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 |
|---|---|---|---|---|---|
| 14 | g.94378628C>A | CA390847830 | SERPINA1 | c.1078G>T (p.Ala360Ser) c.*377G>T (n.*377G>T) | dbSNP |
| 14 | g.94378628C= | CA2155953474 | SERPINA1 | c.1078G= (p.Ala360=) c.*377G= (n.*377G=) | |
| 14 | g.94378628C>G | CA7327289 | SERPINA1 | c.1078G>C (p.Ala360Pro) c.*377G>C (n.*377G>C) | dbSNP ExAC gnomAD v4 |
| 14 | g.94378628C>T | CA127731 | SERPINA1 | c.1078G>A (p.Ala360Thr) c.*377G>A (n.*377G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378629C>A | CA390847831 | SERPINA1 | c.1077G>T (p.Lys359Asn) c.*376G>T (n.*376G>T) | gnomAD v4 |
| 14 | g.94378629C>G | CA390847832 | SERPINA1 | c.1077G>C (p.Lys359Asn) c.*376G>C (n.*376G>C) | |
| 14 | g.94378629C>T | CA487621214 | SERPINA1 | c.1077G>A (p.Lys359=) c.*376G>A (n.*376G>A) | ClinVar |
| 14 | g.94378630T>A | CA265860697 | SERPINA1 | c.1076A>T (p.Lys359Met) c.*375A>T (n.*375A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378630T>C | CA390847833 | SERPINA1 | c.1076A>G (p.Lys359Arg) c.*375A>G (n.*375A>G) | |
| 14 | g.94378630T>G | CA390847834 | SERPINA1 | c.1076A>C (p.Lys359Thr) c.*375A>C (n.*375A>C) | |
| 14 | g.94378630T= | CA2155953475 | SERPINA1 | c.1076A= (p.Lys359=) c.*375A= (n.*375A=) | |
| 14 | g.94378631del | CA645582233 | SERPINA1 | c.1076del (p.Lys359ArgfsTer4) c.*375del (n.*375del) | COSMIC |
| 14 | g.94378631T>A | CA390847835 | SERPINA1 | c.1075A>T (p.Lys359Ter) c.*374A>T (n.*374A>T) | |
| 14 | g.94378631T>C | CA7327290 | SERPINA1 | c.1075A>G (p.Lys359Glu) c.*374A>G (n.*374A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378631T>G | CA390847836 | SERPINA1 | c.1075A>C (p.Lys359Gln) c.*374A>C (n.*374A>C) | |
| 14 | g.94378631T= | CA2155953476 | SERPINA1 | c.1075A= (p.Lys359=) c.*374A= (n.*374A=) | |
| 14 | g.94378632A>C | CA390847837 | SERPINA1 | c.1074T>G (p.His358Gln) c.*373T>G (n.*373T>G) | |
| 14 | g.94378632A>G | CA487621215 | SERPINA1 | c.1074T>C (p.His358=) c.*373T>C (n.*373T>C) | |
| 14 | g.94378632A>T | CA390847838 | SERPINA1 | c.1074T>A (p.His358Gln) c.*373T>A (n.*373T>A) | gnomAD v4 |
| 14 | g.94378632_94378634delinsATG | CA2155953477 | SERPINA1 | c.1072_1074delinsCAT (p.His358=) c.*371_*373delinsCAT (n.*371_*373delinsCAT) | |
| 14 | g.94378633T>A | CA390847840 | SERPINA1 | c.1073A>T (p.His358Leu) c.*372A>T (n.*372A>T) | |
| 14 | g.94378633T>C | CA390847841 | SERPINA1 | c.1073A>G (p.His358Arg) c.*372A>G (n.*372A>G) | ClinVar dbSNP |
| 14 | g.94378633T>G | CA390847839 | SERPINA1 | c.1073A>C (p.His358Pro) c.*372A>C (n.*372A>C) | |
| 14 | g.94378633T= | CA2155953478 | SERPINA1 | c.1073A= (p.His358=) c.*372A= (n.*372A=) | |
| 14 | g.94378633_94378634del | CA658653822 | SERPINA1 | c.1072_1073del (p.His358Ter) c.*371_*372del (n.*371_*372del) | ClinVar dbSNP |
| 14 | g.94378634G>A | CA390847842 | SERPINA1 | c.1072C>T (p.His358Tyr) c.*371C>T (n.*371C>T) | gnomAD v4 |
| 14 | g.94378634G>C | CA390847843 | SERPINA1 | c.1072C>G (p.His358Asp) c.*371C>G (n.*371C>G) | |
| 14 | g.94378634G>T | CA390847844 | SERPINA1 | c.1072C>A (p.His358Asn) c.*371C>A (n.*371C>A) | COSMIC |
| 14 | g.94378635C>A | CA487621220 | SERPINA1 | c.1071G>T (p.Val357=) c.*370G>T (n.*370G>T) | |
| 14 | g.94378635C= | CA2155953479 | SERPINA1 | c.1071G= (p.Val357=) c.*370G= (n.*370G=) | |
| 14 | g.94378635C>G | CA265860700 | SERPINA1 | c.1071G>C (p.Val357=) c.*370G>C (n.*370G>C) | dbSNP |
| 14 | g.94378635C>T | CA487621221 | SERPINA1 | c.1071G>A (p.Val357=) c.*370G>A (n.*370G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378636A= | CA2155953480 | SERPINA1 | c.1070T= (p.Val357=) c.*369T= (n.*369T=) | |
| 14 | g.94378636A>C | CA390847845 | SERPINA1 | c.1070T>G (p.Val357Gly) c.*369T>G (n.*369T>G) | |
| 14 | g.94378636A>G | CA390847846 | SERPINA1 | c.1070T>C (p.Val357Ala) c.*369T>C (n.*369T>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378636A>T | CA390847847 | SERPINA1 | c.1070T>A (p.Val357Glu) c.*369T>A (n.*369T>A) | |
| 14 | g.94378637C>A | CA390847848 | SERPINA1 | c.1069G>T (p.Val357Leu) c.*368G>T (n.*368G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378637C= | CA2155953481 | SERPINA1 | c.1069G= (p.Val357=) c.*368G= (n.*368G=) | |
| 14 | g.94378637C>G | CA390847849 | SERPINA1 | c.1069G>C (p.Val357Leu) c.*368G>C (n.*368G>C) | |
| 14 | g.94378637C>T | CA7327291 | SERPINA1 | c.1069G>A (p.Val357Met) c.*368G>A (n.*368G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378638G>A | CA7327292 | SERPINA1 | c.1068C>T (p.Ala356=) c.*367C>T (n.*367C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378638G>C | CA487621225 | SERPINA1 | c.1068C>G (p.Ala356=) c.*367C>G (n.*367C>G) | |
| 14 | g.94378638G= | CA2155953482 | SERPINA1 | c.1068C= (p.Ala356=) c.*367C= (n.*367C=) | |
| 14 | g.94378638G>T | CA487621226 | SERPINA1 | c.1068C>A (p.Ala356=) c.*367C>A (n.*367C>A) | |
| 14 | g.94378639G>A | CA390847850 | SERPINA1 | c.1067C>T (p.Ala356Val) c.*366C>T (n.*366C>T) | COSMIC |
| 14 | g.94378639G>C | CA390847851 | SERPINA1 | c.1067C>G (p.Ala356Gly) c.*366C>G (n.*366C>G) | |
| 14 | g.94378639G>T | CA390847852 | SERPINA1 | c.1067C>A (p.Ala356Asp) c.*366C>A (n.*366C>A) | |
| 14 | g.94378639_94379462delinsGCCTGGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCA | CA2155953483 | SERPINA1 | c.1065+2_1067delinsTGAGATCACCCTGACGACCTTGTTGCACCCTGGTATCTGTAGGGAAGAATGTGTGGGGGCTGCAGCTCTGTCCTGAGGCTGAGGAAGGGGCCGAGGGAAACAAATGAAGACCCAGGCTGAGCTCCTGAAGATGCCCGTGATTCACTGACACGGGACGTGGTCAAACAGCAAAGCCAGGCAGGGGACTGCTGTGCAGCTGGCACTTTCGGGGCCTCCCTTGAGGTTGTGTCACTGACCCTGAATTTCAACTTTGCCCAAGACCTTCTAGACATTGGGCCTTGATTTATCCATACTGACACAGAAAGGTTTGGGCTAAGTTGTTTCAAAGGAATTTCTGACTCCTTCGATCTGTGAGATTTGGTGTCTGAATTAATGAATGATTTCAGCTAAAGATGACACTTATTTTGGAAAACTAAAGGCGACCAATGAACAACTGCAGTTCCATGAATGGCTGCATTATCTTGGGGTCTGGGCACTGTGAAGGTCACTGCCAGGGTCCGTGTCCTCAAGGAGCTTCAAGCCGTGTACTAGAAAGGAGAGAGCCCTGGAGGCAGACGTGGAGTGACGATGCTCTTCCCTGTTCTGAGTTGTGGGTGCACCTGAGCAGGGGGAGAGGCGCTTGTCAGGAAGATGGACAGAGGGGAGCCAGCCCCATCAGCCAAAGCCTTGAGGAGGAGCAAGGCCTATGTGACAGGGAGGGAGAGGATGTGCAGGGCCAGGGCCGTCCAGGGGGAGTGAGCGCTTCCTGGGAGGTGTCCACGTGAGCCTTGCTCGAGGCCTGGGATCAGCCTTACAACGTGTCTCTGCTTCTCTCCCCTCCAGGC c.*364+2_*366delinsTGAGATCACCCTGACGACCTTGTTGCACCCTGGTATCTGTAGGGAAGAATGTGTGGGGGCTGCAGCTCTGTCCTGAGGCTGAGGAAGGGGCCGAGGGAAACAAATGAAGACCCAGGCTGAGCTCCTGAAGATGCCCGTGATTCACTGACACGGGACGTGGTCAAACAGCAAAGCCAGGCAGGGGACTGCTGTGCAGCTGGCACTTTCGGGGCCTCCCTTGAGGTTGTGTCACTGACCCTGAATTTCAACTTTGCCCAAGACCTTCTAGACATTGGGCCTTGATTTATCCATACTGACACAGAAAGGTTTGGGCTAAGTTGTTTCAAAGGAATTTCTGACTCCTTCGATCTGTGAGATTTGGTGTCTGAATTAATGAATGATTTCAGCTAAAGATGACACTTATTTTGGAAAACTAAAGGCGACCAATGAACAACTGCAGTTCCATGAATGGCTGCATTATCTTGGGGTCTGGGCACTGTGAAGGTCACTGCCAGGGTCCGTGTCCTCAAGGAGCTTCAAGCCGTGTACTAGAAAGGAGAGAGCCCTGGAGGCAGACGTGGAGTGACGATGCTCTTCCCTGTTCTGAGTTGTGGGTGCACCTGAGCAGGGGGAGAGGCGCTTGTCAGGAAGATGGACAGAGGGGAGCCAGCCCCATCAGCCAAAGCCTTGAGGAGGAGCAAGGCCTATGTGACAGGGAGGGAGAGGATGTGCAGGGCCAGGGCCGTCCAGGGGGAGTGAGCGCTTCCTGGGAGGTGTCCACGTGAGCCTTGCTCGAGGCCTGGGATCAGCCTTACAACGTGTCTCTGCTTCTCTCCCCTCCAGGC | |
| 14 | g.94378640C>A | CA390847853 | SERPINA1 | c.1066G>T (p.Ala356Ser) c.*365G>T (n.*365G>T) | |
| 14 | g.94378640C= | CA2155953484 | SERPINA1 | c.1066G= (p.Ala356=) c.*365G= (n.*365G=) |