WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432157C>A | CA345147307 | ACTA1 | c.645G>T (p.Lys215Asn) c.510G>T (p.Lys170Asn) c.479+250G>T (n.479+250G>T) | |
| 1 | g.229432157C= | CA1226125664 | ACTA1 | c.645G= (p.Lys215=) c.510G= (p.Lys170=) c.479+250G= (n.479+250G=) | |
| 1 | g.229432157C>G | CA345147311 | ACTA1 | c.645G>C (p.Lys215Asn) c.510G>C (p.Lys170Asn) c.479+250G>C (n.479+250G>C) | |
| 1 | g.229432157C>T | CA423755241 | ACTA1 | c.645G>A (p.Lys215=) c.510G>A (p.Lys170=) c.479+250G>A (n.479+250G>A) | ClinVar dbSNP |
| 1 | g.229432158T>A | CA345147315 | ACTA1 | c.644A>T (p.Lys215Met) c.509A>T (p.Lys170Met) c.479+249A>T (n.479+249A>T) | |
| 1 | g.229432158T>C | CA345147317 | ACTA1 | c.644A>G (p.Lys215Arg) c.509A>G (p.Lys170Arg) c.479+249A>G (n.479+249A>G) | |
| 1 | g.229432158T>G | CA345147319 | ACTA1 | c.644A>C (p.Lys215Thr) c.509A>C (p.Lys170Thr) c.479+249A>C (n.479+249A>C) | |
| 1 | g.229432159T>A | CA345147325 | ACTA1 | c.643A>T (p.Lys215Ter) c.508A>T (p.Lys170Ter) c.479+248A>T (n.479+248A>T) | |
| 1 | g.229432159T>C | CA345147327 | ACTA1 | c.643A>G (p.Lys215Glu) c.508A>G (p.Lys170Glu) c.479+248A>G (n.479+248A>G) | dbSNP |
| 1 | g.229432159T>G | CA345147322 | ACTA1 | c.643A>C (p.Lys215Gln) c.508A>C (p.Lys170Gln) c.479+248A>C (n.479+248A>C) | |
| 1 | g.229432159T= | CA1226125665 | ACTA1 | c.643A= (p.Lys215=) c.508A= (p.Lys170=) c.479+248A= (n.479+248A=) | |
| 1 | g.229432160G>A | CA423755244 | ACTA1 | c.642C>T (p.Ile214=) c.507C>T (p.Ile169=) c.479+247C>T (n.479+247C>T) | |
| 1 | g.229432160G>C | CA345147329 | ACTA1 | c.642C>G (p.Ile214Met) c.507C>G (p.Ile169Met) c.479+247C>G (n.479+247C>G) | COSMIC |
| 1 | g.229432160G>T | CA423755245 | ACTA1 | c.642C>A (p.Ile214=) c.507C>A (p.Ile169=) c.479+247C>A (n.479+247C>A) | |
| 1 | g.229432161A>C | CA345147334 | ACTA1 | c.641T>G (p.Ile214Ser) c.506T>G (p.Ile169Ser) c.479+246T>G (n.479+246T>G) | |
| 1 | g.229432161A>G | CA345147337 | ACTA1 | c.641T>C (p.Ile214Thr) c.506T>C (p.Ile169Thr) c.479+246T>C (n.479+246T>C) | |
| 1 | g.229432161A>T | CA345147338 | ACTA1 | c.641T>A (p.Ile214Asn) c.506T>A (p.Ile169Asn) c.479+246T>A (n.479+246T>A) | |
| 1 | g.229432162T>A | CA345147342 | ACTA1 | c.640A>T (p.Ile214Phe) c.505A>T (p.Ile169Phe) c.479+245A>T (n.479+245A>T) | |
| 1 | g.229432162T>C | CA345147344 | ACTA1 | c.640A>G (p.Ile214Val) c.505A>G (p.Ile169Val) c.479+245A>G (n.479+245A>G) | ClinVar |
| 1 | g.229432162T>G | CA345147350 | ACTA1 | c.640A>C (p.Ile214Leu) c.505A>C (p.Ile169Leu) c.479+245A>C (n.479+245A>C) | |
| 1 | g.229432163G>A | CA423755246 | ACTA1 | c.639C>T (p.Asp213=) c.504C>T (p.Asp168=) c.479+244C>T (n.479+244C>T) | |
| 1 | g.229432163G>C | CA345147355 | ACTA1 | c.639C>G (p.Asp213Glu) c.504C>G (p.Asp168Glu) c.479+244C>G (n.479+244C>G) | |
| 1 | g.229432163G>T | CA345147353 | ACTA1 | c.639C>A (p.Asp213Glu) c.504C>A (p.Asp168Glu) c.479+244C>A (n.479+244C>A) | |
| 1 | g.229432164T>A | CA345147362 | ACTA1 | c.638A>T (p.Asp213Val) c.503A>T (p.Asp168Val) c.479+243A>T (n.479+243A>T) | |
| 1 | g.229432164T>C | CA345147365 | ACTA1 | c.638A>G (p.Asp213Gly) c.503A>G (p.Asp168Gly) c.479+243A>G (n.479+243A>G) | COSMIC |
| 1 | g.229432164T>G | CA345147369 | ACTA1 | c.638A>C (p.Asp213Ala) c.503A>C (p.Asp168Ala) c.479+243A>C (n.479+243A>C) | |
| 1 | g.229432165C>A | CA345147372 | ACTA1 | c.637G>T (p.Asp213Tyr) c.502G>T (p.Asp168Tyr) c.479+242G>T (n.479+242G>T) | |
| 1 | g.229432165C= | CA1226125666 | ACTA1 | c.637G= (p.Asp213=) c.502G= (p.Asp168=) c.479+242G= (n.479+242G=) | |
| 1 | g.229432165C>G | CA345147376 | ACTA1 | c.637G>C (p.Asp213His) c.502G>C (p.Asp168His) c.479+242G>C (n.479+242G>C) | |
| 1 | g.229432165C>T | CA345147378 | ACTA1 | c.637G>A (p.Asp213Asn) c.502G>A (p.Asp168Asn) c.479+242G>A (n.479+242G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432166G>A | CA423755252 | ACTA1 | c.636C>T (p.Arg212=) c.501C>T (p.Arg167=) c.479+241C>T (n.479+241C>T) | |
| 1 | g.229432166G>C | CA423755253 | ACTA1 | c.636C>G (p.Arg212=) c.501C>G (p.Arg167=) c.479+241C>G (n.479+241C>G) | |
| 1 | g.229432166G>T | CA423755255 | ACTA1 | c.636C>A (p.Arg212=) c.501C>A (p.Arg167=) c.479+241C>A (n.479+241C>A) | |
| 1 | g.229432167C>A | CA345147390 | ACTA1 | c.635G>T (p.Arg212Leu) c.500G>T (p.Arg167Leu) c.479+240G>T (n.479+240G>T) | |
| 1 | g.229432167C>G | CA345147383 | ACTA1 | c.635G>C (p.Arg212Pro) c.500G>C (p.Arg167Pro) c.479+240G>C (n.479+240G>C) | |
| 1 | g.229432167C>T | CA345147386 | ACTA1 | c.635G>A (p.Arg212His) c.500G>A (p.Arg167His) c.479+240G>A (n.479+240G>A) | |
| 1 | g.229432168G>A | CA345147393 | ACTA1 | c.634C>T (p.Arg212Cys) c.499C>T (p.Arg167Cys) c.479+239C>T (n.479+239C>T) | |
| 1 | g.229432168G>C | CA345147394 | ACTA1 | c.634C>G (p.Arg212Gly) c.499C>G (p.Arg167Gly) c.479+239C>G (n.479+239C>G) | |
| 1 | g.229432168G>T | CA345147396 | ACTA1 | c.634C>A (p.Arg212Ser) c.499C>A (p.Arg167Ser) c.479+239C>A (n.479+239C>A) | COSMIC |
| 1 | g.229432169C>A | CA423755258 | ACTA1 | c.633G>T (p.Val211=) c.498G>T (p.Val166=) c.479+238G>T (n.479+238G>T) | |
| 1 | g.229432169C= | CA1226125667 | ACTA1 | c.633G= (p.Val211=) c.498G= (p.Val166=) c.479+238G= (n.479+238G=) | |
| 1 | g.229432169C>G | CA423755260 | ACTA1 | c.633G>C (p.Val211=) c.498G>C (p.Val166=) c.479+238G>C (n.479+238G>C) | |
| 1 | g.229432169C>T | CA38815744 | ACTA1 | c.633G>A (p.Val211=) c.498G>A (p.Val166=) c.479+238G>A (n.479+238G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432170A>C | CA345147398 | ACTA1 | c.632T>G (p.Val211Gly) c.497T>G (p.Val166Gly) c.479+237T>G (n.479+237T>G) | |
| 1 | g.229432170A>G | CA345147399 | ACTA1 | c.632T>C (p.Val211Ala) c.497T>C (p.Val166Ala) c.479+237T>C (n.479+237T>C) | |
| 1 | g.229432170A>T | CA345147403 | ACTA1 | c.632T>A (p.Val211Glu) c.497T>A (p.Val166Glu) c.479+237T>A (n.479+237T>A) | |
| 1 | g.229432171C>A | CA345147407 | ACTA1 | c.631G>T (p.Val211Leu) c.496G>T (p.Val166Leu) c.479+236G>T (n.479+236G>T) | |
| 1 | g.229432171C>G | CA345147409 | ACTA1 | c.631G>C (p.Val211Leu) c.496G>C (p.Val166Leu) c.479+236G>C (n.479+236G>C) | gnomAD v4 |
| 1 | g.229432171C>T | CA345147413 | ACTA1 | c.631G>A (p.Val211Met) c.496G>A (p.Val166Met) c.479+236G>A (n.479+236G>A) | COSMIC |
| 1 | g.229432172G>A | CA423755263 | ACTA1 | c.630C>T (p.Ile210=) c.495C>T (p.Ile165=) c.479+235C>T (n.479+235C>T) | dbSNP gnomAD v4 |