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.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173910345_173913622del | CA2573051421 | SERPINC1 | c.408+948_763-386del n.113+948_414-386del c.408+948_559+1536del c.264+948_619-386del c.408+948_885+303del c.489+948_844-386del c.408+948_742-386del c.408+948_762+426del c.408+948_547-386del | ClinVar |
| 1 | g.173911379_173915115del | CA2573051422 | SERPINC1 | c.42-196_624+420del c.42-196_559+485del c.-201_480+420del c.123-196_705+420del c.42-196_409-488del | |
| 1 | g.173911749_173917428del | CA1139655524 | ClinVar | ||
| 1 | g.173911885C>A | CA343776458 | SERPINC1 | c.538G>T (p.Gly180Ter) n.243G>T c.394G>T (p.Gly132Ter) c.619G>T (p.Gly207Ter) c.409-994G>T (n.409-994G>T) | |
| 1 | g.173911885C>G | CA343776459 | SERPINC1 | c.538G>C (p.Gly180Arg) n.243G>C c.394G>C (p.Gly132Arg) c.619G>C (p.Gly207Arg) c.409-994G>C (n.409-994G>C) | |
| 1 | g.173911885C>T | CA343776461 | SERPINC1 | c.538G>A (p.Gly180Arg) n.243G>A c.394G>A (p.Gly132Arg) c.619G>A (p.Gly207Arg) c.409-994G>A (n.409-994G>A) | |
| 1 | g.173911886A>C | CA343776462 | SERPINC1 | c.537T>G (p.Phe179Leu) n.242T>G c.393T>G (p.Phe131Leu) c.618T>G (p.Phe206Leu) c.409-995T>G (n.409-995T>G) | |
| 1 | g.173911886A>G | CA421823016 | SERPINC1 | c.537T>C (p.Phe179=) n.242T>C c.393T>C (p.Phe131=) c.618T>C (p.Phe206=) c.409-995T>C (n.409-995T>C) | |
| 1 | g.173911886A>T | CA343776464 | SERPINC1 | c.537T>A (p.Phe179Leu) n.242T>A c.393T>A (p.Phe131Leu) c.618T>A (p.Phe206Leu) c.409-995T>A (n.409-995T>A) | |
| 1 | g.173911887A= | CA1144233211 | SERPINC1 | c.536T= (p.Phe179=) n.241T= c.392T= (p.Phe131=) c.617T= (p.Phe206=) c.409-996T= (n.409-996T=) | |
| 1 | g.173911887A>C | CA343776468 | SERPINC1 | c.536T>G (p.Phe179Cys) n.241T>G c.392T>G (p.Phe131Cys) c.617T>G (p.Phe206Cys) c.409-996T>G (n.409-996T>G) | dbSNP |
| 1 | g.173911887A>G | CA343776467 | SERPINC1 | c.536T>C (p.Phe179Ser) n.241T>C c.392T>C (p.Phe131Ser) c.617T>C (p.Phe206Ser) c.409-996T>C (n.409-996T>C) | ClinVar dbSNP |
| 1 | g.173911887A>T | CA150690 | SERPINC1 | c.536T>A (p.Phe179Tyr) n.241T>A c.392T>A (p.Phe131Tyr) c.617T>A (p.Phe206Tyr) c.409-996T>A (n.409-996T>A) | ClinVar dbSNP |
| 1 | g.173911888A= | CA1207937818 | SERPINC1 | c.535T= (p.Phe179=) n.240T= c.391T= (p.Phe131=) c.616T= (p.Phe206=) c.409-997T= (n.409-997T=) | |
| 1 | g.173911888A>C | CA1251402 | SERPINC1 | c.535T>G (p.Phe179Val) n.240T>G c.391T>G (p.Phe131Val) c.616T>G (p.Phe206Val) c.409-997T>G (n.409-997T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911888A>G | CA343776471 | SERPINC1 | c.535T>C (p.Phe179Leu) n.240T>C c.391T>C (p.Phe131Leu) c.616T>C (p.Phe206Leu) c.409-997T>C (n.409-997T>C) | |
| 1 | g.173911888A>T | CA343776473 | SERPINC1 | c.535T>A (p.Phe179Ile) n.240T>A c.391T>A (p.Phe131Ile) c.616T>A (p.Phe206Ile) c.409-997T>A (n.409-997T>A) | gnomAD v4 |
| 1 | g.173911889A>C | CA421823021 | SERPINC1 | c.534T>G (p.Leu178=) n.239T>G c.390T>G (p.Leu130=) c.615T>G (p.Leu205=) c.409-998T>G (n.409-998T>G) | |
| 1 | g.173911889A>G | CA421823023 | SERPINC1 | c.534T>C (p.Leu178=) n.239T>C c.390T>C (p.Leu130=) c.615T>C (p.Leu205=) c.409-998T>C (n.409-998T>C) | |
| 1 | g.173911889A>T | CA421823024 | SERPINC1 | c.534T>A (p.Leu178=) n.239T>A c.390T>A (p.Leu130=) c.615T>A (p.Leu205=) c.409-998T>A (n.409-998T>A) | |
| 1 | g.173911890A>C | CA343776475 | SERPINC1 | c.533T>G (p.Leu178Arg) n.238T>G c.389T>G (p.Leu130Arg) c.614T>G (p.Leu205Arg) c.409-999T>G (n.409-999T>G) | COSMIC |
| 1 | g.173911890A>G | CA343776476 | SERPINC1 | c.533T>C (p.Leu178Pro) n.238T>C c.389T>C (p.Leu130Pro) c.614T>C (p.Leu205Pro) c.409-999T>C (n.409-999T>C) | |
| 1 | g.173911890A>T | CA343776478 | SERPINC1 | c.533T>A (p.Leu178His) n.238T>A c.389T>A (p.Leu130His) c.614T>A (p.Leu205His) c.409-999T>A (n.409-999T>A) | |
| 1 | g.173911891G>A | CA343776479 | SERPINC1 | c.532C>T (p.Leu178Phe) n.237C>T c.388C>T (p.Leu130Phe) c.613C>T (p.Leu205Phe) c.409-1000C>T (n.409-1000C>T) | gnomAD v4 |
| 1 | g.173911891G>C | CA343776481 | SERPINC1 | c.532C>G (p.Leu178Val) n.237C>G c.388C>G (p.Leu130Val) c.613C>G (p.Leu205Val) c.409-1000C>G (n.409-1000C>G) | |
| 1 | g.173911891G>T | CA343776480 | SERPINC1 | c.532C>A (p.Leu178Ile) n.237C>A c.388C>A (p.Leu130Ile) c.613C>A (p.Leu205Ile) c.409-1000C>A (n.409-1000C>A) | |
| 1 | g.173911892G>A | CA421823028 | SERPINC1 | c.531C>T (p.Arg177=) n.236C>T c.387C>T (p.Arg129=) c.612C>T (p.Arg204=) c.409-1001C>T (n.409-1001C>T) | |
| 1 | g.173911892G>C | CA421823027 | SERPINC1 | c.531C>G (p.Arg177=) n.236C>G c.387C>G (p.Arg129=) c.612C>G (p.Arg204=) c.409-1001C>G (n.409-1001C>G) | |
| 1 | g.173911892G>T | CA421823026 | SERPINC1 | c.531C>A (p.Arg177=) n.236C>A c.387C>A (p.Arg129=) c.612C>A (p.Arg204=) c.409-1001C>A (n.409-1001C>A) | |
| 1 | g.173911893C>A | CA343776483 | SERPINC1 | c.530G>T (p.Arg177Leu) n.235G>T c.386G>T (p.Arg129Leu) c.611G>T (p.Arg204Leu) c.409-1002G>T (n.409-1002G>T) | dbSNP |
| 1 | g.173911893C= | CA1207937819 | SERPINC1 | c.530G= (p.Arg177=) n.235G= c.386G= (p.Arg129=) c.611G= (p.Arg204=) c.409-1002G= (n.409-1002G=) | |
| 1 | g.173911893C>G | CA343776484 | SERPINC1 | c.530G>C (p.Arg177Pro) n.235G>C c.386G>C (p.Arg129Pro) c.611G>C (p.Arg204Pro) c.409-1002G>C (n.409-1002G>C) | |
| 1 | g.173911893C>T | CA10581757 | SERPINC1 | c.530G>A (p.Arg177His) n.235G>A c.386G>A (p.Arg129His) c.611G>A (p.Arg204His) c.409-1002G>A (n.409-1002G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911894G>A | CA1251403 | SERPINC1 | c.529C>T (p.Arg177Cys) n.234C>T c.385C>T (p.Arg129Cys) c.610C>T (p.Arg204Cys) c.409-1003C>T (n.409-1003C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911894G>C | CA343776487 | SERPINC1 | c.529C>G (p.Arg177Gly) n.234C>G c.385C>G (p.Arg129Gly) c.610C>G (p.Arg204Gly) c.409-1003C>G (n.409-1003C>G) | |
| 1 | g.173911894G= | CA1141934734 | SERPINC1 | c.529C= (p.Arg177=) n.234C= c.385C= (p.Arg129=) c.610C= (p.Arg204=) c.409-1003C= (n.409-1003C=) | |
| 1 | g.173911894G>T | CA343776489 | SERPINC1 | c.529C>A (p.Arg177Ser) n.234C>A c.385C>A (p.Arg129Ser) c.610C>A (p.Arg204Ser) c.409-1003C>A (n.409-1003C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911895A= | CA1207937820 | SERPINC1 | c.528T= (p.Asn176=) n.233T= c.384T= (p.Asn128=) c.609T= (p.Asn203=) c.409-1004T= (n.409-1004T=) | |
| 1 | g.173911895A>C | CA343776490 | SERPINC1 | c.528T>G (p.Asn176Lys) n.233T>G c.384T>G (p.Asn128Lys) c.609T>G (p.Asn203Lys) c.409-1004T>G (n.409-1004T>G) | |
| 1 | g.173911895A>G | CA421823032 | SERPINC1 | c.528T>C (p.Asn176=) n.233T>C c.384T>C (p.Asn128=) c.609T>C (p.Asn203=) c.409-1004T>C (n.409-1004T>C) | dbSNP |
| 1 | g.173911895A>T | CA343776492 | SERPINC1 | c.528T>A (p.Asn176Lys) n.233T>A c.384T>A (p.Asn128Lys) c.609T>A (p.Asn203Lys) c.409-1004T>A (n.409-1004T>A) | |
| 1 | g.173911896T>A | CA343776495 | SERPINC1 | c.527A>T (p.Asn176Ile) n.232A>T c.383A>T (p.Asn128Ile) c.608A>T (p.Asn203Ile) c.409-1005A>T (n.409-1005A>T) | |
| 1 | g.173911896T>C | CA343776496 | SERPINC1 | c.527A>G (p.Asn176Ser) n.232A>G c.383A>G (p.Asn128Ser) c.608A>G (p.Asn203Ser) c.409-1005A>G (n.409-1005A>G) | dbSNP |
| 1 | g.173911896T>G | CA343776497 | SERPINC1 | c.527A>C (p.Asn176Thr) n.232A>C c.383A>C (p.Asn128Thr) c.608A>C (p.Asn203Thr) c.409-1005A>C (n.409-1005A>C) | |
| 1 | g.173911896T= | CA1207937821 | SERPINC1 | c.527A= (p.Asn176=) n.232A= c.383A= (p.Asn128=) c.608A= (p.Asn203=) c.409-1005A= (n.409-1005A=) | |
| 1 | g.173911897T>A | CA343776502 | SERPINC1 | c.526A>T (p.Asn176Tyr) n.231A>T c.382A>T (p.Asn128Tyr) c.607A>T (p.Asn203Tyr) c.409-1006A>T (n.409-1006A>T) | |
| 1 | g.173911897T>C | CA343776501 | SERPINC1 | c.526A>G (p.Asn176Asp) n.231A>G c.382A>G (p.Asn128Asp) c.607A>G (p.Asn203Asp) c.409-1006A>G (n.409-1006A>G) | |
| 1 | g.173911897T>G | CA343776499 | SERPINC1 | c.526A>C (p.Asn176His) n.231A>C c.382A>C (p.Asn128His) c.607A>C (p.Asn203His) c.409-1006A>C (n.409-1006A>C) | |
| 1 | g.173911898G>A | CA421823035 | SERPINC1 | c.525C>T (p.Ala175=) n.230C>T c.381C>T (p.Ala127=) c.606C>T (p.Ala202=) c.409-1007C>T (n.409-1007C>T) | ClinVar dbSNP gnomAD v4 |