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.30737382G>A | CA280523803 | SRCAP | c.7342G>A (p.Ala2448Thr) c.1593+29G>A c.6811G>A (p.Ala2271Thr) c.6565G>A (p.Ala2189Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737382G>C | CA395632601 | SRCAP | c.7342G>C (p.Ala2448Pro) c.1593+29G>C c.6811G>C (p.Ala2271Pro) c.6565G>C (p.Ala2189Pro) | gnomAD v4 |
| 16 | g.30737382G= | CA2216733621 | SRCAP | c.7342G= (p.Ala2448=) c.1593+29G= c.6811G= (p.Ala2271=) c.6565G= (p.Ala2189=) | |
| 16 | g.30737382G>T | CA395632602 | SRCAP | c.7342G>T (p.Ala2448Ser) c.1593+29G>T c.6811G>T (p.Ala2271Ser) c.6565G>T (p.Ala2189Ser) | |
| 16 | g.30737383C>A | CA395632604 | SRCAP | c.7343C>A (p.Ala2448Asp) c.1593+30C>A c.6812C>A (p.Ala2271Asp) c.6566C>A (p.Ala2189Asp) | |
| 16 | g.30737383C= | CA2216733627 | SRCAP | c.7343C= (p.Ala2448=) c.1593+30C= c.6812C= (p.Ala2271=) c.6566C= (p.Ala2189=) | |
| 16 | g.30737383C>G | CA395632603 | SRCAP | c.7343C>G (p.Ala2448Gly) c.1593+30C>G c.6812C>G (p.Ala2271Gly) c.6566C>G (p.Ala2189Gly) | |
| 16 | g.30737383C>T | CA280523806 | SRCAP | c.7343C>T (p.Ala2448Val) c.1593+30C>T c.6812C>T (p.Ala2271Val) c.6566C>T (p.Ala2189Val) | dbSNP gnomAD v4 |
| 16 | g.30737384T>A | CA494910681 | SRCAP | c.7344T>A (p.Ala2448=) c.1593+31T>A c.6813T>A (p.Ala2271=) c.6567T>A (p.Ala2189=) | |
| 16 | g.30737384T>C | CA494910682 | SRCAP | c.7344T>C (p.Ala2448=) c.1593+31T>C c.6813T>C (p.Ala2271=) c.6567T>C (p.Ala2189=) | |
| 16 | g.30737384T>G | CA494910683 | SRCAP | c.7344T>G (p.Ala2448=) c.1593+31T>G c.6813T>G (p.Ala2271=) c.6567T>G (p.Ala2189=) | |
| 16 | g.30737385T>A | CA395632605 | SRCAP | c.7345T>A (p.Ser2449Thr) c.1593+32T>A c.6814T>A (p.Ser2272Thr) c.6568T>A (p.Ser2190Thr) | |
| 16 | g.30737385T>C | CA395632606 | SRCAP | c.7345T>C (p.Ser2449Pro) c.1593+32T>C c.6814T>C (p.Ser2272Pro) c.6568T>C (p.Ser2190Pro) | |
| 16 | g.30737385T>G | CA395632607 | SRCAP | c.7345T>G (p.Ser2449Ala) c.1593+32T>G c.6814T>G (p.Ser2272Ala) c.6568T>G (p.Ser2190Ala) | gnomAD v4 |
| 16 | g.30737386C>A | CA395632608 | SRCAP | c.7346C>A (p.Ser2449Ter) c.1593+33C>A c.6815C>A (p.Ser2272Ter) c.6569C>A (p.Ser2190Ter) | |
| 16 | g.30737386C>G | CA395632609 | SRCAP | c.7346C>G (p.Ser2449Ter) c.1593+33C>G c.6815C>G (p.Ser2272Ter) c.6569C>G (p.Ser2190Ter) | |
| 16 | g.30737386C>T | CA395632610 | SRCAP | c.7346C>T (p.Ser2449Leu) c.1593+33C>T c.6815C>T (p.Ser2272Leu) c.6569C>T (p.Ser2190Leu) | gnomAD v4 |
| 16 | g.30737387A>C | CA494910684 | SRCAP | c.7347A>C (p.Ser2449=) c.1593+34A>C c.6816A>C (p.Ser2272=) c.6570A>C (p.Ser2190=) | |
| 16 | g.30737387A>G | CA494910685 | SRCAP | c.7347A>G (p.Ser2449=) c.1593+34A>G c.6816A>G (p.Ser2272=) c.6570A>G (p.Ser2190=) | |
| 16 | g.30737387A>T | CA494910687 | SRCAP | c.7347A>T (p.Ser2449=) c.1593+34A>T c.6816A>T (p.Ser2272=) c.6570A>T (p.Ser2190=) | |
| 16 | g.30737388G>A | CA395632611 | SRCAP | c.7348G>A (p.Ala2450Thr) c.1593+35G>A c.6817G>A (p.Ala2273Thr) c.6571G>A (p.Ala2191Thr) | |
| 16 | g.30737388G>C | CA395632613 | SRCAP | c.7348G>C (p.Ala2450Pro) c.1593+35G>C c.6817G>C (p.Ala2273Pro) c.6571G>C (p.Ala2191Pro) | |
| 16 | g.30737388G>T | CA395632612 | SRCAP | c.7348G>T (p.Ala2450Ser) c.1593+35G>T c.6817G>T (p.Ala2273Ser) c.6571G>T (p.Ala2191Ser) | |
| 16 | g.30737389C>A | CA395632614 | SRCAP | c.7349C>A (p.Ala2450Asp) c.1593+36C>A c.6818C>A (p.Ala2273Asp) c.6572C>A (p.Ala2191Asp) | |
| 16 | g.30737389C>G | CA395632615 | SRCAP | c.7349C>G (p.Ala2450Gly) c.1593+36C>G c.6818C>G (p.Ala2273Gly) c.6572C>G (p.Ala2191Gly) | |
| 16 | g.30737389C>T | CA395632616 | SRCAP | c.7349C>T (p.Ala2450Val) c.1593+36C>T c.6818C>T (p.Ala2273Val) c.6572C>T (p.Ala2191Val) | |
| 16 | g.30737390T>A | CA494910688 | SRCAP | c.7350T>A (p.Ala2450=) c.1593+37T>A c.6819T>A (p.Ala2273=) c.6573T>A (p.Ala2191=) | |
| 16 | g.30737390T>C | CA494910689 | SRCAP | c.7350T>C (p.Ala2450=) c.1593+37T>C c.6819T>C (p.Ala2273=) c.6573T>C (p.Ala2191=) | |
| 16 | g.30737390T>G | CA494910690 | SRCAP | c.7350T>G (p.Ala2450=) c.1593+37T>G c.6819T>G (p.Ala2273=) c.6573T>G (p.Ala2191=) | |
| 16 | g.30737391C>A | CA395632617 | SRCAP | c.7351C>A (p.Pro2451Thr) c.1593+38C>A c.6820C>A (p.Pro2274Thr) c.6574C>A (p.Pro2192Thr) | |
| 16 | g.30737391C= | CA2216733633 | SRCAP | c.7351C= (p.Pro2451=) c.1593+38C= c.6820C= (p.Pro2274=) c.6574C= (p.Pro2192=) | |
| 16 | g.30737391C>G | CA395632618 | SRCAP | c.7351C>G (p.Pro2451Ala) c.1593+38C>G c.6820C>G (p.Pro2274Ala) c.6574C>G (p.Pro2192Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737391C>T | CA8012465 | SRCAP | c.7351C>T (p.Pro2451Ser) c.1593+38C>T c.6820C>T (p.Pro2274Ser) c.6574C>T (p.Pro2192Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737392C>A | CA395632619 | SRCAP | c.7352C>A (p.Pro2451Gln) c.1593+39C>A c.6821C>A (p.Pro2274Gln) c.6575C>A (p.Pro2192Gln) | |
| 16 | g.30737392C= | CA2216733640 | SRCAP | c.7352C= (p.Pro2451=) c.1593+39C= c.6821C= (p.Pro2274=) c.6575C= (p.Pro2192=) | |
| 16 | g.30737392C>G | CA395632620 | SRCAP | c.7352C>G (p.Pro2451Arg) c.1593+39C>G c.6821C>G (p.Pro2274Arg) c.6575C>G (p.Pro2192Arg) | |
| 16 | g.30737392C>T | CA8012466 | SRCAP | c.7352C>T (p.Pro2451Leu) c.1593+39C>T c.6821C>T (p.Pro2274Leu) c.6575C>T (p.Pro2192Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737393G>A | CA494910694 | SRCAP | c.7353G>A (p.Pro2451=) c.1593+40G>A c.6822G>A (p.Pro2274=) c.6576G>A (p.Pro2192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737393G>C | CA494910695 | SRCAP | c.7353G>C (p.Pro2451=) c.1593+40G>C c.6822G>C (p.Pro2274=) c.6576G>C (p.Pro2192=) | |
| 16 | g.30737393G= | CA2216733645 | SRCAP | c.7353G= (p.Pro2451=) c.1593+40G= c.6822G= (p.Pro2274=) c.6576G= (p.Pro2192=) | |
| 16 | g.30737393G>T | CA494910696 | SRCAP | c.7353G>T (p.Pro2451=) c.1593+40G>T c.6822G>T (p.Pro2274=) c.6576G>T (p.Pro2192=) | |
| 16 | g.30737394G>A | CA8012467 | SRCAP | c.7354G>A (p.Ala2452Thr) c.1593+41G>A c.6823G>A (p.Ala2275Thr) c.6577G>A (p.Ala2193Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737394G>C | CA395632621 | SRCAP | c.7354G>C (p.Ala2452Pro) c.1593+41G>C c.6823G>C (p.Ala2275Pro) c.6577G>C (p.Ala2193Pro) | |
| 16 | g.30737394G= | CA2216733649 | SRCAP | c.7354G= (p.Ala2452=) c.1593+41G= c.6823G= (p.Ala2275=) c.6577G= (p.Ala2193=) | |
| 16 | g.30737394G>T | CA395632622 | SRCAP | c.7354G>T (p.Ala2452Ser) c.1593+41G>T c.6823G>T (p.Ala2275Ser) c.6577G>T (p.Ala2193Ser) | |
| 16 | g.30737395C>A | CA395632623 | SRCAP | c.7355C>A (p.Ala2452Asp) c.1593+42C>A c.6824C>A (p.Ala2275Asp) c.6578C>A (p.Ala2193Asp) | |
| 16 | g.30737395C>G | CA395632625 | SRCAP | c.7355C>G (p.Ala2452Gly) c.1593+42C>G c.6824C>G (p.Ala2275Gly) c.6578C>G (p.Ala2193Gly) | |
| 16 | g.30737395C>T | CA395632624 | SRCAP | c.7355C>T (p.Ala2452Val) c.1593+42C>T c.6824C>T (p.Ala2275Val) c.6578C>T (p.Ala2193Val) | |
| 16 | g.30737396T>A | CA494910697 | SRCAP | c.7356T>A (p.Ala2452=) c.1593+43T>A c.6825T>A (p.Ala2275=) c.6579T>A (p.Ala2193=) | |
| 16 | g.30737396T>C | CA494910698 | SRCAP | c.7356T>C (p.Ala2452=) c.1593+43T>C c.6825T>C (p.Ala2275=) c.6579T>C (p.Ala2193=) | gnomAD v4 |