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 |
|---|---|---|---|---|---|
| 2 | g.38071156_38071161del | CA2586969068 | CYP1B1 | c.1195_1200del (p.Ile399_Pro400del) n.573_578del c.82_87del (p.Ile28_Pro29del) | |
| 2 | g.38071157A>C | CA346327657 | CYP1B1 | c.1197T>G (p.Ile399Met) n.575T>G c.84T>G (p.Ile28Met) | |
| 2 | g.38071157A>G | CA425864596 | CYP1B1 | c.1197T>C (p.Ile399=) n.575T>C c.84T>C (p.Ile28=) | |
| 2 | g.38071157A>T | CA425864595 | CYP1B1 | c.1197T>A (p.Ile399=) n.575T>A c.84T>A (p.Ile28=) | |
| 2 | g.38071158A= | CA1245626152 | CYP1B1 | c.1196T= (p.Ile399=) n.574T= c.83T= (p.Ile28=) | |
| 2 | g.38071158A>C | CA45506514 | CYP1B1 | c.1196T>G (p.Ile399Ser) n.574T>G c.83T>G (p.Ile28Ser) | dbSNP |
| 2 | g.38071158A>G | CA346327658 | CYP1B1 | c.1196T>C (p.Ile399Thr) n.574T>C c.83T>C (p.Ile28Thr) | |
| 2 | g.38071158A>T | CA346327659 | CYP1B1 | c.1196T>A (p.Ile399Asn) n.574T>A c.83T>A (p.Ile28Asn) | |
| 2 | g.38071159T>A | CA346327661 | CYP1B1 | c.1195A>T (p.Ile399Phe) n.573A>T c.82A>T (p.Ile28Phe) | |
| 2 | g.38071159T>C | CA1619839 | CYP1B1 | c.1195A>G (p.Ile399Val) n.573A>G c.82A>G (p.Ile28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071159T>G | CA346327660 | CYP1B1 | c.1195A>C (p.Ile399Leu) n.573A>C c.82A>C (p.Ile28Leu) | |
| 2 | g.38071159T= | CA1245626153 | CYP1B1 | c.1195A= (p.Ile399=) n.573A= c.82A= (p.Ile28=) | |
| 2 | g.38071160A= | CA1245626154 | CYP1B1 | c.1194T= (p.Thr398=) n.572T= c.81T= (p.Thr27=) | |
| 2 | g.38071160A>C | CA425864599 | CYP1B1 | c.1194T>G (p.Thr398=) n.572T>G c.81T>G (p.Thr27=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.38071160A>G | CA425864601 | CYP1B1 | c.1194T>C (p.Thr398=) n.572T>C c.81T>C (p.Thr27=) | |
| 2 | g.38071160A>T | CA425864600 | CYP1B1 | c.1194T>A (p.Thr398=) n.572T>A c.81T>A (p.Thr27=) | |
| 2 | g.38071161G>A | CA346327662 | CYP1B1 | c.1193C>T (p.Thr398Ile) n.571C>T c.80C>T (p.Thr27Ile) | dbSNP |
| 2 | g.38071161G>C | CA346327663 | CYP1B1 | c.1193C>G (p.Thr398Ser) n.571C>G c.80C>G (p.Thr27Ser) | gnomAD v4 |
| 2 | g.38071161G= | CA1245626155 | CYP1B1 | c.1193C= (p.Thr398=) n.571C= c.80C= (p.Thr27=) | |
| 2 | g.38071161G>T | CA346327664 | CYP1B1 | c.1193C>A (p.Thr398Asn) n.571C>A c.80C>A (p.Thr27Asn) | |
| 2 | g.38071162T>A | CA346327665 | CYP1B1 | c.1192A>T (p.Thr398Ser) n.570A>T c.79A>T (p.Thr27Ser) | |
| 2 | g.38071162T>C | CA346327666 | CYP1B1 | c.1192A>G (p.Thr398Ala) n.570A>G c.79A>G (p.Thr27Ala) | |
| 2 | g.38071162T>G | CA346327667 | CYP1B1 | c.1192A>C (p.Thr398Pro) n.570A>C c.79A>C (p.Thr27Pro) | |
| 2 | g.38071163G>A | CA425864602 | CYP1B1 | c.1191C>T (p.Val397=) n.569C>T c.78C>T (p.Val26=) | ClinVar |
| 2 | g.38071163G>C | CA425864603 | CYP1B1 | c.1191C>G (p.Val397=) n.569C>G c.78C>G (p.Val26=) | |
| 2 | g.38071163G>T | CA425864604 | CYP1B1 | c.1191C>A (p.Val397=) n.569C>A c.78C>A (p.Val26=) | |
| 2 | g.38071164A= | CA1245626156 | CYP1B1 | c.1190T= (p.Val397=) n.568T= c.77T= (p.Val26=) | |
| 2 | g.38071164A>C | CA346327668 | CYP1B1 | c.1190T>G (p.Val397Gly) n.568T>G c.77T>G (p.Val26Gly) | |
| 2 | g.38071164A>G | CA346327669 | CYP1B1 | c.1190T>C (p.Val397Ala) n.568T>C c.77T>C (p.Val26Ala) | |
| 2 | g.38071164A>T | CA1619840 | CYP1B1 | c.1190T>A (p.Val397Asp) n.568T>A c.77T>A (p.Val26Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071165C>A | CA346327670 | CYP1B1 | c.1189G>T (p.Val397Phe) n.567G>T c.76G>T (p.Val26Phe) | |
| 2 | g.38071165C= | CA1245626157 | CYP1B1 | c.1189G= (p.Val397=) n.567G= c.76G= (p.Val26=) | |
| 2 | g.38071165C>G | CA346327671 | CYP1B1 | c.1189G>C (p.Val397Leu) n.567G>C c.76G>C (p.Val26Leu) | dbSNP gnomAD v4 |
| 2 | g.38071165C>T | CA346327672 | CYP1B1 | c.1189G>A (p.Val397Ile) n.567G>A c.76G>A (p.Val26Ile) | |
| 2 | g.38071166A>C | CA425864608 | CYP1B1 | c.1188T>G (p.Pro396=) n.566T>G c.75T>G (p.Pro25=) | |
| 2 | g.38071166A>G | CA425864609 | CYP1B1 | c.1188T>C (p.Pro396=) n.566T>C c.75T>C (p.Pro25=) | |
| 2 | g.38071166A>T | CA425864610 | CYP1B1 | c.1188T>A (p.Pro396=) n.566T>A c.75T>A (p.Pro25=) | |
| 2 | g.38071166_38071167del | CA2658667731 | CYP1B1 | c.1187_1188del (p.Pro396ArgfsTer?) n.565_566del c.74_75del (p.Pro25ArgfsTer?) | gnomAD v4 |
| 2 | g.38071167G>A | CA346327675 | CYP1B1 | c.1187C>T (p.Pro396Leu) n.565C>T c.74C>T (p.Pro25Leu) | |
| 2 | g.38071167G>C | CA346327674 | CYP1B1 | c.1187C>G (p.Pro396Arg) n.565C>G c.74C>G (p.Pro25Arg) | |
| 2 | g.38071167G>T | CA346327673 | CYP1B1 | c.1187C>A (p.Pro396His) n.565C>A c.74C>A (p.Pro25His) | gnomAD v4 |
| 2 | g.38071168G>A | CA346327676 | CYP1B1 | c.1186C>T (p.Pro396Ser) n.564C>T c.73C>T (p.Pro25Ser) | gnomAD v4 |
| 2 | g.38071168G>C | CA346327677 | CYP1B1 | c.1186C>G (p.Pro396Ala) n.564C>G c.73C>G (p.Pro25Ala) | |
| 2 | g.38071168G>T | CA346327678 | CYP1B1 | c.1186C>A (p.Pro396Thr) n.564C>A c.73C>A (p.Pro25Thr) | gnomAD v4 |
| 2 | g.38071169C>A | CA425864613 | CYP1B1 | c.1185G>T (p.Val395=) n.563G>T c.72G>T (p.Val24=) | ClinVar dbSNP |
| 2 | g.38071169C= | CA1245626158 | CYP1B1 | c.1185G= (p.Val395=) n.563G= c.72G= (p.Val24=) | |
| 2 | g.38071169C>G | CA425864615 | CYP1B1 | c.1185G>C (p.Val395=) n.563G>C c.72G>C (p.Val24=) | |
| 2 | g.38071169C>T | CA425864616 | CYP1B1 | c.1185G>A (p.Val395=) n.563G>A c.72G>A (p.Val24=) | |
| 2 | g.38071170A= | CA1245626159 | CYP1B1 | c.1184T= (p.Val395=) n.562T= c.71T= (p.Val24=) | |
| 2 | g.38071170A>C | CA346327679 | CYP1B1 | c.1184T>G (p.Val395Gly) n.562T>G c.71T>G (p.Val24Gly) |