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 |
|---|---|---|---|---|---|
| 8 | g.22116400A= | CA1770254519 | HR | c.3407T= (p.Val1136=) c.3242T= (p.Val1081=) n.1600T= c.3410T= (p.Val1137=) c.3245T= (p.Val1082=) | |
| 8 | g.22116400A>C | CA370514097 | HR | c.3407T>G (p.Val1136Gly) c.3242T>G (p.Val1081Gly) n.1600T>G c.3410T>G (p.Val1137Gly) c.3245T>G (p.Val1082Gly) | |
| 8 | g.22116400A>G | CA370514100 | HR | c.3407T>C (p.Val1136Ala) c.3242T>C (p.Val1081Ala) n.1600T>C c.3410T>C (p.Val1137Ala) c.3245T>C (p.Val1082Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22116400A>T | CA210693 | HR | c.3407T>A (p.Val1136Asp) c.3242T>A (p.Val1081Asp) n.1600T>A c.3410T>A (p.Val1137Asp) c.3245T>A (p.Val1082Asp) | ClinVar dbSNP |
| 8 | g.22116401C>A | CA370514102 | HR | c.3406G>T (p.Val1136Phe) c.3241G>T (p.Val1081Phe) n.1599G>T c.3409G>T (p.Val1137Phe) c.3244G>T (p.Val1082Phe) | |
| 8 | g.22116401C= | CA1770254536 | HR | c.3406G= (p.Val1136=) c.3241G= (p.Val1081=) n.1599G= c.3409G= (p.Val1137=) c.3244G= (p.Val1082=) | |
| 8 | g.22116401C>G | CA370514104 | HR | c.3406G>C (p.Val1136Leu) c.3241G>C (p.Val1081Leu) n.1599G>C c.3409G>C (p.Val1137Leu) c.3244G>C (p.Val1082Leu) | |
| 8 | g.22116401C>T | CA4661777 | HR | c.3406G>A (p.Val1136Ile) c.3241G>A (p.Val1081Ile) n.1599G>A c.3409G>A (p.Val1137Ile) c.3244G>A (p.Val1082Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.22116402G>A | CA459904809 | HR | c.3405C>T (p.Ser1135=) c.3240C>T (p.Ser1080=) n.1598C>T c.3408C>T (p.Ser1136=) c.3243C>T (p.Ser1081=) | gnomAD v4 COSMIC |
| 8 | g.22116402G>C | CA370514105 | HR | c.3405C>G (p.Ser1135Arg) c.3240C>G (p.Ser1080Arg) n.1598C>G c.3408C>G (p.Ser1136Arg) c.3243C>G (p.Ser1081Arg) | |
| 8 | g.22116402G>T | CA370514107 | HR | c.3405C>A (p.Ser1135Arg) c.3240C>A (p.Ser1080Arg) n.1598C>A c.3408C>A (p.Ser1136Arg) c.3243C>A (p.Ser1081Arg) | |
| 8 | g.22116403C>A | CA370514109 | HR | c.3404G>T (p.Ser1135Ile) c.3239G>T (p.Ser1080Ile) n.1597G>T c.3407G>T (p.Ser1136Ile) c.3242G>T (p.Ser1081Ile) | |
| 8 | g.22116403C>G | CA370514111 | HR | c.3404G>C (p.Ser1135Thr) c.3239G>C (p.Ser1080Thr) n.1597G>C c.3407G>C (p.Ser1136Thr) c.3242G>C (p.Ser1081Thr) | |
| 8 | g.22116403C>T | CA370514114 | HR | c.3404G>A (p.Ser1135Asn) c.3239G>A (p.Ser1080Asn) n.1597G>A c.3407G>A (p.Ser1136Asn) c.3242G>A (p.Ser1081Asn) | |
| 8 | g.22116406_22116409del | CA2686428749 | HR | c.3401_3404del (p.Val1134AlafsTer?) c.3236_3239del (p.Val1079AlafsTer?) n.1594_1597del c.3404_3407del (p.Val1135AlafsTer?) c.3239_3242del (p.Val1080AlafsTer?) | gnomAD v4 |
| 8 | g.22116404T>A | CA370514121 | HR | c.3403A>T (p.Ser1135Cys) c.3238A>T (p.Ser1080Cys) n.1596A>T c.3406A>T (p.Ser1136Cys) c.3241A>T (p.Ser1081Cys) | |
| 8 | g.22116404T>C | CA370514118 | HR | c.3403A>G (p.Ser1135Gly) c.3238A>G (p.Ser1080Gly) n.1596A>G c.3406A>G (p.Ser1136Gly) c.3241A>G (p.Ser1081Gly) | dbSNP |
| 8 | g.22116404T>G | CA370514119 | HR | c.3403A>C (p.Ser1135Arg) c.3238A>C (p.Ser1080Arg) n.1596A>C c.3406A>C (p.Ser1136Arg) c.3241A>C (p.Ser1081Arg) | gnomAD v4 |
| 8 | g.22116405G>A | CA4661778 | HR | c.3402C>T (p.Val1134=) c.3237C>T (p.Val1079=) n.1595C>T c.3405C>T (p.Val1135=) c.3240C>T (p.Val1080=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22116405G>C | CA459904810 | HR | c.3402C>G (p.Val1134=) c.3237C>G (p.Val1079=) n.1595C>G c.3405C>G (p.Val1135=) c.3240C>G (p.Val1080=) | |
| 8 | g.22116405G= | CA1770254565 | HR | c.3402C= (p.Val1134=) c.3237C= (p.Val1079=) n.1595C= c.3405C= (p.Val1135=) c.3240C= (p.Val1080=) | |
| 8 | g.22116405G>T | CA459904811 | HR | c.3402C>A (p.Val1134=) c.3237C>A (p.Val1079=) n.1595C>A c.3405C>A (p.Val1135=) c.3240C>A (p.Val1080=) | gnomAD v4 |
| 8 | g.22116406A>C | CA370514123 | HR | c.3401T>G (p.Val1134Gly) c.3236T>G (p.Val1079Gly) n.1594T>G c.3404T>G (p.Val1135Gly) c.3239T>G (p.Val1080Gly) | |
| 8 | g.22116406A>G | CA370514124 | HR | c.3401T>C (p.Val1134Ala) c.3236T>C (p.Val1079Ala) n.1594T>C c.3404T>C (p.Val1135Ala) c.3239T>C (p.Val1080Ala) | |
| 8 | g.22116406A>T | CA370514125 | HR | c.3401T>A (p.Val1134Asp) c.3236T>A (p.Val1079Asp) n.1594T>A c.3404T>A (p.Val1135Asp) c.3239T>A (p.Val1080Asp) | |
| 8 | g.22116407C>A | CA370514128 | HR | c.3400G>T (p.Val1134Phe) c.3235G>T (p.Val1079Phe) n.1593G>T c.3403G>T (p.Val1135Phe) c.3238G>T (p.Val1080Phe) | |
| 8 | g.22116407C= | CA1770254570 | HR | c.3400G= (p.Val1134=) c.3235G= (p.Val1079=) n.1593G= c.3403G= (p.Val1135=) c.3238G= (p.Val1080=) | |
| 8 | g.22116407C>G | CA370514130 | HR | c.3400G>C (p.Val1134Leu) c.3235G>C (p.Val1079Leu) n.1593G>C c.3403G>C (p.Val1135Leu) c.3238G>C (p.Val1080Leu) | |
| 8 | g.22116407C>T | CA370514133 | HR | c.3400G>A (p.Val1134Ile) c.3235G>A (p.Val1079Ile) n.1593G>A c.3403G>A (p.Val1135Ile) c.3238G>A (p.Val1080Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22116407_22116409delinsCTG | CA1770254571 | HR | c.3398_3400delinsCAG (p.Thr1133=) c.3233_3235delinsCAG (p.Thr1078=) n.1591_1593delinsCAG c.3401_3403delinsCAG (p.Thr1134=) c.3236_3238delinsCAG (p.Thr1079=) | |
| 8 | g.22116408T>A | CA459904818 | HR | c.3399A>T (p.Thr1133=) c.3234A>T (p.Thr1078=) n.1592A>T c.3402A>T (p.Thr1134=) c.3237A>T (p.Thr1079=) | |
| 8 | g.22116408T>C | CA459904820 | HR | c.3399A>G (p.Thr1133=) c.3234A>G (p.Thr1078=) n.1592A>G c.3402A>G (p.Thr1134=) c.3237A>G (p.Thr1079=) | |
| 8 | g.22116408T>G | CA459904821 | HR | c.3399A>C (p.Thr1133=) c.3234A>C (p.Thr1078=) n.1592A>C c.3402A>C (p.Thr1134=) c.3237A>C (p.Thr1079=) | |
| 8 | g.22116408_22116410del | CA2686428769 | HR | c.3397_3399del (p.Thr1133del) c.3232_3234del (p.Thr1078del) n.1590_1592del c.3400_3402del (p.Thr1134del) c.3235_3237del (p.Thr1079del) | gnomAD v4 |
| 8 | g.22116410_22116411del | CA580534509 | HR | c.3398_3399del (p.Thr1133SerfsTer11) c.3233_3234del (p.Thr1078SerfsTer11) n.1591_1592del c.3401_3402del (p.Thr1134SerfsTer11) c.3236_3237del (p.Thr1079SerfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22116409G>A | CA370514135 | HR | c.3398C>T (p.Thr1133Ile) c.3233C>T (p.Thr1078Ile) n.1591C>T c.3401C>T (p.Thr1134Ile) c.3236C>T (p.Thr1079Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.22116409G>C | CA370514137 | HR | c.3398C>G (p.Thr1133Arg) c.3233C>G (p.Thr1078Arg) n.1591C>G c.3401C>G (p.Thr1134Arg) c.3236C>G (p.Thr1079Arg) | gnomAD v4 |
| 8 | g.22116409G= | CA1770254578 | HR | c.3398C= (p.Thr1133=) c.3233C= (p.Thr1078=) n.1591C= c.3401C= (p.Thr1134=) c.3236C= (p.Thr1079=) | |
| 8 | g.22116409G>T | CA370514139 | HR | c.3398C>A (p.Thr1133Lys) c.3233C>A (p.Thr1078Lys) n.1591C>A c.3401C>A (p.Thr1134Lys) c.3236C>A (p.Thr1079Lys) | |
| 8 | g.22116410T>A | CA370514144 | HR | c.3397A>T (p.Thr1133Ser) c.3232A>T (p.Thr1078Ser) n.1590A>T c.3400A>T (p.Thr1134Ser) c.3235A>T (p.Thr1079Ser) | |
| 8 | g.22116410T>C | CA370514145 | HR | c.3397A>G (p.Thr1133Ala) c.3232A>G (p.Thr1078Ala) n.1590A>G c.3400A>G (p.Thr1134Ala) c.3235A>G (p.Thr1079Ala) | |
| 8 | g.22116410T>G | CA370514141 | HR | c.3397A>C (p.Thr1133Pro) c.3232A>C (p.Thr1078Pro) n.1590A>C c.3400A>C (p.Thr1134Pro) c.3235A>C (p.Thr1079Pro) | |
| 8 | g.22116411G>A | CA459904822 | HR | c.3396C>T (p.Ser1132=) c.3231C>T (p.Ser1077=) n.1589C>T c.3399C>T (p.Ser1133=) c.3234C>T (p.Ser1078=) | dbSNP |
| 8 | g.22116411G>C | CA370514147 | HR | c.3396C>G (p.Ser1132Arg) c.3231C>G (p.Ser1077Arg) n.1589C>G c.3399C>G (p.Ser1133Arg) c.3234C>G (p.Ser1078Arg) | |
| 8 | g.22116411G= | CA1770254583 | HR | c.3396C= (p.Ser1132=) c.3231C= (p.Ser1077=) n.1589C= c.3399C= (p.Ser1133=) c.3234C= (p.Ser1078=) | |
| 8 | g.22116411G>T | CA370514150 | HR | c.3396C>A (p.Ser1132Arg) c.3231C>A (p.Ser1077Arg) n.1589C>A c.3399C>A (p.Ser1133Arg) c.3234C>A (p.Ser1078Arg) | |
| 8 | g.22116412C>A | CA370514153 | HR | c.3395G>T (p.Ser1132Ile) c.3230G>T (p.Ser1077Ile) n.1588G>T c.3398G>T (p.Ser1133Ile) c.3233G>T (p.Ser1078Ile) | |
| 8 | g.22116412C= | CA1770254586 | HR | c.3395G= (p.Ser1132=) c.3230G= (p.Ser1077=) n.1588G= c.3398G= (p.Ser1133=) c.3233G= (p.Ser1078=) | |
| 8 | g.22116412C>G | CA370514156 | HR | c.3395G>C (p.Ser1132Thr) c.3230G>C (p.Ser1077Thr) n.1588G>C c.3398G>C (p.Ser1133Thr) c.3233G>C (p.Ser1078Thr) | |
| 8 | g.22116412C>T | CA173489720 | HR | c.3395G>A (p.Ser1132Asn) c.3230G>A (p.Ser1077Asn) n.1588G>A c.3398G>A (p.Ser1133Asn) c.3233G>A (p.Ser1078Asn) | dbSNP |