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.101753440T>A | CA481317607 | GNPTAB | c.3534A>T (p.Ile1178=) c.432A>T (n.432A>T) c.3453A>T (p.Ile1151=) c.3318A>T (p.Ile1106=) c.2307A>T (p.Ile769=) | |
| 12 | g.101753440T>C | CA6746122 | GNPTAB | c.3534A>G (p.Ile1178Met) c.432A>G (n.432A>G) c.3453A>G (p.Ile1151Met) c.3318A>G (p.Ile1106Met) c.2307A>G (p.Ile769Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753440T>G | CA481317608 | GNPTAB | c.3534A>C (p.Ile1178=) c.432A>C (n.432A>C) c.3453A>C (p.Ile1151=) c.3318A>C (p.Ile1106=) c.2307A>C (p.Ile769=) | |
| 12 | g.101753440T= | CA2058950560 | GNPTAB | c.3534A= (p.Ile1178=) c.432A= (n.432A=) c.3453A= (p.Ile1151=) c.3318A= (p.Ile1106=) c.2307A= (p.Ile769=) | |
| 12 | g.101753441A>C | CA386292389 | GNPTAB | c.3533T>G (p.Ile1178Arg) c.431T>G (n.431T>G) c.3452T>G (p.Ile1151Arg) c.3317T>G (p.Ile1106Arg) c.2306T>G (p.Ile769Arg) | |
| 12 | g.101753441A>G | CA386292387 | GNPTAB | c.3533T>C (p.Ile1178Thr) c.431T>C (n.431T>C) c.3452T>C (p.Ile1151Thr) c.3317T>C (p.Ile1106Thr) c.2306T>C (p.Ile769Thr) | gnomAD v4 |
| 12 | g.101753441A>T | CA386292385 | GNPTAB | c.3533T>A (p.Ile1178Lys) c.431T>A (n.431T>A) c.3452T>A (p.Ile1151Lys) c.3317T>A (p.Ile1106Lys) c.2306T>A (p.Ile769Lys) | |
| 12 | g.101753442del | CA2575264832 | GNPTAB | c.3532del (p.Ile1178TyrfsTer?) c.430del (n.430del) c.3451del (p.Ile1151TyrfsTer?) c.3316del (p.Ile1106TyrfsTer?) c.2305del (p.Ile769TyrfsTer?) | gnomAD v4 |
| 12 | g.101753442T>A | CA386292391 | GNPTAB | c.3532A>T (p.Ile1178Leu) c.430A>T (n.430A>T) c.3451A>T (p.Ile1151Leu) c.3316A>T (p.Ile1106Leu) c.2305A>T (p.Ile769Leu) | |
| 12 | g.101753442T>C | CA386292392 | GNPTAB | c.3532A>G (p.Ile1178Val) c.430A>G (n.430A>G) c.3451A>G (p.Ile1151Val) c.3316A>G (p.Ile1106Val) c.2305A>G (p.Ile769Val) | gnomAD v4 |
| 12 | g.101753442T>G | CA6746123 | GNPTAB | c.3532A>C (p.Ile1178Leu) c.430A>C (n.430A>C) c.3451A>C (p.Ile1151Leu) c.3316A>C (p.Ile1106Leu) c.2305A>C (p.Ile769Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753442T= | CA2058950561 | GNPTAB | c.3532A= (p.Ile1178=) c.430A= (n.430A=) c.3451A= (p.Ile1151=) c.3316A= (p.Ile1106=) c.2305A= (p.Ile769=) | |
| 12 | g.101753443G>A | CA481317612 | GNPTAB | c.3531C>T (p.Pro1177=) c.429C>T (n.429C>T) c.3450C>T (p.Pro1150=) c.3315C>T (p.Pro1105=) c.2304C>T (p.Pro768=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101753443G>C | CA481317614 | GNPTAB | c.3531C>G (p.Pro1177=) c.429C>G (n.429C>G) c.3450C>G (p.Pro1150=) c.3315C>G (p.Pro1105=) c.2304C>G (p.Pro768=) | ClinVar |
| 12 | g.101753443G= | CA2058950562 | GNPTAB | c.3531C= (p.Pro1177=) c.429C= (n.429C=) c.3450C= (p.Pro1150=) c.3315C= (p.Pro1105=) c.2304C= (p.Pro768=) | |
| 12 | g.101753443G>T | CA481317615 | GNPTAB | c.3531C>A (p.Pro1177=) c.429C>A (n.429C>A) c.3450C>A (p.Pro1150=) c.3315C>A (p.Pro1105=) c.2304C>A (p.Pro768=) | |
| 12 | g.101753444G>A | CA386292396 | GNPTAB | c.3530C>T (p.Pro1177Leu) c.428C>T (n.428C>T) c.3449C>T (p.Pro1150Leu) c.3314C>T (p.Pro1105Leu) c.2303C>T (p.Pro768Leu) | gnomAD v4 |
| 12 | g.101753444G>C | CA386292398 | GNPTAB | c.3530C>G (p.Pro1177Arg) c.428C>G (n.428C>G) c.3449C>G (p.Pro1150Arg) c.3314C>G (p.Pro1105Arg) c.2303C>G (p.Pro768Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753444G= | CA2058950564 | GNPTAB | c.3530C= (p.Pro1177=) c.428C= (n.428C=) c.3449C= (p.Pro1150=) c.3314C= (p.Pro1105=) c.2303C= (p.Pro768=) | |
| 12 | g.101753444G>T | CA386292400 | GNPTAB | c.3530C>A (p.Pro1177His) c.428C>A (n.428C>A) c.3449C>A (p.Pro1150His) c.3314C>A (p.Pro1105His) c.2303C>A (p.Pro768His) | |
| 12 | g.101753444_101753451delinsGGGAACAT | CA2058950563 | GNPTAB | c.3523_3530delinsATGTTCCC (p.Met1175=) c.421_428delinsATGTTCCC (n.421_428delinsATGTTCCC) c.3442_3449delinsATGTTCCC (p.Met1148=) c.3307_3314delinsATGTTCCC (p.Met1103=) c.2296_2303delinsATGTTCCC (p.Met766=) | |
| 12 | g.101753445G>A | CA386292406 | GNPTAB | c.3529C>T (p.Pro1177Ser) c.427C>T (n.427C>T) c.3448C>T (p.Pro1150Ser) c.3313C>T (p.Pro1105Ser) c.2302C>T (p.Pro768Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753445G>C | CA386292404 | GNPTAB | c.3529C>G (p.Pro1177Ala) c.427C>G (n.427C>G) c.3448C>G (p.Pro1150Ala) c.3313C>G (p.Pro1105Ala) c.2302C>G (p.Pro768Ala) | |
| 12 | g.101753445G= | CA2058950565 | GNPTAB | c.3529C= (p.Pro1177=) c.427C= (n.427C=) c.3448C= (p.Pro1150=) c.3313C= (p.Pro1105=) c.2302C= (p.Pro768=) | |
| 12 | g.101753445G>T | CA242447726 | GNPTAB | c.3529C>A (p.Pro1177Thr) c.427C>A (n.427C>A) c.3448C>A (p.Pro1150Thr) c.3313C>A (p.Pro1105Thr) c.2302C>A (p.Pro768Thr) | dbSNP gnomAD v2 |
| 12 | g.101753448_101753454del | CA343404 | GNPTAB | c.3523_3529del (p.Met1175ProfsTer?) c.421_427del (n.421_427del) c.3442_3448del (p.Met1148ProfsTer?) c.3307_3313del (p.Met1103ProfsTer?) c.2296_2302del (p.Met766ProfsTer?) | ClinVar dbSNP |
| 12 | g.101753446G>A | CA481317620 | GNPTAB | c.3528C>T (p.Phe1176=) c.426C>T (n.426C>T) c.3447C>T (p.Phe1149=) c.3312C>T (p.Phe1104=) c.2301C>T (p.Phe767=) | gnomAD v4 |
| 12 | g.101753446G>C | CA6746125 | GNPTAB | c.3528C>G (p.Phe1176Leu) c.426C>G (n.426C>G) c.3447C>G (p.Phe1149Leu) c.3312C>G (p.Phe1104Leu) c.2301C>G (p.Phe767Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101753446G= | CA2058950566 | GNPTAB | c.3528C= (p.Phe1176=) c.426C= (n.426C=) c.3447C= (p.Phe1149=) c.3312C= (p.Phe1104=) c.2301C= (p.Phe767=) | |
| 12 | g.101753446G>T | CA6746124 | GNPTAB | c.3528C>A (p.Phe1176Leu) c.426C>A (n.426C>A) c.3447C>A (p.Phe1149Leu) c.3312C>A (p.Phe1104Leu) c.2301C>A (p.Phe767Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753447A>C | CA386292412 | GNPTAB | c.3527T>G (p.Phe1176Cys) c.425T>G (n.425T>G) c.3446T>G (p.Phe1149Cys) c.3311T>G (p.Phe1104Cys) c.2300T>G (p.Phe767Cys) | |
| 12 | g.101753447A>G | CA386292414 | GNPTAB | c.3527T>C (p.Phe1176Ser) c.425T>C (n.425T>C) c.3446T>C (p.Phe1149Ser) c.3311T>C (p.Phe1104Ser) c.2300T>C (p.Phe767Ser) | |
| 12 | g.101753447A>T | CA386292416 | GNPTAB | c.3527T>A (p.Phe1176Tyr) c.425T>A (n.425T>A) c.3446T>A (p.Phe1149Tyr) c.3311T>A (p.Phe1104Tyr) c.2300T>A (p.Phe767Tyr) | |
| 12 | g.101753448A>C | CA386292419 | GNPTAB | c.3526T>G (p.Phe1176Val) c.424T>G (n.424T>G) c.3445T>G (p.Phe1149Val) c.3310T>G (p.Phe1104Val) c.2299T>G (p.Phe767Val) | |
| 12 | g.101753448A>G | CA386292421 | GNPTAB | c.3526T>C (p.Phe1176Leu) c.424T>C (n.424T>C) c.3445T>C (p.Phe1149Leu) c.3310T>C (p.Phe1104Leu) c.2299T>C (p.Phe767Leu) | |
| 12 | g.101753448A>T | CA386292423 | GNPTAB | c.3526T>A (p.Phe1176Ile) c.424T>A (n.424T>A) c.3445T>A (p.Phe1149Ile) c.3310T>A (p.Phe1104Ile) c.2299T>A (p.Phe767Ile) | |
| 12 | g.101753449C>A | CA6746126 | GNPTAB | c.3525G>T (p.Met1175Ile) c.423G>T (n.423G>T) c.3444G>T (p.Met1148Ile) c.3309G>T (p.Met1103Ile) c.2298G>T (p.Met766Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753449C= | CA2058950567 | GNPTAB | c.3525G= (p.Met1175=) c.423G= (n.423G=) c.3444G= (p.Met1148=) c.3309G= (p.Met1103=) c.2298G= (p.Met766=) | |
| 12 | g.101753449C>G | CA386292426 | GNPTAB | c.3525G>C (p.Met1175Ile) c.423G>C (n.423G>C) c.3444G>C (p.Met1148Ile) c.3309G>C (p.Met1103Ile) c.2298G>C (p.Met766Ile) | |
| 12 | g.101753449C>T | CA386292428 | GNPTAB | c.3525G>A (p.Met1175Ile) c.423G>A (n.423G>A) c.3444G>A (p.Met1148Ile) c.3309G>A (p.Met1103Ile) c.2298G>A (p.Met766Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101753450A= | CA2058950568 | GNPTAB | c.3524T= (p.Met1175=) c.422T= (n.422T=) c.3443T= (p.Met1148=) c.3308T= (p.Met1103=) c.2297T= (p.Met766=) | |
| 12 | g.101753450A>C | CA6746128 | GNPTAB | c.3524T>G (p.Met1175Arg) c.422T>G (n.422T>G) c.3443T>G (p.Met1148Arg) c.3308T>G (p.Met1103Arg) c.2297T>G (p.Met766Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101753450A>G | CA6746127 | GNPTAB | c.3524T>C (p.Met1175Thr) c.422T>C (n.422T>C) c.3443T>C (p.Met1148Thr) c.3308T>C (p.Met1103Thr) c.2297T>C (p.Met766Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101753450A>T | CA386292432 | GNPTAB | c.3524T>A (p.Met1175Lys) c.422T>A (n.422T>A) c.3443T>A (p.Met1148Lys) c.3308T>A (p.Met1103Lys) c.2297T>A (p.Met766Lys) | |
| 12 | g.101753451T>A | CA386292438 | GNPTAB | c.3523A>T (p.Met1175Leu) c.421A>T (n.421A>T) c.3442A>T (p.Met1148Leu) c.3307A>T (p.Met1103Leu) c.2296A>T (p.Met766Leu) | |
| 12 | g.101753451T>C | CA386292436 | GNPTAB | c.3523A>G (p.Met1175Val) c.421A>G (n.421A>G) c.3442A>G (p.Met1148Val) c.3307A>G (p.Met1103Val) c.2296A>G (p.Met766Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753451T>G | CA386292433 | GNPTAB | c.3523A>C (p.Met1175Leu) c.421A>C (n.421A>C) c.3442A>C (p.Met1148Leu) c.3307A>C (p.Met1103Leu) c.2296A>C (p.Met766Leu) | |
| 12 | g.101753451T= | CA2058950569 | GNPTAB | c.3523A= (p.Met1175=) c.421A= (n.421A=) c.3442A= (p.Met1148=) c.3307A= (p.Met1103=) c.2296A= (p.Met766=) | |
| 12 | g.101753452G>A | CA481317626 | GNPTAB | c.3522C>T (p.Ser1174=) c.420C>T (n.420C>T) c.3441C>T (p.Ser1147=) c.3306C>T (p.Ser1102=) c.2295C>T (p.Ser765=) | |
| 12 | g.101753452G>C | CA481317627 | GNPTAB | c.3522C>G (p.Ser1174=) c.420C>G (n.420C>G) c.3441C>G (p.Ser1147=) c.3306C>G (p.Ser1102=) c.2295C>G (p.Ser765=) |