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 |
|---|---|---|---|---|---|
| 5 | g.70936291_70945268del | CA915943371 | SMN1 | c.82-2548_723+515del c.82-2548_628-798del c.82-2548_522+515del c.82-2548_427-798del | ClinVar |
| 5 | g.70942382G>A | CA360093473 | SMN1 | c.298G>A (p.Ala100Thr) c.274-336G>A (n.274-336G>A) | |
| 5 | g.70942382G>C | CA360093476 | SMN1 | c.298G>C (p.Ala100Pro) c.274-336G>C (n.274-336G>C) | |
| 5 | g.70942382G>T | CA360093481 | SMN1 | c.298G>T (p.Ala100Ser) c.274-336G>T (n.274-336G>T) | |
| 5 | g.70942383C>A | CA360093493 | SMN1 | c.299C>A (p.Ala100Asp) c.274-335C>A (n.274-335C>A) | |
| 5 | g.70942383C>G | CA360093490 | SMN1 | c.299C>G (p.Ala100Gly) c.274-335C>G (n.274-335C>G) | |
| 5 | g.70942383C>T | CA360093486 | SMN1 | c.299C>T (p.Ala100Val) c.274-335C>T (n.274-335C>T) | |
| 5 | g.70942384C>A | CA444966086 | SMN1 | c.300C>A (p.Ala100=) c.274-334C>A (n.274-334C>A) | |
| 5 | g.70942384C>G | CA444966077 | SMN1 | c.300C>G (p.Ala100=) c.274-334C>G (n.274-334C>G) | |
| 5 | g.70942384C>T | CA444966081 | SMN1 | c.300C>T (p.Ala100=) c.274-334C>T (n.274-334C>T) | |
| 5 | g.70942385A>C | CA360093497 | SMN1 | c.301A>C (p.Ile101Leu) c.274-333A>C (n.274-333A>C) | |
| 5 | g.70942385A>G | CA360093498 | SMN1 | c.301A>G (p.Ile101Val) c.274-333A>G (n.274-333A>G) | |
| 5 | g.70942385A>T | CA360093502 | SMN1 | c.301A>T (p.Ile101Phe) c.274-333A>T (n.274-333A>T) | |
| 5 | g.70942386T>A | CA360093507 | SMN1 | c.302T>A (p.Ile101Asn) c.274-332T>A (n.274-332T>A) | |
| 5 | g.70942386T>C | CA360093510 | SMN1 | c.302T>C (p.Ile101Thr) c.274-332T>C (n.274-332T>C) | |
| 5 | g.70942386T>G | CA360093520 | SMN1 | c.302T>G (p.Ile101Ser) c.274-332T>G (n.274-332T>G) | |
| 5 | g.70942387T>A | CA444966104 | SMN1 | c.303T>A (p.Ile101=) c.274-331T>A (n.274-331T>A) | |
| 5 | g.70942387T>C | CA444966108 | SMN1 | c.303T>C (p.Ile101=) c.274-331T>C (n.274-331T>C) | |
| 5 | g.70942387T>G | CA360093524 | SMN1 | c.303T>G (p.Ile101Met) c.274-331T>G (n.274-331T>G) | |
| 5 | g.70942388T>A | CA360093530 | SMN1 | c.304T>A (p.Trp102Arg) c.274-330T>A (n.274-330T>A) | |
| 5 | g.70942388T>C | CA360093532 | SMN1 | c.304T>C (p.Trp102Arg) c.274-330T>C (n.274-330T>C) | |
| 5 | g.70942388T>G | CA360093535 | SMN1 | c.304T>G (p.Trp102Gly) c.274-330T>G (n.274-330T>G) | |
| 5 | g.70942389G>A | CA254685 | SMN1 | c.305G>A (p.Trp102Ter) c.274-329G>A (n.274-329G>A) | ClinVar dbSNP |
| 5 | g.70942389G>C | CA360093540 | SMN1 | c.305G>C (p.Trp102Ser) c.274-329G>C (n.274-329G>C) | |
| 5 | g.70942389G= | CA1554171489 | SMN1 | c.305G= (p.Trp102=) c.274-329G= (n.274-329G=) | |
| 5 | g.70942389G>T | CA360093542 | SMN1 | c.305G>T (p.Trp102Leu) c.274-329G>T (n.274-329G>T) | |
| 5 | g.70942390G>A | CA360093747 | SMN1 | c.306G>A (p.Trp102Ter) c.274-328G>A (n.274-328G>A) | |
| 5 | g.70942390G>C | CA360093745 | SMN1 | c.306G>C (p.Trp102Cys) c.274-328G>C (n.274-328G>C) | |
| 5 | g.70942390G>T | CA360093690 | SMN1 | c.306G>T (p.Trp102Cys) c.274-328G>T (n.274-328G>T) | |
| 5 | g.70942391T>A | CA360093754 | SMN1 | c.307T>A (p.Ser103Thr) c.274-327T>A (n.274-327T>A) | |
| 5 | g.70942391T>C | CA360093751 | SMN1 | c.307T>C (p.Ser103Pro) c.274-327T>C (n.274-327T>C) | |
| 5 | g.70942391T>G | CA360093753 | SMN1 | c.307T>G (p.Ser103Ala) c.274-327T>G (n.274-327T>G) | |
| 5 | g.70942392C>A | CA360093755 | SMN1 | c.308C>A (p.Ser103Ter) c.274-326C>A (n.274-326C>A) | |
| 5 | g.70942392C>G | CA360093756 | SMN1 | c.308C>G (p.Ser103Ter) c.274-326C>G (n.274-326C>G) | |
| 5 | g.70942392C>T | CA360093757 | SMN1 | c.308C>T (p.Ser103Leu) c.274-326C>T (n.274-326C>T) | |
| 5 | g.70942393A>C | CA444966188 | SMN1 | c.309A>C (p.Ser103=) c.274-325A>C (n.274-325A>C) | |
| 5 | g.70942393A>G | CA444966191 | SMN1 | c.309A>G (p.Ser103=) c.274-325A>G (n.274-325A>G) | |
| 5 | g.70942393A>T | CA444966194 | SMN1 | c.309A>T (p.Ser103=) c.274-325A>T (n.274-325A>T) | |
| 5 | g.70942394G>A | CA360093760 | SMN1 | c.310G>A (p.Glu104Lys) c.274-324G>A (n.274-324G>A) | |
| 5 | g.70942394G>C | CA360093762 | SMN1 | c.310G>C (p.Glu104Gln) c.274-324G>C (n.274-324G>C) | |
| 5 | g.70942394G>T | CA360093764 | SMN1 | c.310G>T (p.Glu104Ter) c.274-324G>T (n.274-324G>T) | |
| 5 | g.70942395A>C | CA360093767 | SMN1 | c.311A>C (p.Glu104Ala) c.274-323A>C (n.274-323A>C) | |
| 5 | g.70942395A>G | CA360093769 | SMN1 | c.311A>G (p.Glu104Gly) c.274-323A>G (n.274-323A>G) | |
| 5 | g.70942395A>T | CA360093771 | SMN1 | c.311A>T (p.Glu104Val) c.274-323A>T (n.274-323A>T) | |
| 5 | g.70942396dup | CA2695204542 | SMN1 | c.312dup (p.Asp105ArgfsTer13) c.274-322dup (n.274-322dup) | |
| 5 | g.70942396A>C | CA360093774 | SMN1 | c.312A>C (p.Glu104Asp) c.274-322A>C (n.274-322A>C) | |
| 5 | g.70942396A>G | CA444966214 | SMN1 | c.312A>G (p.Glu104=) c.274-322A>G (n.274-322A>G) | |
| 5 | g.70942396A>T | CA360093776 | SMN1 | c.312A>T (p.Glu104Asp) c.274-322A>T (n.274-322A>T) | |
| 5 | g.70942397G>A | CA360093784 | SMN1 | c.313G>A (p.Asp105Asn) c.274-321G>A (n.274-321G>A) | |
| 5 | g.70942397G>C | CA360093782 | SMN1 | c.313G>C (p.Asp105His) c.274-321G>C (n.274-321G>C) |