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.201065843A>C | CA344101184 | CACNA1S | c.2848T>G (p.Phe950Val) c.*2011T>G (n.*2011T>G) c.*366T>G (n.*366T>G) c.2788T>G (p.Phe930Val) | |
| 1 | g.201065843A>G | CA344101185 | CACNA1S | c.2848T>C (p.Phe950Leu) c.*2011T>C (n.*2011T>C) c.*366T>C (n.*366T>C) c.2788T>C (p.Phe930Leu) | |
| 1 | g.201065843A>T | CA344101186 | CACNA1S | c.2848T>A (p.Phe950Ile) c.*2011T>A (n.*2011T>A) c.*366T>A (n.*366T>A) c.2788T>A (p.Phe930Ile) | |
| 1 | g.201065844G>A | CA422686667 | CACNA1S | c.2847C>T (p.Leu949=) c.*2010C>T (n.*2010C>T) c.*365C>T (n.*365C>T) c.2787C>T (p.Leu929=) | ClinVar gnomAD v4 |
| 1 | g.201065844G>C | CA422686669 | CACNA1S | c.2847C>G (p.Leu949=) c.*2010C>G (n.*2010C>G) c.*365C>G (n.*365C>G) c.2787C>G (p.Leu929=) | |
| 1 | g.201065844G>T | CA422686668 | CACNA1S | c.2847C>A (p.Leu949=) c.*2010C>A (n.*2010C>A) c.*365C>A (n.*365C>A) c.2787C>A (p.Leu929=) | |
| 1 | g.201065845A>C | CA344101188 | CACNA1S | c.2846T>G (p.Leu949Arg) c.*2009T>G (n.*2009T>G) c.*364T>G (n.*364T>G) c.2786T>G (p.Leu929Arg) | |
| 1 | g.201065845A>G | CA344101189 | CACNA1S | c.2846T>C (p.Leu949Pro) c.*2009T>C (n.*2009T>C) c.*364T>C (n.*364T>C) c.2786T>C (p.Leu929Pro) | |
| 1 | g.201065845A>T | CA344101193 | CACNA1S | c.2846T>A (p.Leu949His) c.*2009T>A (n.*2009T>A) c.*364T>A (n.*364T>A) c.2786T>A (p.Leu929His) | gnomAD v4 |
| 1 | g.201065846G>A | CA344101196 | CACNA1S | c.2845C>T (p.Leu949Phe) c.*2008C>T (n.*2008C>T) c.*363C>T (n.*363C>T) c.2785C>T (p.Leu929Phe) | |
| 1 | g.201065846G>C | CA344101205 | CACNA1S | c.2845C>G (p.Leu949Val) c.*2008C>G (n.*2008C>G) c.*363C>G (n.*363C>G) c.2785C>G (p.Leu929Val) | |
| 1 | g.201065846G>T | CA344101207 | CACNA1S | c.2845C>A (p.Leu949Ile) c.*2008C>A (n.*2008C>A) c.*363C>A (n.*363C>A) c.2785C>A (p.Leu929Ile) | |
| 1 | g.201065847C>A | CA344101208 | CACNA1S | c.2844G>T (p.Gln948His) c.*2007G>T (n.*2007G>T) c.*362G>T (n.*362G>T) c.2784G>T (p.Gln928His) | |
| 1 | g.201065847C>G | CA344101214 | CACNA1S | c.2844G>C (p.Gln948His) c.*2007G>C (n.*2007G>C) c.*362G>C (n.*362G>C) c.2784G>C (p.Gln928His) | gnomAD v4 |
| 1 | g.201065847C>T | CA422686672 | CACNA1S | c.2844G>A (p.Gln948=) c.*2007G>A (n.*2007G>A) c.*362G>A (n.*362G>A) c.2784G>A (p.Gln928=) | gnomAD v4 |
| 1 | g.201065848T>A | CA344101223 | CACNA1S | c.2843A>T (p.Gln948Leu) c.*2006A>T (n.*2006A>T) c.*361A>T (n.*361A>T) c.2783A>T (p.Gln928Leu) | |
| 1 | g.201065848T>C | CA344101229 | CACNA1S | c.2843A>G (p.Gln948Arg) c.*2006A>G (n.*2006A>G) c.*361A>G (n.*361A>G) c.2783A>G (p.Gln928Arg) | gnomAD v4 |
| 1 | g.201065848T>G | CA344101226 | CACNA1S | c.2843A>C (p.Gln948Pro) c.*2006A>C (n.*2006A>C) c.*361A>C (n.*361A>C) c.2783A>C (p.Gln928Pro) | |
| 1 | g.201065849G>A | CA344101241 | CACNA1S | c.2842C>T (p.Gln948Ter) c.*2005C>T (n.*2005C>T) c.*360C>T (n.*360C>T) c.2782C>T (p.Gln928Ter) | |
| 1 | g.201065849G>C | CA344101242 | CACNA1S | c.2842C>G (p.Gln948Glu) c.*2005C>G (n.*2005C>G) c.*360C>G (n.*360C>G) c.2782C>G (p.Gln928Glu) | |
| 1 | g.201065849G>T | CA344101243 | CACNA1S | c.2842C>A (p.Gln948Lys) c.*2005C>A (n.*2005C>A) c.*360C>A (n.*360C>A) c.2782C>A (p.Gln928Lys) | |
| 1 | g.201065850G>A | CA422686674 | CACNA1S | c.2841C>T (p.Val947=) c.*2004C>T (n.*2004C>T) c.*359C>T (n.*359C>T) c.2781C>T (p.Val927=) | |
| 1 | g.201065850G>C | CA422686676 | CACNA1S | c.2841C>G (p.Val947=) c.*2004C>G (n.*2004C>G) c.*359C>G (n.*359C>G) c.2781C>G (p.Val927=) | |
| 1 | g.201065850G= | CA1219580812 | CACNA1S | c.2841C= (p.Val947=) c.*2004C= (n.*2004C=) c.*359C= (n.*359C=) c.2781C= (p.Val927=) | |
| 1 | g.201065850G>T | CA422686675 | CACNA1S | c.2841C>A (p.Val947=) c.*2004C>A (n.*2004C>A) c.*359C>A (n.*359C>A) c.2781C>A (p.Val927=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201065851A>C | CA344101244 | CACNA1S | c.2840T>G (p.Val947Gly) c.*2003T>G (n.*2003T>G) c.*358T>G (n.*358T>G) c.2780T>G (p.Val927Gly) | |
| 1 | g.201065851A>G | CA344101245 | CACNA1S | c.2840T>C (p.Val947Ala) c.*2003T>C (n.*2003T>C) c.*358T>C (n.*358T>C) c.2780T>C (p.Val927Ala) | |
| 1 | g.201065851A>T | CA344101246 | CACNA1S | c.2840T>A (p.Val947Asp) c.*2003T>A (n.*2003T>A) c.*358T>A (n.*358T>A) c.2780T>A (p.Val927Asp) | |
| 1 | g.201065852C>A | CA344101247 | CACNA1S | c.2839G>T (p.Val947Phe) c.*2002G>T (n.*2002G>T) c.*357G>T (n.*357G>T) c.2779G>T (p.Val927Phe) | ClinVar dbSNP |
| 1 | g.201065852C= | CA1140994511 | CACNA1S | c.2839G= (p.Val947=) c.*2002G= (n.*2002G=) c.*357G= (n.*357G=) c.2779G= (p.Val927=) | |
| 1 | g.201065852C>G | CA344101248 | CACNA1S | c.2839G>C (p.Val947Leu) c.*2002G>C (n.*2002G>C) c.*357G>C (n.*357G>C) c.2779G>C (p.Val927Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201065852C>T | CA079317 | CACNA1S | c.2839G>A (p.Val947Ile) c.*2002G>A (n.*2002G>A) c.*357G>A (n.*357G>A) c.2779G>A (p.Val927Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201065853G>A | CA422686681 | CACNA1S | c.2838C>T (p.Gly946=) c.*2001C>T (n.*2001C>T) c.*356C>T (n.*356C>T) c.2778C>T (p.Gly926=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201065853G>C | CA422686679 | CACNA1S | c.2838C>G (p.Gly946=) c.*2001C>G (n.*2001C>G) c.*356C>G (n.*356C>G) c.2778C>G (p.Gly926=) | |
| 1 | g.201065853G= | CA1219580813 | CACNA1S | c.2838C= (p.Gly946=) c.*2001C= (n.*2001C=) c.*356C= (n.*356C=) c.2778C= (p.Gly926=) | |
| 1 | g.201065853G>T | CA079314 | CACNA1S | c.2838C>A (p.Gly946=) c.*2001C>A (n.*2001C>A) c.*356C>A (n.*356C>A) c.2778C>A (p.Gly926=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.201065854C>A | CA344101252 | CACNA1S | c.2837G>T (p.Gly946Val) c.*2000G>T (n.*2000G>T) c.*355G>T (n.*355G>T) c.2777G>T (p.Gly926Val) | |
| 1 | g.201065854C= | CA1219580814 | CACNA1S | c.2837G= (p.Gly946=) c.*2000G= (n.*2000G=) c.*355G= (n.*355G=) c.2777G= (p.Gly926=) | |
| 1 | g.201065854C>G | CA344101253 | CACNA1S | c.2837G>C (p.Gly946Ala) c.*2000G>C (n.*2000G>C) c.*355G>C (n.*355G>C) c.2777G>C (p.Gly926Ala) | dbSNP |
| 1 | g.201065854C>T | CA344101254 | CACNA1S | c.2837G>A (p.Gly946Asp) c.*2000G>A (n.*2000G>A) c.*355G>A (n.*355G>A) c.2777G>A (p.Gly926Asp) | |
| 1 | g.201065855C>A | CA344101255 | CACNA1S | c.2836G>T (p.Gly946Cys) c.*1999G>T (n.*1999G>T) c.*354G>T (n.*354G>T) c.2776G>T (p.Gly926Cys) | |
| 1 | g.201065855C= | CA1147440734 | CACNA1S | c.2836G= (p.Gly946=) c.*1999G= (n.*1999G=) c.*354G= (n.*354G=) c.2776G= (p.Gly926=) | |
| 1 | g.201065855C>G | CA344101256 | CACNA1S | c.2836G>C (p.Gly946Arg) c.*1999G>C (n.*1999G>C) c.*354G>C (n.*354G>C) c.2776G>C (p.Gly926Arg) | ClinVar gnomAD v4 |
| 1 | g.201065855C>T | CA079311 | CACNA1S | c.2836G>A (p.Gly946Ser) c.*1999G>A (n.*1999G>A) c.*354G>A (n.*354G>A) c.2776G>A (p.Gly926Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201065856G>A | CA079309 | CACNA1S | c.2835C>T (p.Ile945=) c.*1998C>T (n.*1998C>T) c.*353C>T (n.*353C>T) c.2775C>T (p.Ile925=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201065856G>C | CA344101261 | CACNA1S | c.2835C>G (p.Ile945Met) c.*1998C>G (n.*1998C>G) c.*353C>G (n.*353C>G) c.2775C>G (p.Ile925Met) | |
| 1 | g.201065856G= | CA1219580815 | CACNA1S | c.2835C= (p.Ile945=) c.*1998C= (n.*1998C=) c.*353C= (n.*353C=) c.2775C= (p.Ile925=) | |
| 1 | g.201065856G>T | CA422686685 | CACNA1S | c.2835C>A (p.Ile945=) c.*1998C>A (n.*1998C>A) c.*353C>A (n.*353C>A) c.2775C>A (p.Ile925=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201065857A>C | CA344101262 | CACNA1S | c.2834T>G (p.Ile945Ser) c.*1997T>G (n.*1997T>G) c.*352T>G (n.*352T>G) c.2774T>G (p.Ile925Ser) | |
| 1 | g.201065857A>G | CA344101263 | CACNA1S | c.2834T>C (p.Ile945Thr) c.*1997T>C (n.*1997T>C) c.*352T>C (n.*352T>C) c.2774T>C (p.Ile925Thr) |