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.229432767C>A | CA345150419 | ACTA1 | c.243G>T (p.Trp81Cys) c.108G>T (p.Trp36Cys) | |
| 1 | g.229432767C= | CA1226125957 | ACTA1 | c.243G= (p.Trp81=) c.108G= (p.Trp36=) | |
| 1 | g.229432767C>G | CA345150425 | ACTA1 | c.243G>C (p.Trp81Cys) c.108G>C (p.Trp36Cys) | |
| 1 | g.229432767C>T | CA10588285 | ACTA1 | c.243G>A (p.Trp81Ter) c.108G>A (p.Trp36Ter) | ClinVar dbSNP COSMIC |
| 1 | g.229432768C>A | CA345150429 | ACTA1 | c.242G>T (p.Trp81Leu) c.107G>T (p.Trp36Leu) | |
| 1 | g.229432768C>G | CA345150432 | ACTA1 | c.242G>C (p.Trp81Ser) c.107G>C (p.Trp36Ser) | |
| 1 | g.229432768C>T | CA345150431 | ACTA1 | c.242G>A (p.Trp81Ter) c.107G>A (p.Trp36Ter) | |
| 1 | g.229432769A>C | CA345150433 | ACTA1 | c.241T>G (p.Trp81Gly) c.106T>G (p.Trp36Gly) | |
| 1 | g.229432769A>G | CA345150435 | ACTA1 | c.241T>C (p.Trp81Arg) c.106T>C (p.Trp36Arg) | |
| 1 | g.229432769A>T | CA345150434 | ACTA1 | c.241T>A (p.Trp81Arg) c.106T>A (p.Trp36Arg) | |
| 1 | g.229432770G>A | CA423755398 | ACTA1 | c.240C>T (p.Asn80=) c.105C>T (p.Asn35=) | |
| 1 | g.229432770G>C | CA345150436 | ACTA1 | c.240C>G (p.Asn80Lys) c.105C>G (p.Asn35Lys) | |
| 1 | g.229432770G>T | CA345150438 | ACTA1 | c.240C>A (p.Asn80Lys) c.105C>A (p.Asn35Lys) | |
| 1 | g.229432771T>A | CA345150441 | ACTA1 | c.239A>T (p.Asn80Ile) c.104A>T (p.Asn35Ile) | |
| 1 | g.229432771T>C | CA345150444 | ACTA1 | c.239A>G (p.Asn80Ser) c.104A>G (p.Asn35Ser) | gnomAD v4 |
| 1 | g.229432771T>G | CA345150447 | ACTA1 | c.239A>C (p.Asn80Thr) c.104A>C (p.Asn35Thr) | ClinVar |
| 1 | g.229432772T>A | CA345150449 | ACTA1 | c.238A>T (p.Asn80Tyr) c.103A>T (p.Asn35Tyr) | |
| 1 | g.229432772T>C | CA345150450 | ACTA1 | c.238A>G (p.Asn80Asp) c.103A>G (p.Asn35Asp) | |
| 1 | g.229432772T>G | CA345150454 | ACTA1 | c.238A>C (p.Asn80His) c.103A>C (p.Asn35His) | |
| 1 | g.229432773G>A | CA423755404 | ACTA1 | c.237C>T (p.Thr79=) c.102C>T (p.Thr34=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432773G>C | CA423755405 | ACTA1 | c.237C>G (p.Thr79=) c.102C>G (p.Thr34=) | |
| 1 | g.229432773G= | CA1226125958 | ACTA1 | c.237C= (p.Thr79=) c.102C= (p.Thr34=) | |
| 1 | g.229432773G>T | CA423755406 | ACTA1 | c.237C>A (p.Thr79=) c.102C>A (p.Thr34=) | |
| 1 | g.229432773_229432774delinsT | CA2573051511 | ACTA1 | c.236_237delinsA (p.Thr79LysfsTer?) c.101_102delinsA (p.Thr34LysfsTer?) | ClinVar dbSNP |
| 1 | g.229432774del | CA2573051512 | ACTA1 | c.237del (p.Asn80ThrfsTer?) c.102del (p.Asn35ThrfsTer?) | dbSNP |
| 1 | g.229432774G>A | CA345150456 | ACTA1 | c.236C>T (p.Thr79Ile) c.101C>T (p.Thr34Ile) | ClinVar dbSNP |
| 1 | g.229432774G>C | CA345150458 | ACTA1 | c.236C>G (p.Thr79Ser) c.101C>G (p.Thr34Ser) | |
| 1 | g.229432774G= | CA1226125959 | ACTA1 | c.236C= (p.Thr79=) c.101C= (p.Thr34=) | |
| 1 | g.229432774G>T | CA345150459 | ACTA1 | c.236C>A (p.Thr79Asn) c.101C>A (p.Thr34Asn) | |
| 1 | g.229432775T>A | CA345150464 | ACTA1 | c.235A>T (p.Thr79Ser) c.100A>T (p.Thr34Ser) | |
| 1 | g.229432775T>C | CA345150463 | ACTA1 | c.235A>G (p.Thr79Ala) c.100A>G (p.Thr34Ala) | |
| 1 | g.229432775T>G | CA345150462 | ACTA1 | c.235A>C (p.Thr79Pro) c.100A>C (p.Thr34Pro) | |
| 1 | g.229432776G>A | CA423755411 | ACTA1 | c.234C>T (p.Ile78=) c.99C>T (p.Ile33=) | |
| 1 | g.229432776G>C | CA345150465 | ACTA1 | c.234C>G (p.Ile78Met) c.99C>G (p.Ile33Met) | |
| 1 | g.229432776G>T | CA423755412 | ACTA1 | c.234C>A (p.Ile78=) c.99C>A (p.Ile33=) | |
| 1 | g.229432777A>C | CA345150466 | ACTA1 | c.233T>G (p.Ile78Ser) c.98T>G (p.Ile33Ser) | |
| 1 | g.229432777A>G | CA345150467 | ACTA1 | c.233T>C (p.Ile78Thr) c.98T>C (p.Ile33Thr) | |
| 1 | g.229432777A>T | CA345150469 | ACTA1 | c.233T>A (p.Ile78Asn) c.98T>A (p.Ile33Asn) | |
| 1 | g.229432778T>A | CA345150470 | ACTA1 | c.232A>T (p.Ile78Phe) c.97A>T (p.Ile33Phe) | |
| 1 | g.229432778T>C | CA345150471 | ACTA1 | c.232A>G (p.Ile78Val) c.97A>G (p.Ile33Val) | |
| 1 | g.229432778T>G | CA345150473 | ACTA1 | c.232A>C (p.Ile78Leu) c.97A>C (p.Ile33Leu) | |
| 1 | g.229432779G>A | CA423755419 | ACTA1 | c.231C>T (p.Ile77=) c.96C>T (p.Ile32=) | |
| 1 | g.229432779G>C | CA345150478 | ACTA1 | c.231C>G (p.Ile77Met) c.96C>G (p.Ile32Met) | |
| 1 | g.229432779G>T | CA423755422 | ACTA1 | c.231C>A (p.Ile77=) c.96C>A (p.Ile32=) | |
| 1 | g.229432780A= | CA1226125960 | ACTA1 | c.230T= (p.Ile77=) c.95T= (p.Ile32=) | |
| 1 | g.229432780A>C | CA345150481 | ACTA1 | c.230T>G (p.Ile77Ser) c.95T>G (p.Ile32Ser) | |
| 1 | g.229432780A>G | CA345150486 | ACTA1 | c.230T>C (p.Ile77Thr) c.95T>C (p.Ile32Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432780A>T | CA345150489 | ACTA1 | c.230T>A (p.Ile77Asn) c.95T>A (p.Ile32Asn) | |
| 1 | g.229432781T>A | CA345150501 | ACTA1 | c.229A>T (p.Ile77Phe) c.94A>T (p.Ile32Phe) | |
| 1 | g.229432781T>C | CA345150497 | ACTA1 | c.229A>G (p.Ile77Val) c.94A>G (p.Ile32Val) |