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.207580286C>A | CA344534858 | CR1 | c.4983C>A (p.Ser1661Arg) c.3633C>A (p.Ser1211Arg) c.1179+14363C>A c.*748C>A (n.*748C>A) c.4998C>A (p.Ser1666Arg) c.3648C>A (p.Ser1216Arg) | dbSNP |
| 1 | g.207580286C>G | CA344534861 | CR1 | c.4983C>G (p.Ser1661Arg) c.3633C>G (p.Ser1211Arg) c.1179+14363C>G c.*748C>G (n.*748C>G) c.4998C>G (p.Ser1666Arg) c.3648C>G (p.Ser1216Arg) | |
| 1 | g.207580286C>T | CA423140232 | CR1 | c.4983C>T (p.Ser1661=) c.3633C>T (p.Ser1211=) c.1179+14363C>T c.*748C>T (n.*748C>T) c.4998C>T (p.Ser1666=) c.3648C>T (p.Ser1216=) | |
| 1 | g.207580287C>A | CA344534864 | CR1 | c.4984C>A (p.His1662Asn) c.3634C>A (p.His1212Asn) c.1179+14364C>A c.*749C>A (n.*749C>A) c.4999C>A (p.His1667Asn) c.3649C>A (p.His1217Asn) | dbSNP |
| 1 | g.207580287C= | CA2483443657 | CR1 | c.4984C= (p.His1662=) c.3634C= (p.His1212=) c.1179+14364C= c.*749C= (n.*749C=) c.4999C= (p.His1667=) c.3649C= (p.His1217=) | |
| 1 | g.207580287C>G | CA344534867 | CR1 | c.4984C>G (p.His1662Asp) c.3634C>G (p.His1212Asp) c.1179+14364C>G c.*749C>G (n.*749C>G) c.4999C>G (p.His1667Asp) c.3649C>G (p.His1217Asp) | |
| 1 | g.207580287C>T | CA344534870 | CR1 | c.4984C>T (p.His1662Tyr) c.3634C>T (p.His1212Tyr) c.1179+14364C>T c.*749C>T (n.*749C>T) c.4999C>T (p.His1667Tyr) c.3649C>T (p.His1217Tyr) | |
| 1 | g.207580288A>C | CA344534880 | CR1 | c.4985A>C (p.His1662Pro) c.3635A>C (p.His1212Pro) c.1179+14365A>C c.*750A>C (n.*750A>C) c.5000A>C (p.His1667Pro) c.3650A>C (p.His1217Pro) | gnomAD v4 |
| 1 | g.207580288A>G | CA344534885 | CR1 | c.4985A>G (p.His1662Arg) c.3635A>G (p.His1212Arg) c.1179+14365A>G c.*750A>G (n.*750A>G) c.5000A>G (p.His1667Arg) c.3650A>G (p.His1217Arg) | |
| 1 | g.207580288A>T | CA344534888 | CR1 | c.4985A>T (p.His1662Leu) c.3635A>T (p.His1212Leu) c.1179+14365A>T c.*750A>T (n.*750A>T) c.5000A>T (p.His1667Leu) c.3650A>T (p.His1217Leu) | |
| 1 | g.207580289T>A | CA344534894 | CR1 | c.4986T>A (p.His1662Gln) c.3636T>A (p.His1212Gln) c.1179+14366T>A c.*751T>A (n.*751T>A) c.5001T>A (p.His1667Gln) c.3651T>A (p.His1217Gln) | |
| 1 | g.207580289T>C | CA423140234 | CR1 | c.4986T>C (p.His1662=) c.3636T>C (p.His1212=) c.1179+14366T>C c.*751T>C (n.*751T>C) c.5001T>C (p.His1667=) c.3651T>C (p.His1217=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207580289T>G | CA344534891 | CR1 | c.4986T>G (p.His1662Gln) c.3636T>G (p.His1212Gln) c.1179+14366T>G c.*751T>G (n.*751T>G) c.5001T>G (p.His1667Gln) c.3651T>G (p.His1217Gln) | |
| 1 | g.207580289T= | CA2483443658 | CR1 | c.4986T= (p.His1662=) c.3636T= (p.His1212=) c.1179+14366T= c.*751T= (n.*751T=) c.5001T= (p.His1667=) c.3651T= (p.His1217=) | |
| 1 | g.207580290C>A | CA344534898 | CR1 | c.4987C>A (p.Gln1663Lys) c.3637C>A (p.Gln1213Lys) c.1179+14367C>A c.*752C>A (n.*752C>A) c.5002C>A (p.Gln1668Lys) c.3652C>A (p.Gln1218Lys) | |
| 1 | g.207580290C>G | CA344534903 | CR1 | c.4987C>G (p.Gln1663Glu) c.3637C>G (p.Gln1213Glu) c.1179+14367C>G c.*752C>G (n.*752C>G) c.5002C>G (p.Gln1668Glu) c.3652C>G (p.Gln1218Glu) | |
| 1 | g.207580290C>T | CA344534905 | CR1 | c.4987C>T (p.Gln1663Ter) c.3637C>T (p.Gln1213Ter) c.1179+14367C>T c.*752C>T (n.*752C>T) c.5002C>T (p.Gln1668Ter) c.3652C>T (p.Gln1218Ter) | |
| 1 | g.207580291del | CA2650268375 | CR1 | c.4988del (p.Gln1663ArgfsTer?) c.3638del (p.Gln1213ArgfsTer?) c.1179+14368del c.*753del (n.*753del) c.5003del (p.Gln1668ArgfsTer?) c.3653del (p.Gln1218ArgfsTer?) | gnomAD v4 |
| 1 | g.207580291A>C | CA344534910 | CR1 | c.4988A>C (p.Gln1663Pro) c.3638A>C (p.Gln1213Pro) c.1179+14368A>C c.*753A>C (n.*753A>C) c.5003A>C (p.Gln1668Pro) c.3653A>C (p.Gln1218Pro) | |
| 1 | g.207580291A>G | CA344534913 | CR1 | c.4988A>G (p.Gln1663Arg) c.3638A>G (p.Gln1213Arg) c.1179+14368A>G c.*753A>G (n.*753A>G) c.5003A>G (p.Gln1668Arg) c.3653A>G (p.Gln1218Arg) | gnomAD v4 |
| 1 | g.207580291A>T | CA344534916 | CR1 | c.4988A>T (p.Gln1663Leu) c.3638A>T (p.Gln1213Leu) c.1179+14368A>T c.*753A>T (n.*753A>T) c.5003A>T (p.Gln1668Leu) c.3653A>T (p.Gln1218Leu) | |
| 1 | g.207580292G>A | CA423140236 | CR1 | c.4989G>A (p.Gln1663=) c.3639G>A (p.Gln1213=) c.1179+14369G>A c.*754G>A (n.*754G>A) c.5004G>A (p.Gln1668=) c.3654G>A (p.Gln1218=) | |
| 1 | g.207580292G>C | CA344534919 | CR1 | c.4989G>C (p.Gln1663His) c.3639G>C (p.Gln1213His) c.1179+14369G>C c.*754G>C (n.*754G>C) c.5004G>C (p.Gln1668His) c.3654G>C (p.Gln1218His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207580292G= | CA2483443659 | CR1 | c.4989G= (p.Gln1663=) c.3639G= (p.Gln1213=) c.1179+14369G= c.*754G= (n.*754G=) c.5004G= (p.Gln1668=) c.3654G= (p.Gln1218=) | |
| 1 | g.207580292G>T | CA344534922 | CR1 | c.4989G>T (p.Gln1663His) c.3639G>T (p.Gln1213His) c.1179+14369G>T c.*754G>T (n.*754G>T) c.5004G>T (p.Gln1668His) c.3654G>T (p.Gln1218His) | |
| 1 | g.207580293G>A | CA344534925 | CR1 | c.4990G>A (p.Asp1664Asn) c.3640G>A (p.Asp1214Asn) c.1179+14370G>A c.*755G>A (n.*755G>A) c.5005G>A (p.Asp1669Asn) c.3655G>A (p.Asp1219Asn) | dbSNP |
| 1 | g.207580293G>C | CA344534934 | CR1 | c.4990G>C (p.Asp1664His) c.3640G>C (p.Asp1214His) c.1179+14370G>C c.*755G>C (n.*755G>C) c.5005G>C (p.Asp1669His) c.3655G>C (p.Asp1219His) | |
| 1 | g.207580293G= | CA2483443660 | CR1 | c.4990G= (p.Asp1664=) c.3640G= (p.Asp1214=) c.1179+14370G= c.*755G= (n.*755G=) c.5005G= (p.Asp1669=) c.3655G= (p.Asp1219=) | |
| 1 | g.207580293G>T | CA344534936 | CR1 | c.4990G>T (p.Asp1664Tyr) c.3640G>T (p.Asp1214Tyr) c.1179+14370G>T c.*755G>T (n.*755G>T) c.5005G>T (p.Asp1669Tyr) c.3655G>T (p.Asp1219Tyr) | |
| 1 | g.207580294A>C | CA344534940 | CR1 | c.4991A>C (p.Asp1664Ala) c.3641A>C (p.Asp1214Ala) c.1179+14371A>C c.*756A>C (n.*756A>C) c.5006A>C (p.Asp1669Ala) c.3656A>C (p.Asp1219Ala) | |
| 1 | g.207580294A>G | CA344534945 | CR1 | c.4991A>G (p.Asp1664Gly) c.3641A>G (p.Asp1214Gly) c.1179+14371A>G c.*756A>G (n.*756A>G) c.5006A>G (p.Asp1669Gly) c.3656A>G (p.Asp1219Gly) | |
| 1 | g.207580294A>T | CA344534949 | CR1 | c.4991A>T (p.Asp1664Val) c.3641A>T (p.Asp1214Val) c.1179+14371A>T c.*756A>T (n.*756A>T) c.5006A>T (p.Asp1669Val) c.3656A>T (p.Asp1219Val) | |
| 1 | g.207580295C>A | CA344534953 | CR1 | c.4992C>A (p.Asp1664Glu) c.3642C>A (p.Asp1214Glu) c.1179+14372C>A c.*757C>A (n.*757C>A) c.5007C>A (p.Asp1669Glu) c.3657C>A (p.Asp1219Glu) | |
| 1 | g.207580295C= | CA2483443661 | CR1 | c.4992C= (p.Asp1664=) c.3642C= (p.Asp1214=) c.1179+14372C= c.*757C= (n.*757C=) c.5007C= (p.Asp1669=) c.3657C= (p.Asp1219=) | |
| 1 | g.207580295C>G | CA344534957 | CR1 | c.4992C>G (p.Asp1664Glu) c.3642C>G (p.Asp1214Glu) c.1179+14372C>G c.*757C>G (n.*757C>G) c.5007C>G (p.Asp1669Glu) c.3657C>G (p.Asp1219Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207580295C>T | CA423140238 | CR1 | c.4992C>T (p.Asp1664=) c.3642C>T (p.Asp1214=) c.1179+14372C>T c.*757C>T (n.*757C>T) c.5007C>T (p.Asp1669=) c.3657C>T (p.Asp1219=) | |
| 1 | g.207580296A>C | CA344534962 | CR1 | c.4993A>C (p.Asn1665His) c.3643A>C (p.Asn1215His) c.1179+14373A>C c.*758A>C (n.*758A>C) c.5008A>C (p.Asn1670His) c.3658A>C (p.Asn1220His) | |
| 1 | g.207580296A>G | CA344534968 | CR1 | c.4993A>G (p.Asn1665Asp) c.3643A>G (p.Asn1215Asp) c.1179+14373A>G c.*758A>G (n.*758A>G) c.5008A>G (p.Asn1670Asp) c.3658A>G (p.Asn1220Asp) | |
| 1 | g.207580296A>T | CA344534965 | CR1 | c.4993A>T (p.Asn1665Tyr) c.3643A>T (p.Asn1215Tyr) c.1179+14373A>T c.*758A>T (n.*758A>T) c.5008A>T (p.Asn1670Tyr) c.3658A>T (p.Asn1220Tyr) | |
| 1 | g.207580297A>C | CA344534971 | CR1 | c.4994A>C (p.Asn1665Thr) c.3644A>C (p.Asn1215Thr) c.1179+14374A>C c.*759A>C (n.*759A>C) c.5009A>C (p.Asn1670Thr) c.3659A>C (p.Asn1220Thr) | |
| 1 | g.207580297A>G | CA344534974 | CR1 | c.4994A>G (p.Asn1665Ser) c.3644A>G (p.Asn1215Ser) c.1179+14374A>G c.*759A>G (n.*759A>G) c.5009A>G (p.Asn1670Ser) c.3659A>G (p.Asn1220Ser) | |
| 1 | g.207580297A>T | CA344534978 | CR1 | c.4994A>T (p.Asn1665Ile) c.3644A>T (p.Asn1215Ile) c.1179+14374A>T c.*759A>T (n.*759A>T) c.5009A>T (p.Asn1670Ile) c.3659A>T (p.Asn1220Ile) | |
| 1 | g.207580298C>A | CA1370011 | CR1 | c.4995C>A (p.Asn1665Lys) c.3645C>A (p.Asn1215Lys) c.1179+14375C>A c.*760C>A (n.*760C>A) c.5010C>A (p.Asn1670Lys) c.3660C>A (p.Asn1220Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207580298C= | CA1141837493 | CR1 | c.4995C= (p.Asn1665=) c.3645C= (p.Asn1215=) c.1179+14375C= c.*760C= (n.*760C=) c.5010C= (p.Asn1670=) c.3660C= (p.Asn1220=) | |
| 1 | g.207580298C>G | CA344534984 | CR1 | c.4995C>G (p.Asn1665Lys) c.3645C>G (p.Asn1215Lys) c.1179+14375C>G c.*760C>G (n.*760C>G) c.5010C>G (p.Asn1670Lys) c.3660C>G (p.Asn1220Lys) | |
| 1 | g.207580298C>T | CA423140239 | CR1 | c.4995C>T (p.Asn1665=) c.3645C>T (p.Asn1215=) c.1179+14375C>T c.*760C>T (n.*760C>T) c.5010C>T (p.Asn1670=) c.3660C>T (p.Asn1220=) | |
| 1 | g.207580299T>A | CA344534989 | CR1 | c.4996T>A (p.Phe1666Ile) c.3646T>A (p.Phe1216Ile) c.1179+14376T>A c.*761T>A (n.*761T>A) c.5011T>A (p.Phe1671Ile) c.3661T>A (p.Phe1221Ile) | |
| 1 | g.207580299T>C | CA344534991 | CR1 | c.4996T>C (p.Phe1666Leu) c.3646T>C (p.Phe1216Leu) c.1179+14376T>C c.*761T>C (n.*761T>C) c.5011T>C (p.Phe1671Leu) c.3661T>C (p.Phe1221Leu) | |
| 1 | g.207580299T>G | CA344534996 | CR1 | c.4996T>G (p.Phe1666Val) c.3646T>G (p.Phe1216Val) c.1179+14376T>G c.*761T>G (n.*761T>G) c.5011T>G (p.Phe1671Val) c.3661T>G (p.Phe1221Val) | |
| 1 | g.207580300T>A | CA344534999 | CR1 | c.4997T>A (p.Phe1666Tyr) c.3647T>A (p.Phe1216Tyr) c.1179+14377T>A c.*762T>A (n.*762T>A) c.5012T>A (p.Phe1671Tyr) c.3662T>A (p.Phe1221Tyr) |