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 |
|---|---|---|---|---|---|
| 19 | g.38585054_38585074dup | CA2697556505 | RYR1 | c.1694_1714dup c.3091_3111dup c.3063_3083dup n.151_171dup c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle) c.14743_14763dup (p.Ile4921_Val4922insThrPhePhePhePheValIle) c.14740_14760dup (p.Ile4920_Val4921insThrPhePhePhePheValIle) c.14725_14745dup (p.Ile4915_Val4916insThrPhePhePhePheValIle) c.14755_14775dup (p.Ile4925_Val4926insThrPhePhePhePheValIle) c.14671_14691dup (p.Ile4897_Val4898insThrPhePhePhePheValIle) | ClinVar |
| 19 | g.38585066_38585072delinsTTCGTCA | CA2335094992 | RYR1 | c.1706_1712delinsTTCGTCA c.3103_3109delinsTTCGTCA c.3075_3081delinsTTCGTCA n.163_169delinsTTCGTCA c.14770_14776delinsTTCGTCA (p.Phe4924=) c.14755_14761delinsTTCGTCA (p.Phe4919=) c.14752_14758delinsTTCGTCA (p.Phe4918=) c.14737_14743delinsTTCGTCA (p.Phe4913=) c.14767_14773delinsTTCGTCA (p.Phe4923=) c.14683_14689delinsTTCGTCA (p.Phe4895=) | |
| 19 | g.38585075_38585080del | CA024253 | RYR1 | c.1715_1720del c.3112_3117del c.3084_3089del n.172_177del c.14779_14784del (p.Val4927_Ile4928del) c.14764_14769del (p.Val4922_Ile4923del) c.14761_14766del (p.Val4921_Ile4922del) c.14746_14751del (p.Val4916_Ile4917del) c.14776_14781del (p.Val4926_Ile4927del) c.14692_14697del (p.Val4898_Ile4899del) | ClinVar dbSNP |
| 19 | g.38585069G>A | CA308125606 | RYR1 | c.1709G>A c.3106G>A c.3078G>A n.166G>A c.14773G>A (p.Val4925Ile) c.14758G>A (p.Val4920Ile) c.14755G>A (p.Val4919Ile) c.14740G>A (p.Val4914Ile) c.14770G>A (p.Val4924Ile) c.14686G>A (p.Val4896Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38585069G>C | CA405690976 | RYR1 | c.1709G>C c.3106G>C c.3078G>C n.166G>C c.14773G>C (p.Val4925Leu) c.14758G>C (p.Val4920Leu) c.14755G>C (p.Val4919Leu) c.14740G>C (p.Val4914Leu) c.14770G>C (p.Val4924Leu) c.14686G>C (p.Val4896Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38585069G= | CA2335094994 | RYR1 | c.1709G= c.3106G= c.3078G= n.166G= c.14773G= (p.Val4925=) c.14758G= (p.Val4920=) c.14755G= (p.Val4919=) c.14740G= (p.Val4914=) c.14770G= (p.Val4924=) c.14686G= (p.Val4896=) | |
| 19 | g.38585069G>T | CA405690980 | RYR1 | c.1709G>T c.3106G>T c.3078G>T n.166G>T c.14773G>T (p.Val4925Phe) c.14758G>T (p.Val4920Phe) c.14755G>T (p.Val4919Phe) c.14740G>T (p.Val4914Phe) c.14770G>T (p.Val4924Phe) c.14686G>T (p.Val4896Phe) | |
| 19 | g.38585070T>A | CA405690983 | RYR1 | c.1710T>A c.3107T>A c.3079T>A n.167T>A c.14774T>A (p.Val4925Asp) c.14759T>A (p.Val4920Asp) c.14756T>A (p.Val4919Asp) c.14741T>A (p.Val4914Asp) c.14771T>A (p.Val4924Asp) c.14687T>A (p.Val4896Asp) | |
| 19 | g.38585070T>C | CA405690981 | RYR1 | c.1710T>C c.3107T>C c.3079T>C n.167T>C c.14774T>C (p.Val4925Ala) c.14759T>C (p.Val4920Ala) c.14756T>C (p.Val4919Ala) c.14741T>C (p.Val4914Ala) c.14771T>C (p.Val4924Ala) c.14687T>C (p.Val4896Ala) | |
| 19 | g.38585070T>G | CA405690982 | RYR1 | c.1710T>G c.3107T>G c.3079T>G n.167T>G c.14774T>G (p.Val4925Gly) c.14759T>G (p.Val4920Gly) c.14756T>G (p.Val4919Gly) c.14741T>G (p.Val4914Gly) c.14771T>G (p.Val4924Gly) c.14687T>G (p.Val4896Gly) | |
| 19 | g.38585072_38585074del | CA2695228719 | RYR1 | c.1712_1714del c.3109_3111del c.3081_3083del n.169_171del c.14776_14778del (p.Ile4926del) c.14761_14763del (p.Ile4921del) c.14758_14760del (p.Ile4920del) c.14743_14745del (p.Ile4915del) c.14773_14775del (p.Ile4925del) c.14689_14691del (p.Ile4897del) | ClinVar |
| 19 | g.38585071C>A | CA507246405 | RYR1 | c.1711C>A c.3108C>A c.3080C>A n.168C>A c.14775C>A (p.Val4925=) c.14760C>A (p.Val4920=) c.14757C>A (p.Val4919=) c.14742C>A (p.Val4914=) c.14772C>A (p.Val4924=) c.14688C>A (p.Val4896=) | |
| 19 | g.38585071C>G | CA507246407 | RYR1 | c.1711C>G c.3108C>G c.3080C>G n.168C>G c.14775C>G (p.Val4925=) c.14760C>G (p.Val4920=) c.14757C>G (p.Val4919=) c.14742C>G (p.Val4914=) c.14772C>G (p.Val4924=) c.14688C>G (p.Val4896=) | |
| 19 | g.38585071C>T | CA081312 | RYR1 | c.1711C>T c.3108C>T c.3080C>T n.168C>T c.14775C>T (p.Val4925=) c.14760C>T (p.Val4920=) c.14757C>T (p.Val4919=) c.14742C>T (p.Val4914=) c.14772C>T (p.Val4924=) c.14688C>T (p.Val4896=) | |
| 19 | g.38585072A= | CA2335094995 | RYR1 | c.1712A= c.3109A= c.3081A= n.169A= c.14776A= (p.Ile4926=) c.14761A= (p.Ile4921=) c.14758A= (p.Ile4920=) c.14743A= (p.Ile4915=) c.14773A= (p.Ile4925=) c.14689A= (p.Ile4897=) | |
| 19 | g.38585072A>C | CA405690985 | RYR1 | c.1712A>C c.3109A>C c.3081A>C n.169A>C c.14776A>C (p.Ile4926Leu) c.14761A>C (p.Ile4921Leu) c.14758A>C (p.Ile4920Leu) c.14743A>C (p.Ile4915Leu) c.14773A>C (p.Ile4925Leu) c.14689A>C (p.Ile4897Leu) | |
| 19 | g.38585072A>G | CA061587 | RYR1 | c.1712A>G c.3109A>G c.3081A>G n.169A>G c.14776A>G (p.Ile4926Val) c.14761A>G (p.Ile4921Val) c.14758A>G (p.Ile4920Val) c.14743A>G (p.Ile4915Val) c.14773A>G (p.Ile4925Val) c.14689A>G (p.Ile4897Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38585072A>T | CA405690989 | RYR1 | c.1712A>T c.3109A>T c.3081A>T n.169A>T c.14776A>T (p.Ile4926Phe) c.14761A>T (p.Ile4921Phe) c.14758A>T (p.Ile4920Phe) c.14743A>T (p.Ile4915Phe) c.14773A>T (p.Ile4925Phe) c.14689A>T (p.Ile4897Phe) | |
| 19 | g.38585073T>A | CA405690996 | RYR1 | c.1713T>A c.3110T>A c.3082T>A n.170T>A c.14777T>A (p.Ile4926Asn) c.14762T>A (p.Ile4921Asn) c.14759T>A (p.Ile4920Asn) c.14744T>A (p.Ile4915Asn) c.14774T>A (p.Ile4925Asn) c.14690T>A (p.Ile4897Asn) | |
| 19 | g.38585073T>C | CA405691003 | RYR1 | c.1713T>C c.3110T>C c.3082T>C n.170T>C c.14777T>C (p.Ile4926Thr) c.14762T>C (p.Ile4921Thr) c.14759T>C (p.Ile4920Thr) c.14744T>C (p.Ile4915Thr) c.14774T>C (p.Ile4925Thr) c.14690T>C (p.Ile4897Thr) | |
| 19 | g.38585073T>G | CA405691006 | RYR1 | c.1713T>G c.3110T>G c.3082T>G n.170T>G c.14777T>G (p.Ile4926Ser) c.14762T>G (p.Ile4921Ser) c.14759T>G (p.Ile4920Ser) c.14744T>G (p.Ile4915Ser) c.14774T>G (p.Ile4925Ser) c.14690T>G (p.Ile4897Ser) | |
| 19 | g.38585074C>A | CA507246413 | RYR1 | c.1714C>A c.3111C>A c.3083C>A n.171C>A c.14778C>A (p.Ile4926=) c.14763C>A (p.Ile4921=) c.14760C>A (p.Ile4920=) c.14745C>A (p.Ile4915=) c.14775C>A (p.Ile4925=) c.14691C>A (p.Ile4897=) | |
| 19 | g.38585074C= | CA2335094996 | RYR1 | c.1714C= c.3111C= c.3083C= n.171C= c.14778C= (p.Ile4926=) c.14763C= (p.Ile4921=) c.14760C= (p.Ile4920=) c.14745C= (p.Ile4915=) c.14775C= (p.Ile4925=) c.14691C= (p.Ile4897=) | |
| 19 | g.38585074C>G | CA405691010 | RYR1 | c.1714C>G c.3111C>G c.3083C>G n.171C>G c.14778C>G (p.Ile4926Met) c.14763C>G (p.Ile4921Met) c.14760C>G (p.Ile4920Met) c.14745C>G (p.Ile4915Met) c.14775C>G (p.Ile4925Met) c.14691C>G (p.Ile4897Met) | |
| 19 | g.38585074C>T | CA061589 | RYR1 | c.1714C>T c.3111C>T c.3083C>T n.171C>T c.14778C>T (p.Ile4926=) c.14763C>T (p.Ile4921=) c.14760C>T (p.Ile4920=) c.14745C>T (p.Ile4915=) c.14775C>T (p.Ile4925=) c.14691C>T (p.Ile4897=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585074_38585083delinsCGTCATCCTG | CA2335094997 | RYR1 | c.1714_1723delinsCGTCATCCTG c.3111_3120delinsCGTCATCCTG c.3083_3092delinsCGTCATCCTG n.171_180delinsCGTCATCCTG c.14778_14787delinsCGTCATCCTG (p.Ile4926=) c.14763_14772delinsCGTCATCCTG (p.Ile4921=) c.14760_14769delinsCGTCATCCTG (p.Ile4920=) c.14745_14754delinsCGTCATCCTG (p.Ile4915=) c.14775_14784delinsCGTCATCCTG (p.Ile4925=) c.14691_14700delinsCGTCATCCTG (p.Ile4897=) | |
| 19 | g.38585075G>A | CA061593 | RYR1 | c.1715G>A c.3112G>A c.3084G>A n.172G>A c.14779G>A (p.Val4927Ile) c.14764G>A (p.Val4922Ile) c.14761G>A (p.Val4921Ile) c.14746G>A (p.Val4916Ile) c.14776G>A (p.Val4926Ile) c.14692G>A (p.Val4898Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585075G>C | CA405691022 | RYR1 | c.1715G>C c.3112G>C c.3084G>C n.172G>C c.14779G>C (p.Val4927Leu) c.14764G>C (p.Val4922Leu) c.14761G>C (p.Val4921Leu) c.14746G>C (p.Val4916Leu) c.14776G>C (p.Val4926Leu) c.14692G>C (p.Val4898Leu) | |
| 19 | g.38585075G= | CA2335094998 | RYR1 | c.1715G= c.3112G= c.3084G= n.172G= c.14779G= (p.Val4927=) c.14764G= (p.Val4922=) c.14761G= (p.Val4921=) c.14746G= (p.Val4916=) c.14776G= (p.Val4926=) c.14692G= (p.Val4898=) | |
| 19 | g.38585075G>T | CA024257 | RYR1 | c.1715G>T c.3112G>T c.3084G>T n.172G>T c.14779G>T (p.Val4927Phe) c.14764G>T (p.Val4922Phe) c.14761G>T (p.Val4921Phe) c.14746G>T (p.Val4916Phe) c.14776G>T (p.Val4926Phe) c.14692G>T (p.Val4898Phe) | ClinVar dbSNP |
| 19 | g.38585075_38585083del | CA308125626 | RYR1 | c.1715_1723del c.3112_3120del c.3084_3092del n.172_180del c.14779_14787del (p.Val4927_Leu4929del) c.14764_14772del (p.Val4922_Leu4924del) c.14761_14769del (p.Val4921_Leu4923del) c.14746_14754del (p.Val4916_Leu4918del) c.14776_14784del (p.Val4926_Leu4928del) c.14692_14700del (p.Val4898_Leu4900del) | dbSNP |
| 19 | g.38585076T>A | CA405691040 | RYR1 | c.1716T>A c.3113T>A c.3085T>A n.173T>A c.14780T>A (p.Val4927Asp) c.14765T>A (p.Val4922Asp) c.14762T>A (p.Val4921Asp) c.14747T>A (p.Val4916Asp) c.14777T>A (p.Val4926Asp) c.14693T>A (p.Val4898Asp) | |
| 19 | g.38585076T>C | CA405691045 | RYR1 | c.1716T>C c.3113T>C c.3085T>C n.173T>C c.14780T>C (p.Val4927Ala) c.14765T>C (p.Val4922Ala) c.14762T>C (p.Val4921Ala) c.14747T>C (p.Val4916Ala) c.14777T>C (p.Val4926Ala) c.14693T>C (p.Val4898Ala) | |
| 19 | g.38585076T>G | CA405691048 | RYR1 | c.1716T>G c.3113T>G c.3085T>G n.173T>G c.14780T>G (p.Val4927Gly) c.14765T>G (p.Val4922Gly) c.14762T>G (p.Val4921Gly) c.14747T>G (p.Val4916Gly) c.14777T>G (p.Val4926Gly) c.14693T>G (p.Val4898Gly) | |
| 19 | g.38585077C>A | CA507246416 | RYR1 | c.1717C>A c.3114C>A c.3086C>A n.174C>A c.14781C>A (p.Val4927=) c.14766C>A (p.Val4922=) c.14763C>A (p.Val4921=) c.14748C>A (p.Val4916=) c.14778C>A (p.Val4926=) c.14694C>A (p.Val4898=) | gnomAD v4 |
| 19 | g.38585077C>G | CA507246417 | RYR1 | c.1717C>G c.3114C>G c.3086C>G n.174C>G c.14781C>G (p.Val4927=) c.14766C>G (p.Val4922=) c.14763C>G (p.Val4921=) c.14748C>G (p.Val4916=) c.14778C>G (p.Val4926=) c.14694C>G (p.Val4898=) | |
| 19 | g.38585077C>T | CA081314 | RYR1 | c.1717C>T c.3114C>T c.3086C>T n.174C>T c.14781C>T (p.Val4927=) c.14766C>T (p.Val4922=) c.14763C>T (p.Val4921=) c.14748C>T (p.Val4916=) c.14778C>T (p.Val4926=) c.14694C>T (p.Val4898=) | |
| 19 | g.38585078A= | CA2335094999 | RYR1 | c.1718A= c.3115A= c.3087A= n.175A= c.14782A= (p.Ile4928=) c.14767A= (p.Ile4923=) c.14764A= (p.Ile4922=) c.14749A= (p.Ile4917=) c.14779A= (p.Ile4927=) c.14695A= (p.Ile4899=) | |
| 19 | g.38585078A>C | CA405691054 | RYR1 | c.1718A>C c.3115A>C c.3087A>C n.175A>C c.14782A>C (p.Ile4928Leu) c.14767A>C (p.Ile4923Leu) c.14764A>C (p.Ile4922Leu) c.14749A>C (p.Ile4917Leu) c.14779A>C (p.Ile4927Leu) c.14695A>C (p.Ile4899Leu) | |
| 19 | g.38585078A>G | CA405691060 | RYR1 | c.1718A>G c.3115A>G c.3087A>G n.175A>G c.14782A>G (p.Ile4928Val) c.14767A>G (p.Ile4923Val) c.14764A>G (p.Ile4922Val) c.14749A>G (p.Ile4917Val) c.14779A>G (p.Ile4927Val) c.14695A>G (p.Ile4899Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585078A>T | CA405691064 | RYR1 | c.1718A>T c.3115A>T c.3087A>T n.175A>T c.14782A>T (p.Ile4928Phe) c.14767A>T (p.Ile4923Phe) c.14764A>T (p.Ile4922Phe) c.14749A>T (p.Ile4917Phe) c.14779A>T (p.Ile4927Phe) c.14695A>T (p.Ile4899Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585079T>A | CA405691071 | RYR1 | c.1719T>A c.3116T>A c.3088T>A n.176T>A c.14783T>A (p.Ile4928Asn) c.14768T>A (p.Ile4923Asn) c.14765T>A (p.Ile4922Asn) c.14750T>A (p.Ile4917Asn) c.14780T>A (p.Ile4927Asn) c.14696T>A (p.Ile4899Asn) | ClinVar |
| 19 | g.38585079T>C | CA405691086 | RYR1 | c.1719T>C c.3116T>C c.3088T>C n.176T>C c.14783T>C (p.Ile4928Thr) c.14768T>C (p.Ile4923Thr) c.14765T>C (p.Ile4922Thr) c.14750T>C (p.Ile4917Thr) c.14780T>C (p.Ile4927Thr) c.14696T>C (p.Ile4899Thr) | |
| 19 | g.38585079T>G | CA405691085 | RYR1 | c.1719T>G c.3116T>G c.3088T>G n.176T>G c.14783T>G (p.Ile4928Ser) c.14768T>G (p.Ile4923Ser) c.14765T>G (p.Ile4922Ser) c.14750T>G (p.Ile4917Ser) c.14780T>G (p.Ile4927Ser) c.14696T>G (p.Ile4899Ser) | |
| 19 | g.38585080C>A | CA507246419 | RYR1 | c.1720C>A c.3117C>A c.3089C>A n.177C>A c.14784C>A (p.Ile4928=) c.14769C>A (p.Ile4923=) c.14766C>A (p.Ile4922=) c.14751C>A (p.Ile4917=) c.14781C>A (p.Ile4927=) c.14697C>A (p.Ile4899=) | |
| 19 | g.38585080C= | CA2335095000 | RYR1 | c.1720C= c.3117C= c.3089C= n.177C= c.14784C= (p.Ile4928=) c.14769C= (p.Ile4923=) c.14766C= (p.Ile4922=) c.14751C= (p.Ile4917=) c.14781C= (p.Ile4927=) c.14697C= (p.Ile4899=) | |
| 19 | g.38585080C>G | CA061595 | RYR1 | c.1720C>G c.3117C>G c.3089C>G n.177C>G c.14784C>G (p.Ile4928Met) c.14769C>G (p.Ile4923Met) c.14766C>G (p.Ile4922Met) c.14751C>G (p.Ile4917Met) c.14781C>G (p.Ile4927Met) c.14697C>G (p.Ile4899Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585080C>T | CA507246420 | RYR1 | c.1720C>T c.3117C>T c.3089C>T n.177C>T c.14784C>T (p.Ile4928=) c.14769C>T (p.Ile4923=) c.14766C>T (p.Ile4922=) c.14751C>T (p.Ile4917=) c.14781C>T (p.Ile4927=) c.14697C>T (p.Ile4899=) | gnomAD v4 |
| 19 | g.38585081C>A | CA405691098 | RYR1 | c.1721C>A c.3118C>A c.3090C>A n.178C>A c.14785C>A (p.Leu4929Met) c.14770C>A (p.Leu4924Met) c.14767C>A (p.Leu4923Met) c.14752C>A (p.Leu4918Met) c.14782C>A (p.Leu4928Met) c.14698C>A (p.Leu4900Met) | |
| 19 | g.38585081C>G | CA405691101 | RYR1 | c.1721C>G c.3118C>G c.3090C>G n.178C>G c.14785C>G (p.Leu4929Val) c.14770C>G (p.Leu4924Val) c.14767C>G (p.Leu4923Val) c.14752C>G (p.Leu4918Val) c.14782C>G (p.Leu4928Val) c.14698C>G (p.Leu4900Val) |