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 |
|---|---|---|---|---|---|
| 12 | g.101753372C>A | CA386292107 | GNPTAB | c.3602G>T (p.Trp1201Leu) c.500G>T (n.500G>T) c.3521G>T (p.Trp1174Leu) c.3386G>T (p.Trp1129Leu) c.2375G>T (p.Trp792Leu) | |
| 12 | g.101753372C= | CA2058950531 | GNPTAB | c.3602G= (p.Trp1201=) c.500G= (n.500G=) c.3521G= (p.Trp1174=) c.3386G= (p.Trp1129=) c.2375G= (p.Trp792=) | |
| 12 | g.101753372C>G | CA386292108 | GNPTAB | c.3602G>C (p.Trp1201Ser) c.500G>C (n.500G>C) c.3521G>C (p.Trp1174Ser) c.3386G>C (p.Trp1129Ser) c.2375G>C (p.Trp792Ser) | |
| 12 | g.101753372C>T | CA386292109 | GNPTAB | c.3602G>A (p.Trp1201Ter) c.500G>A (n.500G>A) c.3521G>A (p.Trp1174Ter) c.3386G>A (p.Trp1129Ter) c.2375G>A (p.Trp792Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101753373A>C | CA386292110 | GNPTAB | c.3601T>G (p.Trp1201Gly) c.499T>G (n.499T>G) c.3520T>G (p.Trp1174Gly) c.3385T>G (p.Trp1129Gly) c.2374T>G (p.Trp792Gly) | |
| 12 | g.101753373A>G | CA386292111 | GNPTAB | c.3601T>C (p.Trp1201Arg) c.499T>C (n.499T>C) c.3520T>C (p.Trp1174Arg) c.3385T>C (p.Trp1129Arg) c.2374T>C (p.Trp792Arg) | |
| 12 | g.101753373A>T | CA386292112 | GNPTAB | c.3601T>A (p.Trp1201Arg) c.499T>A (n.499T>A) c.3520T>A (p.Trp1174Arg) c.3385T>A (p.Trp1129Arg) c.2374T>A (p.Trp792Arg) | |
| 12 | g.101753374T>A | CA386292113 | GNPTAB | c.3600A>T (p.Glu1200Asp) c.498A>T (n.498A>T) c.3519A>T (p.Glu1173Asp) c.3384A>T (p.Glu1128Asp) c.2373A>T (p.Glu791Asp) | |
| 12 | g.101753374T>C | CA481317510 | GNPTAB | c.3600A>G (p.Glu1200=) c.498A>G (n.498A>G) c.3519A>G (p.Glu1173=) c.3384A>G (p.Glu1128=) c.2373A>G (p.Glu791=) | |
| 12 | g.101753374T>G | CA386292114 | GNPTAB | c.3600A>C (p.Glu1200Asp) c.498A>C (n.498A>C) c.3519A>C (p.Glu1173Asp) c.3384A>C (p.Glu1128Asp) c.2373A>C (p.Glu791Asp) | |
| 12 | g.101753375T>A | CA386292117 | GNPTAB | c.3599A>T (p.Glu1200Val) c.497A>T (n.497A>T) c.3518A>T (p.Glu1173Val) c.3383A>T (p.Glu1128Val) c.2372A>T (p.Glu791Val) | |
| 12 | g.101753375T>C | CA386292116 | GNPTAB | c.3599A>G (p.Glu1200Gly) c.497A>G (n.497A>G) c.3518A>G (p.Glu1173Gly) c.3383A>G (p.Glu1128Gly) c.2372A>G (p.Glu791Gly) | |
| 12 | g.101753375T>G | CA386292115 | GNPTAB | c.3599A>C (p.Glu1200Ala) c.497A>C (n.497A>C) c.3518A>C (p.Glu1173Ala) c.3383A>C (p.Glu1128Ala) c.2372A>C (p.Glu791Ala) | |
| 12 | g.101753376C>A | CA386292118 | GNPTAB | c.3598G>T (p.Glu1200Ter) c.496G>T (n.496G>T) c.3517G>T (p.Glu1173Ter) c.3382G>T (p.Glu1128Ter) c.2371G>T (p.Glu791Ter) | ClinVar |
| 12 | g.101753376C= | CA2058950532 | GNPTAB | c.3598G= (p.Glu1200=) c.496G= (n.496G=) c.3517G= (p.Glu1173=) c.3382G= (p.Glu1128=) c.2371G= (p.Glu791=) | |
| 12 | g.101753376C>G | CA386292119 | GNPTAB | c.3598G>C (p.Glu1200Gln) c.496G>C (n.496G>C) c.3517G>C (p.Glu1173Gln) c.3382G>C (p.Glu1128Gln) c.2371G>C (p.Glu791Gln) | |
| 12 | g.101753376C>T | CA149257 | GNPTAB | c.3598G>A (p.Glu1200Lys) c.496G>A (n.496G>A) c.3517G>A (p.Glu1173Lys) c.3382G>A (p.Glu1128Lys) c.2371G>A (p.Glu791Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753377C>A | CA386292120 | GNPTAB | c.3597G>T (p.Gln1199His) c.495G>T (n.495G>T) c.3516G>T (p.Gln1172His) c.3381G>T (p.Gln1127His) c.2370G>T (p.Gln790His) | |
| 12 | g.101753377C= | CA2058950533 | GNPTAB | c.3597G= (p.Gln1199=) c.495G= (n.495G=) c.3516G= (p.Gln1172=) c.3381G= (p.Gln1127=) c.2370G= (p.Gln790=) | |
| 12 | g.101753377C>G | CA386292121 | GNPTAB | c.3597G>C (p.Gln1199His) c.495G>C (n.495G>C) c.3516G>C (p.Gln1172His) c.3381G>C (p.Gln1127His) c.2370G>C (p.Gln790His) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101753377C>T | CA6746113 | GNPTAB | c.3597G>A (p.Gln1199=) c.495G>A (n.495G>A) c.3516G>A (p.Gln1172=) c.3381G>A (p.Gln1127=) c.2370G>A (p.Gln790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753378T>A | CA386292122 | GNPTAB | c.3596A>T (p.Gln1199Leu) c.494A>T (n.494A>T) c.3515A>T (p.Gln1172Leu) c.3380A>T (p.Gln1127Leu) c.2369A>T (p.Gln790Leu) | |
| 12 | g.101753378T>C | CA386292123 | GNPTAB | c.3596A>G (p.Gln1199Arg) c.494A>G (n.494A>G) c.3515A>G (p.Gln1172Arg) c.3380A>G (p.Gln1127Arg) c.2369A>G (p.Gln790Arg) | |
| 12 | g.101753378T>G | CA386292124 | GNPTAB | c.3596A>C (p.Gln1199Pro) c.494A>C (n.494A>C) c.3515A>C (p.Gln1172Pro) c.3380A>C (p.Gln1127Pro) c.2369A>C (p.Gln790Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101753378T= | CA2058950534 | GNPTAB | c.3596A= (p.Gln1199=) c.494A= (n.494A=) c.3515A= (p.Gln1172=) c.3380A= (p.Gln1127=) c.2369A= (p.Gln790=) | |
| 12 | g.101753379G>A | CA386292125 | GNPTAB | c.3595C>T (p.Gln1199Ter) c.493C>T (n.493C>T) c.3514C>T (p.Gln1172Ter) c.3379C>T (p.Gln1127Ter) c.2368C>T (p.Gln790Ter) | ClinVar |
| 12 | g.101753379G>C | CA386292127 | GNPTAB | c.3595C>G (p.Gln1199Glu) c.493C>G (n.493C>G) c.3514C>G (p.Gln1172Glu) c.3379C>G (p.Gln1127Glu) c.2368C>G (p.Gln790Glu) | |
| 12 | g.101753379G>T | CA386292128 | GNPTAB | c.3595C>A (p.Gln1199Lys) c.493C>A (n.493C>A) c.3514C>A (p.Gln1172Lys) c.3379C>A (p.Gln1127Lys) c.2368C>A (p.Gln790Lys) | |
| 12 | g.101753380C>A | CA481317511 | GNPTAB | c.3594G>T (p.Leu1198=) c.492G>T (n.492G>T) c.3513G>T (p.Leu1171=) c.3378G>T (p.Leu1126=) c.2367G>T (p.Leu789=) | |
| 12 | g.101753380C= | CA2058950535 | GNPTAB | c.3594G= (p.Leu1198=) c.492G= (n.492G=) c.3513G= (p.Leu1171=) c.3378G= (p.Leu1126=) c.2367G= (p.Leu789=) | |
| 12 | g.101753380C>G | CA481317512 | GNPTAB | c.3594G>C (p.Leu1198=) c.492G>C (n.492G>C) c.3513G>C (p.Leu1171=) c.3378G>C (p.Leu1126=) c.2367G>C (p.Leu789=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101753380C>T | CA481317513 | GNPTAB | c.3594G>A (p.Leu1198=) c.492G>A (n.492G>A) c.3513G>A (p.Leu1171=) c.3378G>A (p.Leu1126=) c.2367G>A (p.Leu789=) | |
| 12 | g.101753381A>C | CA386292131 | GNPTAB | c.3593T>G (p.Leu1198Arg) c.491T>G (n.491T>G) c.3512T>G (p.Leu1171Arg) c.3377T>G (p.Leu1126Arg) c.2366T>G (p.Leu789Arg) | |
| 12 | g.101753381A>G | CA386292130 | GNPTAB | c.3593T>C (p.Leu1198Pro) c.491T>C (n.491T>C) c.3512T>C (p.Leu1171Pro) c.3377T>C (p.Leu1126Pro) c.2366T>C (p.Leu789Pro) | |
| 12 | g.101753381A>T | CA386292129 | GNPTAB | c.3593T>A (p.Leu1198Gln) c.491T>A (n.491T>A) c.3512T>A (p.Leu1171Gln) c.3377T>A (p.Leu1126Gln) c.2366T>A (p.Leu789Gln) | |
| 12 | g.101753382G>A | CA481317514 | GNPTAB | c.3592C>T (p.Leu1198=) c.490C>T (n.490C>T) c.3511C>T (p.Leu1171=) c.3376C>T (p.Leu1126=) c.2365C>T (p.Leu789=) | |
| 12 | g.101753382G>C | CA386292132 | GNPTAB | c.3592C>G (p.Leu1198Val) c.490C>G (n.490C>G) c.3511C>G (p.Leu1171Val) c.3376C>G (p.Leu1126Val) c.2365C>G (p.Leu789Val) | |
| 12 | g.101753382G>T | CA386292133 | GNPTAB | c.3592C>A (p.Leu1198Met) c.490C>A (n.490C>A) c.3511C>A (p.Leu1171Met) c.3376C>A (p.Leu1126Met) c.2365C>A (p.Leu789Met) | |
| 12 | g.101753383C>A | CA386292134 | GNPTAB | c.3591G>T (p.Glu1197Asp) c.489G>T (n.489G>T) c.3510G>T (p.Glu1170Asp) c.3375G>T (p.Glu1125Asp) c.2364G>T (p.Glu788Asp) | |
| 12 | g.101753383C= | CA2058950536 | GNPTAB | c.3591G= (p.Glu1197=) c.489G= (n.489G=) c.3510G= (p.Glu1170=) c.3375G= (p.Glu1125=) c.2364G= (p.Glu788=) | |
| 12 | g.101753383C>G | CA386292135 | GNPTAB | c.3591G>C (p.Glu1197Asp) c.489G>C (n.489G>C) c.3510G>C (p.Glu1170Asp) c.3375G>C (p.Glu1125Asp) c.2364G>C (p.Glu788Asp) | gnomAD v4 |
| 12 | g.101753383C>T | CA6746114 | GNPTAB | c.3591G>A (p.Glu1197=) c.489G>A (n.489G>A) c.3510G>A (p.Glu1170=) c.3375G>A (p.Glu1125=) c.2364G>A (p.Glu788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753384T>A | CA386292136 | GNPTAB | c.3590A>T (p.Glu1197Val) c.488A>T (n.488A>T) c.3509A>T (p.Glu1170Val) c.3374A>T (p.Glu1125Val) c.2363A>T (p.Glu788Val) | |
| 12 | g.101753384T>C | CA386292137 | GNPTAB | c.3590A>G (p.Glu1197Gly) c.488A>G (n.488A>G) c.3509A>G (p.Glu1170Gly) c.3374A>G (p.Glu1125Gly) c.2363A>G (p.Glu788Gly) | COSMIC |
| 12 | g.101753384T>G | CA386292138 | GNPTAB | c.3590A>C (p.Glu1197Ala) c.488A>C (n.488A>C) c.3509A>C (p.Glu1170Ala) c.3374A>C (p.Glu1125Ala) c.2363A>C (p.Glu788Ala) | dbSNP |
| 12 | g.101753384T= | CA2058950537 | GNPTAB | c.3590A= (p.Glu1197=) c.488A= (n.488A=) c.3509A= (p.Glu1170=) c.3374A= (p.Glu1125=) c.2363A= (p.Glu788=) | |
| 12 | g.101753385C>A | CA386292139 | GNPTAB | c.3589G>T (p.Glu1197Ter) c.487G>T (n.487G>T) c.3508G>T (p.Glu1170Ter) c.3373G>T (p.Glu1125Ter) c.2362G>T (p.Glu788Ter) | gnomAD v4 |
| 12 | g.101753385C>G | CA386292140 | GNPTAB | c.3589G>C (p.Glu1197Gln) c.487G>C (n.487G>C) c.3508G>C (p.Glu1170Gln) c.3373G>C (p.Glu1125Gln) c.2362G>C (p.Glu788Gln) | |
| 12 | g.101753385C>T | CA386292141 | GNPTAB | c.3589G>A (p.Glu1197Lys) c.487G>A (n.487G>A) c.3508G>A (p.Glu1170Lys) c.3373G>A (p.Glu1125Lys) c.2362G>A (p.Glu788Lys) | COSMIC |
| 12 | g.101753386A>C | CA386292142 | GNPTAB | c.3588T>G (p.His1196Gln) c.486T>G (n.486T>G) c.3507T>G (p.His1169Gln) c.3372T>G (p.His1124Gln) c.2361T>G (p.His787Gln) |