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 |
|---|---|---|---|---|---|
| 12 | g.49185176A= | CA2035022024 | TUBA1A | c.1190T= (p.Leu397=) c.1085T= (p.Leu362=) n.2223T= c.*646T= (n.*646T=) | |
| 12 | g.49185176A>C | CA384634845 | TUBA1A | c.1190T>G (p.Leu397Arg) c.1085T>G (p.Leu362Arg) n.2223T>G c.*646T>G (n.*646T>G) | |
| 12 | g.49185176A>G | CA213162 | TUBA1A | c.1190T>C (p.Leu397Pro) c.1085T>C (p.Leu362Pro) n.2223T>C c.*646T>C (n.*646T>C) | ClinVar dbSNP |
| 12 | g.49185176A>T | CA384634853 | TUBA1A | c.1190T>A (p.Leu397Gln) c.1085T>A (p.Leu362Gln) n.2223T>A c.*646T>A (n.*646T>A) | |
| 12 | g.49185177G>A | CA479717148 | TUBA1A | c.1189C>T (p.Leu397=) c.1084C>T (p.Leu362=) n.2222C>T c.*645C>T (n.*645C>T) | |
| 12 | g.49185177G>C | CA384634871 | TUBA1A | c.1189C>G (p.Leu397Val) c.1084C>G (p.Leu362Val) n.2222C>G c.*645C>G (n.*645C>G) | |
| 12 | g.49185177G>T | CA384634872 | TUBA1A | c.1189C>A (p.Leu397Met) c.1084C>A (p.Leu362Met) n.2222C>A c.*645C>A (n.*645C>A) | |
| 12 | g.49185178G>A | CA479717151 | TUBA1A | c.1188C>T (p.Asp396=) c.1083C>T (p.Asp361=) n.2221C>T c.*644C>T (n.*644C>T) | gnomAD v4 |
| 12 | g.49185178G>C | CA384634874 | TUBA1A | c.1188C>G (p.Asp396Glu) c.1083C>G (p.Asp361Glu) n.2221C>G c.*644C>G (n.*644C>G) | |
| 12 | g.49185178G>T | CA384634877 | TUBA1A | c.1188C>A (p.Asp396Glu) c.1083C>A (p.Asp361Glu) n.2221C>A c.*644C>A (n.*644C>A) | |
| 12 | g.49185179T>A | CA384634886 | TUBA1A | c.1187A>T (p.Asp396Val) c.1082A>T (p.Asp361Val) n.2220A>T c.*643A>T (n.*643A>T) | |
| 12 | g.49185179T>C | CA384634883 | TUBA1A | c.1187A>G (p.Asp396Gly) c.1082A>G (p.Asp361Gly) n.2220A>G c.*643A>G (n.*643A>G) | |
| 12 | g.49185179T>G | CA384634880 | TUBA1A | c.1187A>C (p.Asp396Ala) c.1082A>C (p.Asp361Ala) n.2220A>C c.*643A>C (n.*643A>C) | |
| 12 | g.49185180C>A | CA384634890 | TUBA1A | c.1186G>T (p.Asp396Tyr) c.1081G>T (p.Asp361Tyr) n.2219G>T c.*642G>T (n.*642G>T) | ClinVar dbSNP |
| 12 | g.49185180C= | CA2035022031 | TUBA1A | c.1186G= (p.Asp396=) c.1081G= (p.Asp361=) n.2219G= c.*642G= (n.*642G=) | |
| 12 | g.49185180C>G | CA384634894 | TUBA1A | c.1186G>C (p.Asp396His) c.1081G>C (p.Asp361His) n.2219G>C c.*642G>C (n.*642G>C) | |
| 12 | g.49185180C>T | CA384634897 | TUBA1A | c.1186G>A (p.Asp396Asn) c.1081G>A (p.Asp361Asn) n.2219G>A c.*642G>A (n.*642G>A) | |
| 12 | g.49185181A>C | CA384634902 | TUBA1A | c.1185T>G (p.Phe395Leu) c.1080T>G (p.Phe360Leu) n.2218T>G c.*641T>G (n.*641T>G) | |
| 12 | g.49185181A>G | CA479717158 | TUBA1A | c.1185T>C (p.Phe395=) c.1080T>C (p.Phe360=) n.2218T>C c.*641T>C (n.*641T>C) | |
| 12 | g.49185181A>T | CA384634905 | TUBA1A | c.1185T>A (p.Phe395Leu) c.1080T>A (p.Phe360Leu) n.2218T>A c.*641T>A (n.*641T>A) | |
| 12 | g.49185182A>C | CA384634910 | TUBA1A | c.1184T>G (p.Phe395Cys) c.1079T>G (p.Phe360Cys) n.2217T>G c.*640T>G (n.*640T>G) | |
| 12 | g.49185182A>G | CA384634913 | TUBA1A | c.1184T>C (p.Phe395Ser) c.1079T>C (p.Phe360Ser) n.2217T>C c.*640T>C (n.*640T>C) | |
| 12 | g.49185182A>T | CA384634916 | TUBA1A | c.1184T>A (p.Phe395Tyr) c.1079T>A (p.Phe360Tyr) n.2217T>A c.*640T>A (n.*640T>A) | |
| 12 | g.49185183A>C | CA384634920 | TUBA1A | c.1183T>G (p.Phe395Val) c.1078T>G (p.Phe360Val) n.2216T>G c.*639T>G (n.*639T>G) | |
| 12 | g.49185183A>G | CA384634924 | TUBA1A | c.1183T>C (p.Phe395Leu) c.1078T>C (p.Phe360Leu) n.2216T>C c.*639T>C (n.*639T>C) | |
| 12 | g.49185183A>T | CA384634928 | TUBA1A | c.1183T>A (p.Phe395Ile) c.1078T>A (p.Phe360Ile) n.2216T>A c.*639T>A (n.*639T>A) | |
| 12 | g.49185184C>A | CA384634945 | TUBA1A | c.1182G>T (p.Lys394Asn) c.1077G>T (p.Lys359Asn) n.2215G>T c.*638G>T (n.*638G>T) | |
| 12 | g.49185184C= | CA2035022040 | TUBA1A | c.1182G= (p.Lys394=) c.1077G= (p.Lys359=) n.2215G= c.*638G= (n.*638G=) | |
| 12 | g.49185184C>G | CA384634955 | TUBA1A | c.1182G>C (p.Lys394Asn) c.1077G>C (p.Lys359Asn) n.2215G>C c.*638G>C (n.*638G>C) | ClinVar dbSNP |
| 12 | g.49185184C>T | CA479717163 | TUBA1A | c.1182G>A (p.Lys394=) c.1077G>A (p.Lys359=) n.2215G>A c.*638G>A (n.*638G>A) | gnomAD v4 |
| 12 | g.49185185T>A | CA384634995 | TUBA1A | c.1181A>T (p.Lys394Met) c.1076A>T (p.Lys359Met) n.2214A>T c.*637A>T (n.*637A>T) | |
| 12 | g.49185185T>C | CA384634991 | TUBA1A | c.1181A>G (p.Lys394Arg) c.1076A>G (p.Lys359Arg) n.2214A>G c.*637A>G (n.*637A>G) | ClinVar dbSNP |
| 12 | g.49185185T>G | CA384634959 | TUBA1A | c.1181A>C (p.Lys394Thr) c.1076A>C (p.Lys359Thr) n.2214A>C c.*637A>C (n.*637A>C) | |
| 12 | g.49185186T>A | CA384634999 | TUBA1A | c.1180A>T (p.Lys394Ter) c.1075A>T (p.Lys359Ter) n.2213A>T c.*636A>T (n.*636A>T) | dbSNP |
| 12 | g.49185186T>C | CA384635006 | TUBA1A | c.1180A>G (p.Lys394Glu) c.1075A>G (p.Lys359Glu) n.2213A>G c.*636A>G (n.*636A>G) | |
| 12 | g.49185186T>G | CA384635009 | TUBA1A | c.1180A>C (p.Lys394Gln) c.1075A>C (p.Lys359Gln) n.2213A>C c.*636A>C (n.*636A>C) | |
| 12 | g.49185186T= | CA2035022043 | TUBA1A | c.1180A= (p.Lys394=) c.1075A= (p.Lys359=) n.2213A= c.*636A= (n.*636A=) | |
| 12 | g.49185188_49185189del | CA2618625229 | TUBA1A | c.1179_1180del (p.His393GlnfsTer3) c.1074_1075del (p.His358GlnfsTer3) n.2212_2213del c.*635_*636del (n.*635_*636del) | gnomAD v4 |
| 12 | g.49185187G>A | CA479717170 | TUBA1A | c.1179C>T (p.His393=) c.1074C>T (p.His358=) n.2212C>T c.*635C>T (n.*635C>T) | |
| 12 | g.49185187G>C | CA384635014 | TUBA1A | c.1179C>G (p.His393Gln) c.1074C>G (p.His358Gln) n.2212C>G c.*635C>G (n.*635C>G) | |
| 12 | g.49185187G>T | CA384635015 | TUBA1A | c.1179C>A (p.His393Gln) c.1074C>A (p.His358Gln) n.2212C>A c.*635C>A (n.*635C>A) | |
| 12 | g.49185188T>A | CA384635016 | TUBA1A | c.1178A>T (p.His393Leu) c.1073A>T (p.His358Leu) n.2211A>T c.*634A>T (n.*634A>T) | |
| 12 | g.49185188T>C | CA384635017 | TUBA1A | c.1178A>G (p.His393Arg) c.1073A>G (p.His358Arg) n.2211A>G c.*634A>G (n.*634A>G) | |
| 12 | g.49185188T>G | CA384635018 | TUBA1A | c.1178A>C (p.His393Pro) c.1073A>C (p.His358Pro) n.2211A>C c.*634A>C (n.*634A>C) | |
| 12 | g.49185189G>A | CA384635021 | TUBA1A | c.1177C>T (p.His393Tyr) c.1072C>T (p.His358Tyr) n.2210C>T c.*633C>T (n.*633C>T) | ClinVar dbSNP |
| 12 | g.49185189G>C | CA384635025 | TUBA1A | c.1177C>G (p.His393Asp) c.1072C>G (p.His358Asp) n.2210C>G c.*633C>G (n.*633C>G) | |
| 12 | g.49185189G= | CA2035022045 | TUBA1A | c.1177C= (p.His393=) c.1072C= (p.His358=) n.2210C= c.*633C= (n.*633C=) | |
| 12 | g.49185189G>T | CA384635023 | TUBA1A | c.1177C>A (p.His393Asn) c.1072C>A (p.His358Asn) n.2210C>A c.*633C>A (n.*633C>A) | |
| 12 | g.49185190G>A | CA479717179 | TUBA1A | c.1176C>T (p.Asp392=) c.1071C>T (p.Asp357=) n.2209C>T c.*632C>T (n.*632C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185190G>C | CA384635040 | TUBA1A | c.1176C>G (p.Asp392Glu) c.1071C>G (p.Asp357Glu) n.2209C>G c.*632C>G (n.*632C>G) |