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.229432041T>A | CA345146625 | ACTA1 | c.761A>T (p.Asn254Ile) c.626A>T (p.Asn209Ile) c.480-179A>T (n.480-179A>T) | |
| 1 | g.229432041T>C | CA345146628 | ACTA1 | c.761A>G (p.Asn254Ser) c.626A>G (p.Asn209Ser) c.480-179A>G (n.480-179A>G) | |
| 1 | g.229432041T>G | CA345146630 | ACTA1 | c.761A>C (p.Asn254Thr) c.626A>C (p.Asn209Thr) c.480-179A>C (n.480-179A>C) | |
| 1 | g.229432042T>A | CA345146633 | ACTA1 | c.760A>T (p.Asn254Tyr) c.625A>T (p.Asn209Tyr) c.480-180A>T (n.480-180A>T) | |
| 1 | g.229432042T>C | CA345146636 | ACTA1 | c.760A>G (p.Asn254Asp) c.625A>G (p.Asn209Asp) c.480-180A>G (n.480-180A>G) | |
| 1 | g.229432042T>G | CA345146638 | ACTA1 | c.760A>C (p.Asn254His) c.625A>C (p.Asn209His) c.480-180A>C (n.480-180A>C) | |
| 1 | g.229432043G>A | CA423754992 | ACTA1 | c.759C>T (p.Gly253=) c.624C>T (p.Gly208=) c.480-181C>T (n.480-181C>T) | |
| 1 | g.229432043G>C | CA423754994 | ACTA1 | c.759C>G (p.Gly253=) c.624C>G (p.Gly208=) c.480-181C>G (n.480-181C>G) | dbSNP |
| 1 | g.229432043G= | CA1226125625 | ACTA1 | c.759C= (p.Gly253=) c.624C= (p.Gly208=) c.480-181C= (n.480-181C=) | |
| 1 | g.229432043G>T | CA423754993 | ACTA1 | c.759C>A (p.Gly253=) c.624C>A (p.Gly208=) c.480-181C>A (n.480-181C>A) | |
| 1 | g.229432044C>A | CA345146641 | ACTA1 | c.758G>T (p.Gly253Val) c.623G>T (p.Gly208Val) c.480-182G>T (n.480-182G>T) | |
| 1 | g.229432044C>G | CA345146643 | ACTA1 | c.758G>C (p.Gly253Ala) c.623G>C (p.Gly208Ala) c.480-182G>C (n.480-182G>C) | |
| 1 | g.229432044C>T | CA345146645 | ACTA1 | c.758G>A (p.Gly253Asp) c.623G>A (p.Gly208Asp) c.480-182G>A (n.480-182G>A) | ClinVar |
| 1 | g.229432045C>A | CA345146649 | ACTA1 | c.757G>T (p.Gly253Cys) c.622G>T (p.Gly208Cys) c.480-183G>T (n.480-183G>T) | ClinVar dbSNP |
| 1 | g.229432045C>G | CA345146651 | ACTA1 | c.757G>C (p.Gly253Arg) c.622G>C (p.Gly208Arg) c.480-183G>C (n.480-183G>C) | gnomAD v4 |
| 1 | g.229432045C>T | CA345146652 | ACTA1 | c.757G>A (p.Gly253Ser) c.622G>A (p.Gly208Ser) c.480-183G>A (n.480-183G>A) | COSMIC |
| 1 | g.229432046G>A | CA423754997 | ACTA1 | c.756C>T (p.Ile252=) c.621C>T (p.Ile207=) c.480-184C>T (n.480-184C>T) | dbSNP gnomAD v4 COSMIC |
| 1 | g.229432046G>C | CA345146657 | ACTA1 | c.756C>G (p.Ile252Met) c.621C>G (p.Ile207Met) c.480-184C>G (n.480-184C>G) | COSMIC |
| 1 | g.229432046G= | CA1226125626 | ACTA1 | c.756C= (p.Ile252=) c.621C= (p.Ile207=) c.480-184C= (n.480-184C=) | |
| 1 | g.229432046G>T | CA423754996 | ACTA1 | c.756C>A (p.Ile252=) c.621C>A (p.Ile207=) c.480-184C>A (n.480-184C>A) | gnomAD v4 |
| 1 | g.229432047A>C | CA345146661 | ACTA1 | c.755T>G (p.Ile252Ser) c.620T>G (p.Ile207Ser) c.480-185T>G (n.480-185T>G) | |
| 1 | g.229432047A>G | CA345146663 | ACTA1 | c.755T>C (p.Ile252Thr) c.620T>C (p.Ile207Thr) c.480-185T>C (n.480-185T>C) | |
| 1 | g.229432047A>T | CA345146665 | ACTA1 | c.755T>A (p.Ile252Asn) c.620T>A (p.Ile207Asn) c.480-185T>A (n.480-185T>A) | |
| 1 | g.229432048T>A | CA345146668 | ACTA1 | c.754A>T (p.Ile252Phe) c.619A>T (p.Ile207Phe) c.480-186A>T (n.480-186A>T) | |
| 1 | g.229432048T>C | CA345146669 | ACTA1 | c.754A>G (p.Ile252Val) c.619A>G (p.Ile207Val) c.480-186A>G (n.480-186A>G) | gnomAD v4 |
| 1 | g.229432048T>G | CA345146670 | ACTA1 | c.754A>C (p.Ile252Leu) c.619A>C (p.Ile207Leu) c.480-186A>C (n.480-186A>C) | |
| 1 | g.229432049G>A | CA423755002 | ACTA1 | c.753C>T (p.Thr251=) c.618C>T (p.Thr206=) c.480-187C>T (n.480-187C>T) | gnomAD v4 |
| 1 | g.229432049G>C | CA423755004 | ACTA1 | c.753C>G (p.Thr251=) c.618C>G (p.Thr206=) c.480-187C>G (n.480-187C>G) | |
| 1 | g.229432049G>T | CA423755000 | ACTA1 | c.753C>A (p.Thr251=) c.618C>A (p.Thr206=) c.480-187C>A (n.480-187C>A) | |
| 1 | g.229432050G>A | CA345146673 | ACTA1 | c.752C>T (p.Thr251Ile) c.617C>T (p.Thr206Ile) c.480-188C>T (n.480-188C>T) | |
| 1 | g.229432050G>C | CA345146676 | ACTA1 | c.752C>G (p.Thr251Ser) c.617C>G (p.Thr206Ser) c.480-188C>G (n.480-188C>G) | |
| 1 | g.229432050G>T | CA345146678 | ACTA1 | c.752C>A (p.Thr251Asn) c.617C>A (p.Thr206Asn) c.480-188C>A (n.480-188C>A) | gnomAD v4 |
| 1 | g.229432051T>A | CA345146681 | ACTA1 | c.751A>T (p.Thr251Ser) c.616A>T (p.Thr206Ser) c.480-189A>T (n.480-189A>T) | ClinVar |
| 1 | g.229432051T>C | CA345146684 | ACTA1 | c.751A>G (p.Thr251Ala) c.616A>G (p.Thr206Ala) c.480-189A>G (n.480-189A>G) | |
| 1 | g.229432051T>G | CA345146687 | ACTA1 | c.751A>C (p.Thr251Pro) c.616A>C (p.Thr206Pro) c.480-189A>C (n.480-189A>C) | |
| 1 | g.229432052G>A | CA423755006 | ACTA1 | c.750C>T (p.Ile250=) c.615C>T (p.Ile205=) c.480-190C>T (n.480-190C>T) | |
| 1 | g.229432052G>C | CA345146689 | ACTA1 | c.750C>G (p.Ile250Met) c.615C>G (p.Ile205Met) c.480-190C>G (n.480-190C>G) | |
| 1 | g.229432052G>T | CA423755008 | ACTA1 | c.750C>A (p.Ile250=) c.615C>A (p.Ile205=) c.480-190C>A (n.480-190C>A) | |
| 1 | g.229432053A= | CA1226125627 | ACTA1 | c.749T= (p.Ile250=) c.614T= (p.Ile205=) c.480-191T= (n.480-191T=) | |
| 1 | g.229432053A>C | CA345146697 | ACTA1 | c.749T>G (p.Ile250Ser) c.614T>G (p.Ile205Ser) c.480-191T>G (n.480-191T>G) | |
| 1 | g.229432053A>G | CA345146692 | ACTA1 | c.749T>C (p.Ile250Thr) c.614T>C (p.Ile205Thr) c.480-191T>C (n.480-191T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432053A>T | CA345146695 | ACTA1 | c.749T>A (p.Ile250Asn) c.614T>A (p.Ile205Asn) c.480-191T>A (n.480-191T>A) | |
| 1 | g.229432054T>A | CA345146699 | ACTA1 | c.748A>T (p.Ile250Phe) c.613A>T (p.Ile205Phe) c.480-192A>T (n.480-192A>T) | |
| 1 | g.229432054T>C | CA345146704 | ACTA1 | c.748A>G (p.Ile250Val) c.613A>G (p.Ile205Val) c.480-192A>G (n.480-192A>G) | dbSNP gnomAD v4 |
| 1 | g.229432054T>G | CA345146701 | ACTA1 | c.748A>C (p.Ile250Leu) c.613A>C (p.Ile205Leu) c.480-192A>C (n.480-192A>C) | |
| 1 | g.229432054T= | CA1226125628 | ACTA1 | c.748A= (p.Ile250=) c.613A= (p.Ile205=) c.480-192A= (n.480-192A=) | |
| 1 | g.229432055G>A | CA423755014 | ACTA1 | c.747C>T (p.Val249=) c.612C>T (p.Val204=) c.480-193C>T (n.480-193C>T) | |
| 1 | g.229432055G>C | CA423755015 | ACTA1 | c.747C>G (p.Val249=) c.612C>G (p.Val204=) c.480-193C>G (n.480-193C>G) | |
| 1 | g.229432055G>T | CA423755016 | ACTA1 | c.747C>A (p.Val249=) c.612C>A (p.Val204=) c.480-193C>A (n.480-193C>A) | |
| 1 | g.229432056A>C | CA345146707 | ACTA1 | c.746T>G (p.Val249Gly) c.611T>G (p.Val204Gly) c.480-194T>G (n.480-194T>G) |