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.201053538C>A | CA344154737 | CACNA1S | c.3716G>T (p.Arg1239Leu) c.*2879G>T (n.*2879G>T) n.842G>T c.*1234G>T (n.*1234G>T) c.3656G>T (p.Arg1219Leu) c.3659G>T (p.Arg1220Leu) | |
| 1 | g.201053538C= | CA1140496126 | CACNA1S | c.3716G= (p.Arg1239=) c.*2879G= (n.*2879G=) n.842G= c.*1234G= (n.*1234G=) c.3656G= (p.Arg1219=) c.3659G= (p.Arg1220=) | |
| 1 | g.201053538C>G | CA344154739 | CACNA1S | c.3716G>C (p.Arg1239Pro) c.*2879G>C (n.*2879G>C) n.842G>C c.*1234G>C (n.*1234G>C) c.3656G>C (p.Arg1219Pro) c.3659G>C (p.Arg1220Pro) | gnomAD v4 |
| 1 | g.201053538C>T | CA004054 | CACNA1S | c.3716G>A (p.Arg1239His) c.*2879G>A (n.*2879G>A) n.842G>A c.*1234G>A (n.*1234G>A) c.3656G>A (p.Arg1219His) c.3659G>A (p.Arg1220His) | ClinVar dbSNP |
| 1 | g.201053538_201053539delinsCG | CA1219575445 | CACNA1S | c.3715_3716delinsCG (p.Arg1239=) c.*2878_*2879delinsCG (n.*2878_*2879delinsCG) n.841_842delinsCG c.*1233_*1234delinsCG (n.*1233_*1234delinsCG) c.3655_3656delinsCG (p.Arg1219=) c.3658_3659delinsCG (p.Arg1220=) | |
| 1 | g.201053539G>A | CA344154758 | CACNA1S | c.3715C>T (p.Arg1239Cys) c.*2878C>T (n.*2878C>T) n.841C>T c.*1233C>T (n.*1233C>T) c.3655C>T (p.Arg1219Cys) c.3658C>T (p.Arg1220Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201053539G>C | CA004048 | CACNA1S | c.3715C>G (p.Arg1239Gly) c.*2878C>G (n.*2878C>G) n.841C>G c.*1233C>G (n.*1233C>G) c.3655C>G (p.Arg1219Gly) c.3658C>G (p.Arg1220Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053539G= | CA1140496127 | CACNA1S | c.3715C= (p.Arg1239=) c.*2878C= (n.*2878C=) n.841C= c.*1233C= (n.*1233C=) c.3655C= (p.Arg1219=) c.3658C= (p.Arg1220=) | |
| 1 | g.201053539G>T | CA344154755 | CACNA1S | c.3715C>A (p.Arg1239Ser) c.*2878C>A (n.*2878C>A) n.841C>A c.*1233C>A (n.*1233C>A) c.3655C>A (p.Arg1219Ser) c.3658C>A (p.Arg1220Ser) | |
| 1 | g.201053540del | CA082775 | CACNA1S | c.3715del (p.Arg1239ValfsTer3) c.*2878del (n.*2878del) n.841del c.*1233del (n.*1233del) c.3655del (p.Arg1219ValfsTer3) c.3658del (p.Arg1220ValfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053540G>A | CA422719608 | CACNA1S | c.3714C>T (p.Phe1238=) c.*2877C>T (n.*2877C>T) n.840C>T c.*1232C>T (n.*1232C>T) c.3654C>T (p.Phe1218=) c.3657C>T (p.Phe1219=) | |
| 1 | g.201053540G>C | CA344154771 | CACNA1S | c.3714C>G (p.Phe1238Leu) c.*2877C>G (n.*2877C>G) n.840C>G c.*1232C>G (n.*1232C>G) c.3654C>G (p.Phe1218Leu) c.3657C>G (p.Phe1219Leu) | |
| 1 | g.201053540G>T | CA344154768 | CACNA1S | c.3714C>A (p.Phe1238Leu) c.*2877C>A (n.*2877C>A) n.840C>A c.*1232C>A (n.*1232C>A) c.3654C>A (p.Phe1218Leu) c.3657C>A (p.Phe1219Leu) | |
| 1 | g.201053541A>C | CA344154774 | CACNA1S | c.3713T>G (p.Phe1238Cys) c.*2876T>G (n.*2876T>G) n.839T>G c.*1231T>G (n.*1231T>G) c.3653T>G (p.Phe1218Cys) c.3656T>G (p.Phe1219Cys) | |
| 1 | g.201053541A>G | CA344154776 | CACNA1S | c.3713T>C (p.Phe1238Ser) c.*2876T>C (n.*2876T>C) n.839T>C c.*1231T>C (n.*1231T>C) c.3653T>C (p.Phe1218Ser) c.3656T>C (p.Phe1219Ser) | |
| 1 | g.201053541A>T | CA344154779 | CACNA1S | c.3713T>A (p.Phe1238Tyr) c.*2876T>A (n.*2876T>A) n.839T>A c.*1231T>A (n.*1231T>A) c.3653T>A (p.Phe1218Tyr) c.3656T>A (p.Phe1219Tyr) | |
| 1 | g.201053542A>C | CA344154780 | CACNA1S | c.3712T>G (p.Phe1238Val) c.*2875T>G (n.*2875T>G) n.838T>G c.*1230T>G (n.*1230T>G) c.3652T>G (p.Phe1218Val) c.3655T>G (p.Phe1219Val) | |
| 1 | g.201053542A>G | CA344154787 | CACNA1S | c.3712T>C (p.Phe1238Leu) c.*2875T>C (n.*2875T>C) n.838T>C c.*1230T>C (n.*1230T>C) c.3652T>C (p.Phe1218Leu) c.3655T>C (p.Phe1219Leu) | |
| 1 | g.201053542A>T | CA344154789 | CACNA1S | c.3712T>A (p.Phe1238Ile) c.*2875T>A (n.*2875T>A) n.838T>A c.*1230T>A (n.*1230T>A) c.3652T>A (p.Phe1218Ile) c.3655T>A (p.Phe1219Ile) | |
| 1 | g.201053543C>A | CA422719611 | CACNA1S | c.3711G>T (p.Leu1237=) c.*2874G>T (n.*2874G>T) n.837G>T c.*1229G>T (n.*1229G>T) c.3651G>T (p.Leu1217=) c.3654G>T (p.Leu1218=) | |
| 1 | g.201053543C= | CA1219575446 | CACNA1S | c.3711G= (p.Leu1237=) c.*2874G= (n.*2874G=) n.837G= c.*1229G= (n.*1229G=) c.3651G= (p.Leu1217=) c.3654G= (p.Leu1218=) | |
| 1 | g.201053543C>G | CA422719609 | CACNA1S | c.3711G>C (p.Leu1237=) c.*2874G>C (n.*2874G>C) n.837G>C c.*1229G>C (n.*1229G>C) c.3651G>C (p.Leu1217=) c.3654G>C (p.Leu1218=) | |
| 1 | g.201053543C>T | CA422719610 | CACNA1S | c.3711G>A (p.Leu1237=) c.*2874G>A (n.*2874G>A) n.837G>A c.*1229G>A (n.*1229G>A) c.3651G>A (p.Leu1217=) c.3654G>A (p.Leu1218=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201053544A>C | CA344154808 | CACNA1S | c.3710T>G (p.Leu1237Arg) c.*2873T>G (n.*2873T>G) n.836T>G c.*1228T>G (n.*1228T>G) c.3650T>G (p.Leu1217Arg) c.3653T>G (p.Leu1218Arg) | |
| 1 | g.201053544A>G | CA344154798 | CACNA1S | c.3710T>C (p.Leu1237Pro) c.*2873T>C (n.*2873T>C) n.836T>C c.*1228T>C (n.*1228T>C) c.3650T>C (p.Leu1217Pro) c.3653T>C (p.Leu1218Pro) | |
| 1 | g.201053544A>T | CA344154804 | CACNA1S | c.3710T>A (p.Leu1237Gln) c.*2873T>A (n.*2873T>A) n.836T>A c.*1228T>A (n.*1228T>A) c.3650T>A (p.Leu1217Gln) c.3653T>A (p.Leu1218Gln) | |
| 1 | g.201053545G>A | CA422719612 | CACNA1S | c.3709C>T (p.Leu1237=) c.*2872C>T (n.*2872C>T) n.835C>T c.*1227C>T (n.*1227C>T) c.3649C>T (p.Leu1217=) c.3652C>T (p.Leu1218=) | |
| 1 | g.201053545G>C | CA344154810 | CACNA1S | c.3709C>G (p.Leu1237Val) c.*2872C>G (n.*2872C>G) n.835C>G c.*1227C>G (n.*1227C>G) c.3649C>G (p.Leu1217Val) c.3652C>G (p.Leu1218Val) | |
| 1 | g.201053545G>T | CA344154813 | CACNA1S | c.3709C>A (p.Leu1237Met) c.*2872C>A (n.*2872C>A) n.835C>A c.*1227C>A (n.*1227C>A) c.3649C>A (p.Leu1217Met) c.3652C>A (p.Leu1218Met) | |
| 1 | g.201053546G>A | CA422719613 | CACNA1S | c.3708C>T (p.Arg1236=) c.*2871C>T (n.*2871C>T) n.834C>T c.*1226C>T (n.*1226C>T) c.3648C>T (p.Arg1216=) c.3651C>T (p.Arg1217=) | dbSNP |
| 1 | g.201053546G>C | CA422719615 | CACNA1S | c.3708C>G (p.Arg1236=) c.*2871C>G (n.*2871C>G) n.834C>G c.*1226C>G (n.*1226C>G) c.3648C>G (p.Arg1216=) c.3651C>G (p.Arg1217=) | |
| 1 | g.201053546G= | CA1219575447 | CACNA1S | c.3708C= (p.Arg1236=) c.*2871C= (n.*2871C=) n.834C= c.*1226C= (n.*1226C=) c.3648C= (p.Arg1216=) c.3651C= (p.Arg1217=) | |
| 1 | g.201053546G>T | CA422719614 | CACNA1S | c.3708C>A (p.Arg1236=) c.*2871C>A (n.*2871C>A) n.834C>A c.*1226C>A (n.*1226C>A) c.3648C>A (p.Arg1216=) c.3651C>A (p.Arg1217=) | |
| 1 | g.201053547C>A | CA344154819 | CACNA1S | c.3707G>T (p.Arg1236Leu) c.*2870G>T (n.*2870G>T) n.833G>T c.*1225G>T (n.*1225G>T) c.3647G>T (p.Arg1216Leu) c.3650G>T (p.Arg1217Leu) | |
| 1 | g.201053547C= | CA1145266439 | CACNA1S | c.3707G= (p.Arg1236=) c.*2870G= (n.*2870G=) n.833G= c.*1225G= (n.*1225G=) c.3647G= (p.Arg1216=) c.3650G= (p.Arg1217=) | |
| 1 | g.201053547C>G | CA344154823 | CACNA1S | c.3707G>C (p.Arg1236Pro) c.*2870G>C (n.*2870G>C) n.833G>C c.*1225G>C (n.*1225G>C) c.3647G>C (p.Arg1216Pro) c.3650G>C (p.Arg1217Pro) | |
| 1 | g.201053547C>T | CA36002771 | CACNA1S | c.3707G>A (p.Arg1236His) c.*2870G>A (n.*2870G>A) n.833G>A c.*1225G>A (n.*1225G>A) c.3647G>A (p.Arg1216His) c.3650G>A (p.Arg1217His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053548G>A | CA344154840 | CACNA1S | c.3706C>T (p.Arg1236Cys) c.*2869C>T (n.*2869C>T) n.832C>T c.*1224C>T (n.*1224C>T) c.3646C>T (p.Arg1216Cys) c.3649C>T (p.Arg1217Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053548G>C | CA344154829 | CACNA1S | c.3706C>G (p.Arg1236Gly) c.*2869C>G (n.*2869C>G) n.832C>G c.*1224C>G (n.*1224C>G) c.3646C>G (p.Arg1216Gly) c.3649C>G (p.Arg1217Gly) | |
| 1 | g.201053548G= | CA1219575448 | CACNA1S | c.3706C= (p.Arg1236=) c.*2869C= (n.*2869C=) n.832C= c.*1224C= (n.*1224C=) c.3646C= (p.Arg1216=) c.3649C= (p.Arg1217=) | |
| 1 | g.201053548G>T | CA344154833 | CACNA1S | c.3706C>A (p.Arg1236Ser) c.*2869C>A (n.*2869C>A) n.832C>A c.*1224C>A (n.*1224C>A) c.3646C>A (p.Arg1216Ser) c.3649C>A (p.Arg1217Ser) | |
| 1 | g.201053549G>A | CA422719617 | CACNA1S | c.3705C>T (p.Phe1235=) c.*2868C>T (n.*2868C>T) n.831C>T c.*1223C>T (n.*1223C>T) c.3645C>T (p.Phe1215=) c.3648C>T (p.Phe1216=) | |
| 1 | g.201053549G>C | CA344154843 | CACNA1S | c.3705C>G (p.Phe1235Leu) c.*2868C>G (n.*2868C>G) n.831C>G c.*1223C>G (n.*1223C>G) c.3645C>G (p.Phe1215Leu) c.3648C>G (p.Phe1216Leu) | |
| 1 | g.201053549G>T | CA344154848 | CACNA1S | c.3705C>A (p.Phe1235Leu) c.*2868C>A (n.*2868C>A) n.831C>A c.*1223C>A (n.*1223C>A) c.3645C>A (p.Phe1215Leu) c.3648C>A (p.Phe1216Leu) | |
| 1 | g.201053550A= | CA1219575449 | CACNA1S | c.3704T= (p.Phe1235=) c.*2867T= (n.*2867T=) n.830T= c.*1222T= (n.*1222T=) c.3644T= (p.Phe1215=) c.3647T= (p.Phe1216=) | |
| 1 | g.201053550A>C | CA344154851 | CACNA1S | c.3704T>G (p.Phe1235Cys) c.*2867T>G (n.*2867T>G) n.830T>G c.*1222T>G (n.*1222T>G) c.3644T>G (p.Phe1215Cys) c.3647T>G (p.Phe1216Cys) | dbSNP |
| 1 | g.201053550A>G | CA344154852 | CACNA1S | c.3704T>C (p.Phe1235Ser) c.*2867T>C (n.*2867T>C) n.830T>C c.*1222T>C (n.*1222T>C) c.3644T>C (p.Phe1215Ser) c.3647T>C (p.Phe1216Ser) | |
| 1 | g.201053550A>T | CA344154856 | CACNA1S | c.3704T>A (p.Phe1235Tyr) c.*2867T>A (n.*2867T>A) n.830T>A c.*1222T>A (n.*1222T>A) c.3644T>A (p.Phe1215Tyr) c.3647T>A (p.Phe1216Tyr) | |
| 1 | g.201053551A>C | CA344154859 | CACNA1S | c.3703T>G (p.Phe1235Val) c.*2866T>G (n.*2866T>G) n.829T>G c.*1221T>G (n.*1221T>G) c.3643T>G (p.Phe1215Val) c.3646T>G (p.Phe1216Val) | |
| 1 | g.201053551A>G | CA344154862 | CACNA1S | c.3703T>C (p.Phe1235Leu) c.*2866T>C (n.*2866T>C) n.829T>C c.*1221T>C (n.*1221T>C) c.3643T>C (p.Phe1215Leu) c.3646T>C (p.Phe1216Leu) |