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.173911829A= | CA1142624269 | SERPINC1 | c.594T= (p.Tyr198=) n.299T= c.559+35T= (n.559+35T=) c.450T= (p.Tyr150=) c.675T= (p.Tyr225=) c.409-938T= (n.409-938T=) | |
| 1 | g.173911829A>C | CA343776213 | SERPINC1 | c.594T>G (p.Tyr198Ter) n.299T>G c.559+35T>G (n.559+35T>G) c.450T>G (p.Tyr150Ter) c.675T>G (p.Tyr225Ter) c.409-938T>G (n.409-938T>G) | |
| 1 | g.173911829A>G | CA1251397 | SERPINC1 | c.594T>C (p.Tyr198=) n.299T>C c.559+35T>C (n.559+35T>C) c.450T>C (p.Tyr150=) c.675T>C (p.Tyr225=) c.409-938T>C (n.409-938T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173911829A>T | CA343776215 | SERPINC1 | c.594T>A (p.Tyr198Ter) n.299T>A c.559+35T>A (n.559+35T>A) c.450T>A (p.Tyr150Ter) c.675T>A (p.Tyr225Ter) c.409-938T>A (n.409-938T>A) | |
| 1 | g.173911830T>A | CA343776218 | SERPINC1 | c.593A>T (p.Tyr198Phe) n.298A>T c.559+34A>T (n.559+34A>T) c.449A>T (p.Tyr150Phe) c.674A>T (p.Tyr225Phe) c.409-939A>T (n.409-939A>T) | |
| 1 | g.173911830T>C | CA343776220 | SERPINC1 | c.593A>G (p.Tyr198Cys) n.298A>G c.559+34A>G (n.559+34A>G) c.449A>G (p.Tyr150Cys) c.674A>G (p.Tyr225Cys) c.409-939A>G (n.409-939A>G) | dbSNP gnomAD v2 |
| 1 | g.173911830T>G | CA343776223 | SERPINC1 | c.593A>C (p.Tyr198Ser) n.298A>C c.559+34A>C (n.559+34A>C) c.449A>C (p.Tyr150Ser) c.674A>C (p.Tyr225Ser) c.409-939A>C (n.409-939A>C) | |
| 1 | g.173911830T= | CA1207937796 | SERPINC1 | c.593A= (p.Tyr198=) n.298A= c.559+34A= (n.559+34A=) c.449A= (p.Tyr150=) c.674A= (p.Tyr225=) c.409-939A= (n.409-939A=) | |
| 1 | g.173911831A= | CA1207937797 | SERPINC1 | c.592T= (p.Tyr198=) n.297T= c.559+33T= (n.559+33T=) c.448T= (p.Tyr150=) c.673T= (p.Tyr225=) c.409-940T= (n.409-940T=) | |
| 1 | g.173911831A>C | CA343776225 | SERPINC1 | c.592T>G (p.Tyr198Asp) n.297T>G c.559+33T>G (n.559+33T>G) c.448T>G (p.Tyr150Asp) c.673T>G (p.Tyr225Asp) c.409-940T>G (n.409-940T>G) | |
| 1 | g.173911831A>G | CA343776228 | SERPINC1 | c.592T>C (p.Tyr198His) n.297T>C c.559+33T>C (n.559+33T>C) c.448T>C (p.Tyr150His) c.673T>C (p.Tyr225His) c.409-940T>C (n.409-940T>C) | ClinVar dbSNP |
| 1 | g.173911831A>T | CA343776230 | SERPINC1 | c.592T>A (p.Tyr198Asn) n.297T>A c.559+33T>A (n.559+33T>A) c.448T>A (p.Tyr150Asn) c.673T>A (p.Tyr225Asn) c.409-940T>A (n.409-940T>A) | |
| 1 | g.173911832T>A | CA421822962 | SERPINC1 | c.591A>T (p.Val197=) n.296A>T c.559+32A>T (n.559+32A>T) c.447A>T (p.Val149=) c.672A>T (p.Val224=) c.409-941A>T (n.409-941A>T) | |
| 1 | g.173911832T>C | CA32781271 | SERPINC1 | c.591A>G (p.Val197=) n.296A>G c.559+32A>G (n.559+32A>G) c.447A>G (p.Val149=) c.672A>G (p.Val224=) c.409-941A>G (n.409-941A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173911832T>G | CA421822963 | SERPINC1 | c.591A>C (p.Val197=) n.296A>C c.559+32A>C (n.559+32A>C) c.447A>C (p.Val149=) c.672A>C (p.Val224=) c.409-941A>C (n.409-941A>C) | dbSNP |
| 1 | g.173911832T= | CA1207937798 | SERPINC1 | c.591A= (p.Val197=) n.296A= c.559+32A= (n.559+32A=) c.447A= (p.Val149=) c.672A= (p.Val224=) c.409-941A= (n.409-941A=) | |
| 1 | g.173911833A= | CA1207937799 | SERPINC1 | c.590T= (p.Val197=) n.295T= c.559+31T= (n.559+31T=) c.446T= (p.Val149=) c.671T= (p.Val224=) c.409-942T= (n.409-942T=) | |
| 1 | g.173911833A>C | CA343776232 | SERPINC1 | c.590T>G (p.Val197Gly) n.295T>G c.559+31T>G (n.559+31T>G) c.446T>G (p.Val149Gly) c.671T>G (p.Val224Gly) c.409-942T>G (n.409-942T>G) | |
| 1 | g.173911833A>G | CA343776236 | SERPINC1 | c.590T>C (p.Val197Ala) n.295T>C c.559+31T>C (n.559+31T>C) c.446T>C (p.Val149Ala) c.671T>C (p.Val224Ala) c.409-942T>C (n.409-942T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173911833A>T | CA343776233 | SERPINC1 | c.590T>A (p.Val197Glu) n.295T>A c.559+31T>A (n.559+31T>A) c.446T>A (p.Val149Glu) c.671T>A (p.Val224Glu) c.409-942T>A (n.409-942T>A) | |
| 1 | g.173911834C>A | CA343776239 | SERPINC1 | c.589G>T (p.Val197Leu) n.294G>T c.559+30G>T (n.559+30G>T) c.445G>T (p.Val149Leu) c.670G>T (p.Val224Leu) c.409-943G>T (n.409-943G>T) | |
| 1 | g.173911834C= | CA1207937800 | SERPINC1 | c.589G= (p.Val197=) n.294G= c.559+30G= (n.559+30G=) c.445G= (p.Val149=) c.670G= (p.Val224=) c.409-943G= (n.409-943G=) | |
| 1 | g.173911834C>G | CA1251398 | SERPINC1 | c.589G>C (p.Val197Leu) n.294G>C c.559+30G>C (n.559+30G>C) c.445G>C (p.Val149Leu) c.670G>C (p.Val224Leu) c.409-943G>C (n.409-943G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173911834C>T | CA343776242 | SERPINC1 | c.589G>A (p.Val197Ile) n.294G>A c.559+30G>A (n.559+30G>A) c.445G>A (p.Val149Ile) c.670G>A (p.Val224Ile) c.409-943G>A (n.409-943G>A) | dbSNP gnomAD v4 |
| 1 | g.173911835C>A | CA343776244 | SERPINC1 | c.588G>T (p.Leu196Phe) n.293G>T c.559+29G>T (n.559+29G>T) c.444G>T (p.Leu148Phe) c.669G>T (p.Leu223Phe) c.409-944G>T (n.409-944G>T) | dbSNP |
| 1 | g.173911835C= | CA1207937801 | SERPINC1 | c.588G= (p.Leu196=) n.293G= c.559+29G= (n.559+29G=) c.444G= (p.Leu148=) c.669G= (p.Leu223=) c.409-944G= (n.409-944G=) | |
| 1 | g.173911835C>G | CA343776246 | SERPINC1 | c.588G>C (p.Leu196Phe) n.293G>C c.559+29G>C (n.559+29G>C) c.444G>C (p.Leu148Phe) c.669G>C (p.Leu223Phe) c.409-944G>C (n.409-944G>C) | |
| 1 | g.173911835C>T | CA421822964 | SERPINC1 | c.588G>A (p.Leu196=) n.293G>A c.559+29G>A (n.559+29G>A) c.444G>A (p.Leu148=) c.669G>A (p.Leu223=) c.409-944G>A (n.409-944G>A) | COSMIC |
| 1 | g.173911836A>C | CA343776248 | SERPINC1 | c.587T>G (p.Leu196Trp) n.292T>G c.559+28T>G (n.559+28T>G) c.443T>G (p.Leu148Trp) c.668T>G (p.Leu223Trp) c.409-945T>G (n.409-945T>G) | |
| 1 | g.173911836A>G | CA343776249 | SERPINC1 | c.587T>C (p.Leu196Ser) n.292T>C c.559+28T>C (n.559+28T>C) c.443T>C (p.Leu148Ser) c.668T>C (p.Leu223Ser) c.409-945T>C (n.409-945T>C) | |
| 1 | g.173911836A>T | CA343776250 | SERPINC1 | c.587T>A (p.Leu196Ter) n.292T>A c.559+28T>A (n.559+28T>A) c.443T>A (p.Leu148Ter) c.668T>A (p.Leu223Ter) c.409-945T>A (n.409-945T>A) | |
| 1 | g.173911837A= | CA1207937802 | SERPINC1 | c.586T= (p.Leu196=) n.291T= c.559+27T= (n.559+27T=) c.442T= (p.Leu148=) c.667T= (p.Leu223=) c.409-946T= (n.409-946T=) | |
| 1 | g.173911837A>C | CA343776252 | SERPINC1 | c.586T>G (p.Leu196Val) n.291T>G c.559+27T>G (n.559+27T>G) c.442T>G (p.Leu148Val) c.667T>G (p.Leu223Val) c.409-946T>G (n.409-946T>G) | dbSNP |
| 1 | g.173911837A>G | CA1251399 | SERPINC1 | c.586T>C (p.Leu196=) n.291T>C c.559+27T>C (n.559+27T>C) c.442T>C (p.Leu148=) c.667T>C (p.Leu223=) c.409-946T>C (n.409-946T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173911837A>T | CA343776254 | SERPINC1 | c.586T>A (p.Leu196Met) n.291T>A c.559+27T>A (n.559+27T>A) c.442T>A (p.Leu148Met) c.667T>A (p.Leu223Met) c.409-946T>A (n.409-946T>A) | |
| 1 | g.173911838C>A | CA343776255 | SERPINC1 | c.585G>T (p.Glu195Asp) n.290G>T c.559+26G>T (n.559+26G>T) c.441G>T (p.Glu147Asp) c.666G>T (p.Glu222Asp) c.409-947G>T (n.409-947G>T) | |
| 1 | g.173911838C= | CA1207937803 | SERPINC1 | c.585G= (p.Glu195=) n.290G= c.559+26G= (n.559+26G=) c.441G= (p.Glu147=) c.666G= (p.Glu222=) c.409-947G= (n.409-947G=) | |
| 1 | g.173911838C>G | CA343776257 | SERPINC1 | c.585G>C (p.Glu195Asp) n.290G>C c.559+26G>C (n.559+26G>C) c.441G>C (p.Glu147Asp) c.666G>C (p.Glu222Asp) c.409-947G>C (n.409-947G>C) | |
| 1 | g.173911838C>T | CA421822965 | SERPINC1 | c.585G>A (p.Glu195=) n.290G>A c.559+26G>A (n.559+26G>A) c.441G>A (p.Glu147=) c.666G>A (p.Glu222=) c.409-947G>A (n.409-947G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173911839T>A | CA343776262 | SERPINC1 | c.584A>T (p.Glu195Val) n.289A>T c.559+25A>T (n.559+25A>T) c.440A>T (p.Glu147Val) c.665A>T (p.Glu222Val) c.409-948A>T (n.409-948A>T) | |
| 1 | g.173911839T>C | CA343776259 | SERPINC1 | c.584A>G (p.Glu195Gly) n.289A>G c.559+25A>G (n.559+25A>G) c.440A>G (p.Glu147Gly) c.665A>G (p.Glu222Gly) c.409-948A>G (n.409-948A>G) | |
| 1 | g.173911839T>G | CA343776261 | SERPINC1 | c.584A>C (p.Glu195Ala) n.289A>C c.559+25A>C (n.559+25A>C) c.440A>C (p.Glu147Ala) c.665A>C (p.Glu222Ala) c.409-948A>C (n.409-948A>C) | |
| 1 | g.173911840C>A | CA343776263 | SERPINC1 | c.583G>T (p.Glu195Ter) n.288G>T c.559+24G>T (n.559+24G>T) c.439G>T (p.Glu147Ter) c.664G>T (p.Glu222Ter) c.409-949G>T (n.409-949G>T) | |
| 1 | g.173911840C>G | CA343776265 | SERPINC1 | c.583G>C (p.Glu195Gln) n.288G>C c.559+24G>C (n.559+24G>C) c.439G>C (p.Glu147Gln) c.664G>C (p.Glu222Gln) c.409-949G>C (n.409-949G>C) | |
| 1 | g.173911840C>T | CA343776268 | SERPINC1 | c.583G>A (p.Glu195Lys) n.288G>A c.559+24G>A (n.559+24G>A) c.439G>A (p.Glu147Lys) c.664G>A (p.Glu222Lys) c.409-949G>A (n.409-949G>A) | |
| 1 | g.173911841A>C | CA343776270 | SERPINC1 | c.582T>G (p.Ser194Arg) n.287T>G c.559+23T>G (n.559+23T>G) c.438T>G (p.Ser146Arg) c.663T>G (p.Ser221Arg) c.409-950T>G (n.409-950T>G) | gnomAD v4 |