A (p.Phe52Tyr) c.76+1231T>A (n.76+1231T>A) | |
| 1 | g.159304105T>C | CA343059208 | FCER1A | c.254T>C (p.Phe85Ser) c.155T>C (p.Phe52Ser) c.76+1231T>C (n.76+1231T>C) | |
| 1 | g.159304105T>G | CA343059206 | FCER1A | c.254T>G (p.Phe85Cys) c.155T>G (p.Phe52Cys) c.76+1231T>G (n.76+1231T>G) | |
| 1 | g.159304106T>A | CA343059211 | FCER1A | c.255T>A (p.Phe85Leu) c.156T>A (p.Phe52Leu) c.76+1232T>A (n.76+1232T>A) | |
| 1 | g.159304106T>C | CA421593212 | FCER1A | c.255T>C (p.Phe85=) c.156T>C (p.Phe52=) c.76+1232T>C (n.76+1232T>C) | |
| 1 | g.159304106T>G | CA1187952 | FCER1A | c.255T>G (p.Phe85Leu) c.156T>G (p.Phe52Leu) c.76+1232T>G (n.76+1232T>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.159304106T= | CA1201831519 | FCER1A | c.255T= (p.Phe85=) c.156T= (p.Phe52=) c.76+1232T= (n.76+1232T=) | |
| 1 | g.159304107G>A | CA343059214 | FCER1A | c.256G>A (p.Glu86Lys) c.157G>A (p.Glu53Lys) c.76+1233G>A (n.76+1233G>A) | COSMIC |
| 1 | g.159304107G>C | CA343059216 | FCER1A | c.256G>C (p.Glu86Gln) c.157G>C (p.Glu53Gln) c.76+1233G>C (n.76+1233G>C) | gnomAD v4 |
| 1 | g.159304107G>T | CA343059217 | FCER1A | c.256G>T (p.Glu86Ter) c.157G>T (p.Glu53Ter) c.76+1233G>T (n.76+1233G>T) | |
| 1 | g.159304108A>C | CA343059220 | FCER1A | c.257A>C (p.Glu86Ala) c.158A>C (p.Glu53Ala) c.76+1234A>C (n.76+1234A>C) | |
| 1 | g.159304108A>G | CA343059222 | FCER1A | c.257A>G (p.Glu86Gly) c.158A>G (p.Glu53Gly) c.76+1234A>G (n.76+1234A>G) | |
| 1 | g.159304108A>T | CA343059224 | FCER1A | c.257A>T (p.Glu86Val) c.158A>T (p.Glu53Val) c.76+1234A>T (n.76+1234A>T) | |
| 1 | g.159304109A= | CA1144089718 | FCER1A | c.258A= (p.Glu86=) c.159A= (p.Glu53=) c.76+1235A= (n.76+1235A=) | |
| 1 | g.159304109A>C | CA343059226 | FCER1A | c.258A>C (p.Glu86Asp) c.159A>C (p.Glu53Asp) c.76+1235A>C (n.76+1235A>C) | |
| 1 | g.159304109A>G | CA1187953 | FCER1A | c.258A>G (p.Glu86=) c.159A>G (p.Glu53=) c.76+1235A>G (n.76+1235A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159304109A>T | CA343059229 | FCER1A | c.258A>T (p.Glu86Asp) c.159A>T (p.Glu53Asp) c.76+1235A>T (n.76+1235A>T) | |
| 1 | g.159304110G>A | CA31366329 | FCER1A | c.259G>A (p.Asp87Asn) c.160G>A (p.Asp54Asn) c.76+1236G>A (n.76+1236G>A) | dbSNP |
| 1 | g.159304110G>C | CA343059234 | FCER1A | c.259G>C (p.Asp87His) c.160G>C (p.Asp54His) c.76+1236G>C (n.76+1236G>C) | |
| 1 | g.159304110G= | CA1201831520 | FCER1A | c.259G= (p.Asp87=) c.160G= (p.Asp54=) c.76+1236G= (n.76+1236G=) | |
| 1 | g.159304110G>T | CA343059233 | FCER1A | c.259G>T (p.Asp87Tyr) c.160G>T (p.Asp54Tyr) c.76+1236G>T (n.76+1236G>T) | |
| 1 | g.159304111A= | CA1201831521 | FCER1A | c.260A= (p.Asp87=) c.161A= (p.Asp54=) c.76+1237A= (n.76+1237A=) | |
| 1 | g.159304111A>C | CA343059237 | FCER1A | c.260A>C (p.Asp87Ala) c.161A>C (p.Asp54Ala) c.76+1237A>C (n.76+1237A>C) | |
| 1 | g.159304111A>G | CA343059238 | FCER1A | c.260A>G (p.Asp87Gly) c.161A>G (p.Asp54Gly) c.76+1237A>G (n.76+1237A>G) | dbSNP gnomAD v4 |
| 1 | g.159304111A>T | CA343059240 | FCER1A | c.260A>T (p.Asp87Val) c.161A>T (p.Asp54Val) c.76+1237A>T (n.76+1237A>T) | |
| 1 | g.159304112C>A | CA343059242 | FCER1A | c.261C>A (p.Asp87Glu) c.162C>A (p.Asp54Glu) c.76+1238C>A (n.76+1238C>A) | |
| 1 | g.159304112C= | CA1201831522 | FCER1A | c.261C= (p.Asp87=) c.162C= (p.Asp54=) c.76+1238C= (n.76+1238C=) | |
| 1 | g.159304112C>G | CA343059244 | FCER1A | c.261C>G (p.Asp87Glu) c.162C>G (p.Asp54Glu) c.76+1238C>G (n.76+1238C>G) | |
| 1 | g.159304112C>T | CA421593214 | FCER1A | c.261C>T (p.Asp87=) c.162C>T (p.Asp54=) c.76+1238C>T (n.76+1238C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159304113A= | CA1201831523 | FCER1A | c.262A= (p.Ser88=) c.163A= (p.Ser55=) c.76+1239A= (n.76+1239A=) | |
| 1 | g.159304113A>C | CA343059246 | FCER1A | c.262A>C (p.Ser88Arg) c.163A>C (p.Ser55Arg) c.76+1239A>C (n.76+1239A>C) | |
| 1 | g.159304113A>G | CA343059248 | FCER1A | c.262A>G (p.Ser88Gly) c.163A>G (p.Ser55Gly) c.76+1239A>G (n.76+1239A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159304113A>T | CA343059250 | FCER1A | c.262A>T (p.Ser88Cys) c.163A>T (p.Ser55Cys) c.76+1239A>T (n.76+1239A>T) | |
| 1 | g.159304114G>A | CA343059254 | FCER1A | c.263G>A (p.Ser88Asn) c.164G>A (p.Ser55Asn) c.76+1240G>A (n.76+1240G>A) | gnomAD v4 |
| 1 | g.159304114G>C | CA343059255 | FCER1A | c.263G>C (p.Ser88Thr) c.164G>C (p.Ser55Thr) c.76+1240G>C (n.76+1240G>C) | |
| 1 | g.159304114G>T | CA343059252 | FCER1A | c.263G>T (p.Ser88Ile) c.164G>T (p.Ser55Ile) c.76+1240G>T (n.76+1240G>T) | gnomAD v4 |
| 1 | g.159304115T>A | CA343059256 | FCER1A | c.264T>A (p.Ser88Arg) c.165T>A (p.Ser55Arg) c.76+1241T>A (n.76+1241T>A) | |
| 1 | g.159304115T>C | CA421593218 | FCER1A | c.264T>C (p.Ser88=) c.165T>C (p.Ser55=) c.76+1241T>C (n.76+1241T>C) | |
| 1 | g.159304115T>G | CA343059258 | FCER1A | c.264T>G (p.Ser88Arg) c.165T>G (p.Ser55Arg) c.76+1241T>G (n.76+1241T>G) |