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.67940273C>A | CA396375981 | LCAT | c.954G>T (p.Trp318Cys) c.156-199G>T c.738G>T (p.Trp246Cys) c.692G>T (n.692G>T) | |
| 16 | g.67940273C>G | CA396375982 | LCAT | c.954G>C (p.Trp318Cys) c.156-199G>C c.738G>C (p.Trp246Cys) c.692G>C (n.692G>C) | |
| 16 | g.67940273C>T | CA396375983 | LCAT | c.954G>A (p.Trp318Ter) c.156-199G>A c.738G>A (p.Trp246Ter) c.692G>A (n.692G>A) | |
| 16 | g.67940274C>A | CA396375984 | LCAT | c.953G>T (p.Trp318Leu) c.156-200G>T c.737G>T (p.Trp246Leu) c.691G>T (n.691G>T) | |
| 16 | g.67940274C>G | CA396375985 | LCAT | c.953G>C (p.Trp318Ser) c.156-200G>C c.737G>C (p.Trp246Ser) c.691G>C (n.691G>C) | |
| 16 | g.67940274C>T | CA396375986 | LCAT | c.953G>A (p.Trp318Ter) c.156-200G>A c.737G>A (p.Trp246Ter) c.691G>A (n.691G>A) | |
| 16 | g.67940275A>C | CA396375987 | LCAT | c.952T>G (p.Trp318Gly) c.156-201T>G c.736T>G (p.Trp246Gly) c.690T>G (n.690T>G) | |
| 16 | g.67940275A>G | CA396375988 | LCAT | c.952T>C (p.Trp318Arg) c.156-201T>C c.736T>C (p.Trp246Arg) c.690T>C (n.690T>C) | |
| 16 | g.67940275A>T | CA396375989 | LCAT | c.952T>A (p.Trp318Arg) c.156-201T>A c.736T>A (p.Trp246Arg) c.690T>A (n.690T>A) | |
| 16 | g.67940276C>A | CA396375990 | LCAT | c.951G>T (p.Met317Ile) c.156-202G>T c.735G>T (p.Met245Ile) c.689G>T (n.689G>T) | |
| 16 | g.67940276C= | CA2229563291 | LCAT | c.951G= (p.Met317=) c.156-202G= c.735G= (p.Met245=) c.689G= (n.689G=) | |
| 16 | g.67940276C>G | CA396375991 | LCAT | c.951G>C (p.Met317Ile) c.156-202G>C c.735G>C (p.Met245Ile) c.689G>C (n.689G>C) | |
| 16 | g.67940276C>T | CA116414 | LCAT | c.951G>A (p.Met317Ile) c.156-202G>A c.735G>A (p.Met245Ile) c.689G>A (n.689G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.67940277A= | CA2229563292 | LCAT | c.950T= (p.Met317=) c.156-203T= c.734T= (p.Met245=) c.688T= (n.688T=) | |
| 16 | g.67940277A>C | CA8120927 | LCAT | c.950T>G (p.Met317Arg) c.156-203T>G c.734T>G (p.Met245Arg) c.688T>G (n.688T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67940277A>G | CA396375993 | LCAT | c.950T>C (p.Met317Thr) c.156-203T>C c.734T>C (p.Met245Thr) c.688T>C (n.688T>C) | gnomAD v4 |
| 16 | g.67940277A>T | CA396375992 | LCAT | c.950T>A (p.Met317Lys) c.156-203T>A c.734T>A (p.Met245Lys) c.688T>A (n.688T>A) | |
| 16 | g.67940278T>A | CA396375994 | LCAT | c.949A>T (p.Met317Leu) c.156-204A>T c.733A>T (p.Met245Leu) c.687A>T (n.687A>T) | |
| 16 | g.67940278T>C | CA396375995 | LCAT | c.949A>G (p.Met317Val) c.156-204A>G c.733A>G (p.Met245Val) c.687A>G (n.687A>G) | gnomAD v4 |
| 16 | g.67940278T>G | CA8120928 | LCAT | c.949A>C (p.Met317Leu) c.156-204A>C c.733A>C (p.Met245Leu) c.687A>C (n.687A>C) | dbSNP ExAC gnomAD v2 |
| 16 | g.67940278T= | CA2229563293 | LCAT | c.949A= (p.Met317=) c.156-204A= c.733A= (p.Met245=) c.687A= (n.687A=) | |
| 16 | g.67940279G>A | CA496384117 | LCAT | c.948C>T (p.Tyr316=) c.156-205C>T c.732C>T (p.Tyr244=) c.686C>T (n.686C>T) | gnomAD v4 |
| 16 | g.67940279G>C | CA396375996 | LCAT | c.948C>G (p.Tyr316Ter) c.156-205C>G c.732C>G (p.Tyr244Ter) c.686C>G (n.686C>G) | |
| 16 | g.67940279G>T | CA396375997 | LCAT | c.948C>A (p.Tyr316Ter) c.156-205C>A c.732C>A (p.Tyr244Ter) c.686C>A (n.686C>A) | |
| 16 | g.67940280T>A | CA396376000 | LCAT | c.947A>T (p.Tyr316Phe) c.156-206A>T c.731A>T (p.Tyr244Phe) c.685A>T (n.685A>T) | |
| 16 | g.67940280T>C | CA396375999 | LCAT | c.947A>G (p.Tyr316Cys) c.156-206A>G c.731A>G (p.Tyr244Cys) c.685A>G (n.685A>G) | |
| 16 | g.67940280T>G | CA396375998 | LCAT | c.947A>C (p.Tyr316Ser) c.156-206A>C c.731A>C (p.Tyr244Ser) c.685A>C (n.685A>C) | |
| 16 | g.67940281A>C | CA396376001 | LCAT | c.946T>G (p.Tyr316Asp) c.156-207T>G c.730T>G (p.Tyr244Asp) c.684T>G (n.684T>G) | |
| 16 | g.67940281A>G | CA396376002 | LCAT | c.946T>C (p.Tyr316His) c.156-207T>C c.730T>C (p.Tyr244His) c.684T>C (n.684T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.67940281A>T | CA396376003 | LCAT | c.946T>A (p.Tyr316Asn) c.156-207T>A c.730T>A (p.Tyr244Asn) c.684T>A (n.684T>A) | |
| 16 | g.67940282C>A | CA396376004 | LCAT | c.945G>T (p.Trp315Cys) c.156-208G>T c.729G>T (p.Trp243Cys) c.683G>T (n.683G>T) | |
| 16 | g.67940282C>G | CA396376005 | LCAT | c.945G>C (p.Trp315Cys) c.156-208G>C c.729G>C (p.Trp243Cys) c.683G>C (n.683G>C) | |
| 16 | g.67940282C>T | CA396376006 | LCAT | c.945G>A (p.Trp315Ter) c.156-208G>A c.729G>A (p.Trp243Ter) c.683G>A (n.683G>A) | |
| 16 | g.67940283C>A | CA396376007 | LCAT | c.944G>T (p.Trp315Leu) c.156-209G>T c.728G>T (p.Trp243Leu) c.682G>T (n.682G>T) | |
| 16 | g.67940283C= | CA2229563294 | LCAT | c.944G= (p.Trp315=) c.156-209G= c.728G= (p.Trp243=) c.682G= (n.682G=) | |
| 16 | g.67940283C>G | CA396376009 | LCAT | c.944G>C (p.Trp315Ser) c.156-209G>C c.728G>C (p.Trp243Ser) c.682G>C (n.682G>C) | dbSNP |
| 16 | g.67940283C>T | CA396376008 | LCAT | c.944G>A (p.Trp315Ter) c.156-209G>A c.728G>A (p.Trp243Ter) c.682G>A (n.682G>A) | |
| 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) |