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 |
|---|---|---|---|---|---|
| 10 | g.49625534C>A | CA376729898 | CHAT | c.814C>A (p.Gln272Lys) c.460C>A (p.Gln154Lys) c.568C>A (p.Gln190Lys) c.*545C>A (n.*545C>A) | ClinVar gnomAD v4 |
| 10 | g.49625534C>G | CA376729901 | CHAT | c.814C>G (p.Gln272Glu) c.460C>G (p.Gln154Glu) c.568C>G (p.Gln190Glu) c.*545C>G (n.*545C>G) | |
| 10 | g.49625534C>T | CA376729904 | CHAT | c.814C>T (p.Gln272Ter) c.460C>T (p.Gln154Ter) c.568C>T (p.Gln190Ter) c.*545C>T (n.*545C>T) | |
| 10 | g.49625535A>C | CA376729908 | CHAT | c.815A>C (p.Gln272Pro) c.461A>C (p.Gln154Pro) c.569A>C (p.Gln190Pro) c.*546A>C (n.*546A>C) | |
| 10 | g.49625535A>G | CA376729911 | CHAT | c.815A>G (p.Gln272Arg) c.461A>G (p.Gln154Arg) c.569A>G (p.Gln190Arg) c.*546A>G (n.*546A>G) | |
| 10 | g.49625535A>T | CA376729914 | CHAT | c.815A>T (p.Gln272Leu) c.461A>T (p.Gln154Leu) c.569A>T (p.Gln190Leu) c.*546A>T (n.*546A>T) | |
| 10 | g.49625536A>C | CA376729917 | CHAT | c.816A>C (p.Gln272His) c.462A>C (p.Gln154His) c.570A>C (p.Gln190His) c.*547A>C (n.*547A>C) | |
| 10 | g.49625536A>G | CA469605084 | CHAT | c.816A>G (p.Gln272=) c.462A>G (p.Gln154=) c.570A>G (p.Gln190=) c.*547A>G (n.*547A>G) | |
| 10 | g.49625536A>T | CA376729919 | CHAT | c.816A>T (p.Gln272His) c.462A>T (p.Gln154His) c.570A>T (p.Gln190His) c.*547A>T (n.*547A>T) | |
| 10 | g.49625537T>A | CA376729923 | CHAT | c.817T>A (p.Tyr273Asn) c.463T>A (p.Tyr155Asn) c.571T>A (p.Tyr191Asn) c.*548T>A (n.*548T>A) | |
| 10 | g.49625537T>C | CA376729925 | CHAT | c.817T>C (p.Tyr273His) c.463T>C (p.Tyr155His) c.571T>C (p.Tyr191His) c.*548T>C (n.*548T>C) | gnomAD v4 |
| 10 | g.49625537T>G | CA376729928 | CHAT | c.817T>G (p.Tyr273Asp) c.463T>G (p.Tyr155Asp) c.571T>G (p.Tyr191Asp) c.*548T>G (n.*548T>G) | |
| 10 | g.49625538A>C | CA376729931 | CHAT | c.818A>C (p.Tyr273Ser) c.464A>C (p.Tyr155Ser) c.572A>C (p.Tyr191Ser) c.*549A>C (n.*549A>C) | |
| 10 | g.49625538A>G | CA376729935 | CHAT | c.818A>G (p.Tyr273Cys) c.464A>G (p.Tyr155Cys) c.572A>G (p.Tyr191Cys) c.*549A>G (n.*549A>G) | ClinVar gnomAD v4 |
| 10 | g.49625538A>T | CA376729932 | CHAT | c.818A>T (p.Tyr273Phe) c.464A>T (p.Tyr155Phe) c.572A>T (p.Tyr191Phe) c.*549A>T (n.*549A>T) | |
| 10 | g.49625539C>A | CA376729939 | CHAT | c.819C>A (p.Tyr273Ter) c.465C>A (p.Tyr155Ter) c.573C>A (p.Tyr191Ter) c.*550C>A (n.*550C>A) | COSMIC COSMIC |
| 10 | g.49625539C= | CA1908821565 | CHAT | c.819C= (p.Tyr273=) c.465C= (p.Tyr155=) c.573C= (p.Tyr191=) c.*550C= (n.*550C=) | |
| 10 | g.49625539C>G | CA376729941 | CHAT | c.819C>G (p.Tyr273Ter) c.465C>G (p.Tyr155Ter) c.573C>G (p.Tyr191Ter) c.*550C>G (n.*550C>G) | |
| 10 | g.49625539C>T | CA469605085 | CHAT | c.819C>T (p.Tyr273=) c.465C>T (p.Tyr155=) c.573C>T (p.Tyr191=) c.*550C>T (n.*550C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49625540T>A | CA376729945 | CHAT | c.820T>A (p.Tyr274Asn) c.466T>A (p.Tyr156Asn) c.574T>A (p.Tyr192Asn) c.*551T>A (n.*551T>A) | |
| 10 | g.49625540T>C | CA376729947 | CHAT | c.820T>C (p.Tyr274His) c.466T>C (p.Tyr156His) c.574T>C (p.Tyr192His) c.*551T>C (n.*551T>C) | |
| 10 | g.49625540T>G | CA5497277 | CHAT | c.820T>G (p.Tyr274Asp) c.466T>G (p.Tyr156Asp) c.574T>G (p.Tyr192Asp) c.*551T>G (n.*551T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49625540T= | CA1908821569 | CHAT | c.820T= (p.Tyr274=) c.466T= (p.Tyr156=) c.574T= (p.Tyr192=) c.*551T= (n.*551T=) | |
| 10 | g.49625540_49625543dup | CA2609144751 | CHAT | c.820_823dup (p.Gly275ValfsTer29) c.466_469dup (p.Gly157ValfsTer29) c.574_577dup (p.Gly193ValfsTer29) c.*551_*554dup (n.*551_*554dup) | gnomAD v4 |
| 10 | g.49625541A>C | CA376729954 | CHAT | c.821A>C (p.Tyr274Ser) c.467A>C (p.Tyr156Ser) c.575A>C (p.Tyr192Ser) c.*552A>C (n.*552A>C) | |
| 10 | g.49625541A>G | CA376729957 | CHAT | c.821A>G (p.Tyr274Cys) c.467A>G (p.Tyr156Cys) c.575A>G (p.Tyr192Cys) c.*552A>G (n.*552A>G) | COSMIC COSMIC |
| 10 | g.49625541A>T | CA376729959 | CHAT | c.821A>T (p.Tyr274Phe) c.467A>T (p.Tyr156Phe) c.575A>T (p.Tyr192Phe) c.*552A>T (n.*552A>T) | |
| 10 | g.49625542T>A | CA376729963 | CHAT | c.822T>A (p.Tyr274Ter) c.468T>A (p.Tyr156Ter) c.576T>A (p.Tyr192Ter) c.*553T>A (n.*553T>A) | |
| 10 | g.49625542T>C | CA469605086 | CHAT | c.822T>C (p.Tyr274=) c.468T>C (p.Tyr156=) c.576T>C (p.Tyr192=) c.*553T>C (n.*553T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49625542T>G | CA376729966 | CHAT | c.822T>G (p.Tyr274Ter) c.468T>G (p.Tyr156Ter) c.576T>G (p.Tyr192Ter) c.*553T>G (n.*553T>G) | |
| 10 | g.49625542T= | CA1908821571 | CHAT | c.822T= (p.Tyr274=) c.468T= (p.Tyr156=) c.576T= (p.Tyr192=) c.*553T= (n.*553T=) | |
| 10 | g.49625543G>A | CA376729972 | CHAT | c.823G>A (p.Gly275Arg) c.469G>A (p.Gly157Arg) c.577G>A (p.Gly193Arg) c.*554G>A (n.*554G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.49625543G>C | CA376729975 | CHAT | c.823G>C (p.Gly275Arg) c.469G>C (p.Gly157Arg) c.577G>C (p.Gly193Arg) c.*554G>C (n.*554G>C) | |
| 10 | g.49625543G= | CA1908821574 | CHAT | c.823G= (p.Gly275=) c.469G= (p.Gly157=) c.577G= (p.Gly193=) c.*554G= (n.*554G=) | |
| 10 | g.49625543G>T | CA376729971 | CHAT | c.823G>T (p.Gly275Trp) c.469G>T (p.Gly157Trp) c.577G>T (p.Gly193Trp) c.*554G>T (n.*554G>T) | |
| 10 | g.49625544G>A | CA376729981 | CHAT | c.824G>A (p.Gly275Glu) c.470G>A (p.Gly157Glu) c.578G>A (p.Gly193Glu) c.*555G>A (n.*555G>A) | gnomAD v4 |
| 10 | g.49625544G>C | CA376729979 | CHAT | c.824G>C (p.Gly275Ala) c.470G>C (p.Gly157Ala) c.578G>C (p.Gly193Ala) c.*555G>C (n.*555G>C) | |
| 10 | g.49625544G>T | CA376729980 | CHAT | c.824G>T (p.Gly275Val) c.470G>T (p.Gly157Val) c.578G>T (p.Gly193Val) c.*555G>T (n.*555G>T) | |
| 10 | g.49625545G>A | CA469605088 | CHAT | c.825G>A (p.Gly275=) c.471G>A (p.Gly157=) c.579G>A (p.Gly193=) c.*556G>A (n.*556G>A) | ClinVar |
| 10 | g.49625545G>C | CA469605087 | CHAT | c.825G>C (p.Gly275=) c.471G>C (p.Gly157=) c.579G>C (p.Gly193=) c.*556G>C (n.*556G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49625545G= | CA1908821576 | CHAT | c.825G= (p.Gly275=) c.471G= (p.Gly157=) c.579G= (p.Gly193=) c.*556G= (n.*556G=) | |
| 10 | g.49625545G>T | CA469605089 | CHAT | c.825G>T (p.Gly275=) c.471G>T (p.Gly157=) c.579G>T (p.Gly193=) c.*556G>T (n.*556G>T) | |
| 10 | g.49625546C>A | CA376729984 | CHAT | c.826C>A (p.Leu276Ile) c.472C>A (p.Leu158Ile) c.580C>A (p.Leu194Ile) c.*557C>A (n.*557C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49625546C= | CA1908821578 | CHAT | c.826C= (p.Leu276=) c.472C= (p.Leu158=) c.580C= (p.Leu194=) c.*557C= (n.*557C=) | |
| 10 | g.49625546C>G | CA376729986 | CHAT | c.826C>G (p.Leu276Val) c.472C>G (p.Leu158Val) c.580C>G (p.Leu194Val) c.*557C>G (n.*557C>G) | |
| 10 | g.49625546C>T | CA376729990 | CHAT | c.826C>T (p.Leu276Phe) c.472C>T (p.Leu158Phe) c.580C>T (p.Leu194Phe) c.*557C>T (n.*557C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49625547T>A | CA376729995 | CHAT | c.827T>A (p.Leu276His) c.473T>A (p.Leu158His) c.581T>A (p.Leu194His) c.*558T>A (n.*558T>A) | |
| 10 | g.49625547T>C | CA376729996 | CHAT | c.827T>C (p.Leu276Pro) c.473T>C (p.Leu158Pro) c.581T>C (p.Leu194Pro) c.*558T>C (n.*558T>C) | |
| 10 | g.49625547T>G | CA376729998 | CHAT | c.827T>G (p.Leu276Arg) c.473T>G (p.Leu158Arg) c.581T>G (p.Leu194Arg) c.*558T>G (n.*558T>G) | |
| 10 | g.49625550_49625552del | CA2609144752 | CHAT | c.830_832del (p.Phe277del) c.476_478del (p.Phe159del) c.584_586del (p.Phe195del) c.*561_*563del (n.*561_*563del) | gnomAD v4 |