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 |
|---|---|---|---|---|---|
| 16 | g.67940284A>C | CA396376010 | LCAT | c.943T>G (p.Trp315Gly) c.156-210T>G c.727T>G (p.Trp243Gly) c.681T>G (n.681T>G) | |
| 16 | g.67940284A>G | CA396376011 | LCAT | c.943T>C (p.Trp315Arg) c.156-210T>C c.727T>C (p.Trp243Arg) c.681T>C (n.681T>C) | gnomAD v4 |
| 16 | g.67940284A>T | CA396376012 | LCAT | c.943T>A (p.Trp315Arg) c.156-210T>A c.727T>A (p.Trp243Arg) c.681T>A (n.681T>A) | |
| 16 | g.67940285G>A | CA496384118 | LCAT | c.942C>T (p.Gly314=) c.156-211C>T c.726C>T (p.Gly242=) c.680C>T (n.680C>T) | dbSNP |
| 16 | g.67940285G>C | CA496384119 | LCAT | c.942C>G (p.Gly314=) c.156-211C>G c.726C>G (p.Gly242=) c.680C>G (n.680C>G) | |
| 16 | g.67940285G= | CA2229563295 | LCAT | c.942C= (p.Gly314=) c.156-211C= c.726C= (p.Gly242=) c.680C= (n.680C=) | |
| 16 | g.67940285G>T | CA496384120 | LCAT | c.942C>A (p.Gly314=) c.156-211C>A c.726C>A (p.Gly242=) c.680C>A (n.680C>A) | |
| 16 | g.67940286C>A | CA396376013 | LCAT | c.941G>T (p.Gly314Val) c.156-212G>T c.725G>T (p.Gly242Val) c.679G>T (n.679G>T) | |
| 16 | g.67940286C>G | CA396376014 | LCAT | c.941G>C (p.Gly314Ala) c.156-212G>C c.725G>C (p.Gly242Ala) c.679G>C (n.679G>C) | |
| 16 | g.67940286C>T | CA396376015 | LCAT | c.941G>A (p.Gly314Asp) c.156-212G>A c.725G>A (p.Gly242Asp) c.679G>A (n.679G>A) | gnomAD v4 |
| 16 | g.67940287C>A | CA396376016 | LCAT | c.940G>T (p.Gly314Cys) c.156-213G>T c.724G>T (p.Gly242Cys) c.678G>T (n.678G>T) | |
| 16 | g.67940287C>G | CA396376017 | LCAT | c.940G>C (p.Gly314Arg) c.156-213G>C c.724G>C (p.Gly242Arg) c.678G>C (n.678G>C) | |
| 16 | g.67940287C>T | CA396376018 | LCAT | c.940G>A (p.Gly314Ser) c.156-213G>A c.724G>A (p.Gly242Ser) c.678G>A (n.678G>A) | |
| 16 | g.67940288T>A | CA396376019 | LCAT | c.939A>T (p.Glu313Asp) c.156-214A>T c.723A>T (p.Glu241Asp) c.677A>T (n.677A>T) | |
| 16 | g.67940288T>C | CA496384121 | LCAT | c.939A>G (p.Glu313=) c.156-214A>G c.723A>G (p.Glu241=) c.677A>G (n.677A>G) | COSMIC |
| 16 | g.67940288T>G | CA396376020 | LCAT | c.939A>C (p.Glu313Asp) c.156-214A>C c.723A>C (p.Glu241Asp) c.677A>C (n.677A>C) | |
| 16 | g.67940289T>A | CA396376023 | LCAT | c.938A>T (p.Glu313Val) c.156-215A>T c.722A>T (p.Glu241Val) c.676A>T (n.676A>T) | |
| 16 | g.67940289T>C | CA396376021 | LCAT | c.938A>G (p.Glu313Gly) c.156-215A>G c.722A>G (p.Glu241Gly) c.676A>G (n.676A>G) | |
| 16 | g.67940289T>G | CA396376022 | LCAT | c.938A>C (p.Glu313Ala) c.156-215A>C c.722A>C (p.Glu241Ala) c.676A>C (n.676A>C) | |
| 16 | g.67940290C>A | CA396376024 | LCAT | c.937G>T (p.Glu313Ter) c.156-216G>T c.721G>T (p.Glu241Ter) c.675G>T (n.675G>T) | |
| 16 | g.67940290C= | CA2229563296 | LCAT | c.937G= (p.Glu313=) c.156-216G= c.721G= (p.Glu241=) c.675G= (n.675G=) | |
| 16 | g.67940290C>G | CA396376025 | LCAT | c.937G>C (p.Glu313Gln) c.156-216G>C c.721G>C (p.Glu241Gln) c.675G>C (n.675G>C) | |
| 16 | g.67940290C>T | CA8120929 | LCAT | c.937G>A (p.Glu313Lys) c.156-216G>A c.721G>A (p.Glu241Lys) c.675G>A (n.675G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67940291C>A | CA396376026 | LCAT | c.936G>T (p.Glu312Asp) c.156-217G>T c.720G>T (p.Glu240Asp) c.674G>T (n.674G>T) | |
| 16 | g.67940291C= | CA2229563297 | LCAT | c.936G= (p.Glu312=) c.156-217G= c.720G= (p.Glu240=) c.674G= (n.674G=) | |
| 16 | g.67940291C>G | CA396376027 | LCAT | c.936G>C (p.Glu312Asp) c.156-217G>C c.720G>C (p.Glu240Asp) c.674G>C (n.674G>C) | |
| 16 | g.67940291C>T | CA8120930 | LCAT | c.936G>A (p.Glu312=) c.156-217G>A c.720G>A (p.Glu240=) c.674G>A (n.674G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67940292T>A | CA396376028 | LCAT | c.935A>T (p.Glu312Val) c.156-218A>T c.719A>T (p.Glu240Val) c.673A>T (n.673A>T) | |
| 16 | g.67940292T>C | CA396376029 | LCAT | c.935A>G (p.Glu312Gly) c.156-218A>G c.719A>G (p.Glu240Gly) c.673A>G (n.673A>G) | gnomAD v4 |
| 16 | g.67940292T>G | CA396376030 | LCAT | c.935A>C (p.Glu312Ala) c.156-218A>C c.719A>C (p.Glu240Ala) c.673A>C (n.673A>C) | |
| 16 | g.67940293C>A | CA396376031 | LCAT | c.934G>T (p.Glu312Ter) c.156-219G>T c.718G>T (p.Glu240Ter) c.672G>T (n.672G>T) | |
| 16 | g.67940293C= | CA2229563298 | LCAT | c.934G= (p.Glu312=) c.156-219G= c.718G= (p.Glu240=) c.672G= (n.672G=) | |
| 16 | g.67940293C>G | CA8120931 | LCAT | c.934G>C (p.Glu312Gln) c.156-219G>C c.718G>C (p.Glu240Gln) c.672G>C (n.672G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67940293C>T | CA396376032 | LCAT | c.934G>A (p.Glu312Lys) c.156-219G>A c.718G>A (p.Glu240Lys) c.672G>A (n.672G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67940293_67940294delinsCA | CA2229563299 | LCAT | c.933_934delinsTG (p.Phe311=) c.156-220_156-219delinsTG c.717_718delinsTG (p.Phe239=) c.671_672delinsTG (n.671_672delinsTG) | |
| 16 | g.67940294A>C | CA396376033 | LCAT | c.933T>G (p.Phe311Leu) c.156-220T>G c.717T>G (p.Phe239Leu) c.671T>G (n.671T>G) | |
| 16 | g.67940294A>G | CA496384122 | LCAT | c.933T>C (p.Phe311=) c.156-220T>C c.717T>C (p.Phe239=) c.671T>C (n.671T>C) | |
| 16 | g.67940294A>T | CA396376034 | LCAT | c.933T>A (p.Phe311Leu) c.156-220T>A c.717T>A (p.Phe239Leu) c.671T>A (n.671T>A) | |
| 16 | g.67940296del | CA723097531 | LCAT | c.933del (p.Phe311LeufsTer?) c.156-220del c.717del (p.Phe239LeufsTer?) c.671del (n.671del) | dbSNP |
| 16 | g.67940295A>C | CA396376037 | LCAT | c.932T>G (p.Phe311Cys) c.156-221T>G c.716T>G (p.Phe239Cys) c.670T>G (n.670T>G) | |
| 16 | g.67940295A>G | CA396376036 | LCAT | c.932T>C (p.Phe311Ser) c.156-221T>C c.716T>C (p.Phe239Ser) c.670T>C (n.670T>C) | |
| 16 | g.67940295A>T | CA396376035 | LCAT | c.932T>A (p.Phe311Tyr) c.156-221T>A c.716T>A (p.Phe239Tyr) c.670T>A (n.670T>A) | |
| 16 | g.67940296A>C | CA396376038 | LCAT | c.931T>G (p.Phe311Val) c.156-222T>G c.715T>G (p.Phe239Val) c.669T>G (n.669T>G) | |
| 16 | g.67940296A>G | CA396376039 | LCAT | c.931T>C (p.Phe311Leu) c.156-222T>C c.715T>C (p.Phe239Leu) c.669T>C (n.669T>C) | |
| 16 | g.67940296A>T | CA396376040 | LCAT | c.931T>A (p.Phe311Ile) c.156-222T>A c.715T>A (p.Phe239Ile) c.669T>A (n.669T>A) | |
| 16 | g.67940297G>A | CA496384123 | LCAT | c.930C>T (p.His310=) c.156-223C>T c.714C>T (p.His238=) c.668C>T (n.668C>T) | COSMIC |
| 16 | g.67940297G>C | CA396376041 | LCAT | c.930C>G (p.His310Gln) c.156-223C>G c.714C>G (p.His238Gln) c.668C>G (n.668C>G) | |
| 16 | g.67940297G>T | CA396376042 | LCAT | c.930C>A (p.His310Gln) c.156-223C>A c.714C>A (p.His238Gln) c.668C>A (n.668C>A) | |
| 16 | g.67940298T>A | CA396376043 | LCAT | c.929A>T (p.His310Leu) c.156-224A>T c.713A>T (p.His238Leu) c.667A>T (n.667A>T) | gnomAD v4 |
| 16 | g.67940298T>C | CA396376044 | LCAT | c.929A>G (p.His310Arg) c.156-224A>G c.713A>G (p.His238Arg) c.667A>G (n.667A>G) | gnomAD v4 |