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 |
|---|---|---|---|---|---|
| 5 | g.37000862C>A | CA359518301 | NIPBL | c.3548C>A (p.Ala1183Glu) c.1-63716C>A (n.1-63716C>A) c.2804C>A (p.Ala935Glu) c.3350C>A (p.Ala1117Glu) c.3167C>A (p.Ala1056Glu) c.2888C>A (p.Ala963Glu) c.1931C>A (p.Ala644Glu) c.1922C>A (p.Ala641Glu) | |
| 5 | g.37000862C= | CA1539601359 | NIPBL | c.3548C= (p.Ala1183=) c.1-63716C= (n.1-63716C=) c.2804C= (p.Ala935=) c.3350C= (p.Ala1117=) c.3167C= (p.Ala1056=) c.2888C= (p.Ala963=) c.1931C= (p.Ala644=) c.1922C= (p.Ala641=) | |
| 5 | g.37000862C>G | CA117056434 | NIPBL | c.3548C>G (p.Ala1183Gly) c.1-63716C>G (n.1-63716C>G) c.2804C>G (p.Ala935Gly) c.3350C>G (p.Ala1117Gly) c.3167C>G (p.Ala1056Gly) c.2888C>G (p.Ala963Gly) c.1931C>G (p.Ala644Gly) c.1922C>G (p.Ala641Gly) | dbSNP gnomAD v4 |
| 5 | g.37000862C>T | CA359518305 | NIPBL | c.3548C>T (p.Ala1183Val) c.1-63716C>T (n.1-63716C>T) c.2804C>T (p.Ala935Val) c.3350C>T (p.Ala1117Val) c.3167C>T (p.Ala1056Val) c.2888C>T (p.Ala963Val) c.1931C>T (p.Ala644Val) c.1922C>T (p.Ala641Val) | ClinVar dbSNP |
| 5 | g.37000863A>C | CA443904521 | NIPBL | c.3549A>C (p.Ala1183=) c.1-63715A>C (n.1-63715A>C) c.2805A>C (p.Ala935=) c.3351A>C (p.Ala1117=) c.3168A>C (p.Ala1056=) c.2889A>C (p.Ala963=) c.1932A>C (p.Ala644=) c.1923A>C (p.Ala641=) | |
| 5 | g.37000863A>G | CA443904522 | NIPBL | c.3549A>G (p.Ala1183=) c.1-63715A>G (n.1-63715A>G) c.2805A>G (p.Ala935=) c.3351A>G (p.Ala1117=) c.3168A>G (p.Ala1056=) c.2889A>G (p.Ala963=) c.1932A>G (p.Ala644=) c.1923A>G (p.Ala641=) | gnomAD v4 |
| 5 | g.37000863A>T | CA443904524 | NIPBL | c.3549A>T (p.Ala1183=) c.1-63715A>T (n.1-63715A>T) c.2805A>T (p.Ala935=) c.3351A>T (p.Ala1117=) c.3168A>T (p.Ala1056=) c.2889A>T (p.Ala963=) c.1932A>T (p.Ala644=) c.1923A>T (p.Ala641=) | |
| 5 | g.37000864T>A | CA359518313 | NIPBL | c.3550T>A (p.Tyr1184Asn) c.1-63714T>A (n.1-63714T>A) c.2806T>A (p.Tyr936Asn) c.3352T>A (p.Tyr1118Asn) c.3169T>A (p.Tyr1057Asn) c.2890T>A (p.Tyr964Asn) c.1933T>A (p.Tyr645Asn) c.1924T>A (p.Tyr642Asn) | |
| 5 | g.37000864T>C | CA359518309 | NIPBL | c.3550T>C (p.Tyr1184His) c.1-63714T>C (n.1-63714T>C) c.2806T>C (p.Tyr936His) c.3352T>C (p.Tyr1118His) c.3169T>C (p.Tyr1057His) c.2890T>C (p.Tyr964His) c.1933T>C (p.Tyr645His) c.1924T>C (p.Tyr642His) | |
| 5 | g.37000864T>G | CA359518310 | NIPBL | c.3550T>G (p.Tyr1184Asp) c.1-63714T>G (n.1-63714T>G) c.2806T>G (p.Tyr936Asp) c.3352T>G (p.Tyr1118Asp) c.3169T>G (p.Tyr1057Asp) c.2890T>G (p.Tyr964Asp) c.1933T>G (p.Tyr645Asp) c.1924T>G (p.Tyr642Asp) | |
| 5 | g.37000865A>C | CA359518319 | NIPBL | c.3551A>C (p.Tyr1184Ser) c.1-63713A>C (n.1-63713A>C) c.2807A>C (p.Tyr936Ser) c.3353A>C (p.Tyr1118Ser) c.3170A>C (p.Tyr1057Ser) c.2891A>C (p.Tyr964Ser) c.1934A>C (p.Tyr645Ser) c.1925A>C (p.Tyr642Ser) | |
| 5 | g.37000865A>G | CA359518323 | NIPBL | c.3551A>G (p.Tyr1184Cys) c.1-63713A>G (n.1-63713A>G) c.2807A>G (p.Tyr936Cys) c.3353A>G (p.Tyr1118Cys) c.3170A>G (p.Tyr1057Cys) c.2891A>G (p.Tyr964Cys) c.1934A>G (p.Tyr645Cys) c.1925A>G (p.Tyr642Cys) | |
| 5 | g.37000865A>T | CA359518327 | NIPBL | c.3551A>T (p.Tyr1184Phe) c.1-63713A>T (n.1-63713A>T) c.2807A>T (p.Tyr936Phe) c.3353A>T (p.Tyr1118Phe) c.3170A>T (p.Tyr1057Phe) c.2891A>T (p.Tyr964Phe) c.1934A>T (p.Tyr645Phe) c.1925A>T (p.Tyr642Phe) | |
| 5 | g.37000866T>A | CA359518330 | NIPBL | c.3552T>A (p.Tyr1184Ter) c.1-63712T>A (n.1-63712T>A) c.2808T>A (p.Tyr936Ter) c.3354T>A (p.Tyr1118Ter) c.3171T>A (p.Tyr1057Ter) c.2892T>A (p.Tyr964Ter) c.1935T>A (p.Tyr645Ter) c.1926T>A (p.Tyr642Ter) | |
| 5 | g.37000866T>C | CA443904527 | NIPBL | c.3552T>C (p.Tyr1184=) c.1-63712T>C (n.1-63712T>C) c.2808T>C (p.Tyr936=) c.3354T>C (p.Tyr1118=) c.3171T>C (p.Tyr1057=) c.2892T>C (p.Tyr964=) c.1935T>C (p.Tyr645=) c.1926T>C (p.Tyr642=) | |
| 5 | g.37000866T>G | CA359518331 | NIPBL | c.3552T>G (p.Tyr1184Ter) c.1-63712T>G (n.1-63712T>G) c.2808T>G (p.Tyr936Ter) c.3354T>G (p.Tyr1118Ter) c.3171T>G (p.Tyr1057Ter) c.2892T>G (p.Tyr964Ter) c.1935T>G (p.Tyr645Ter) c.1926T>G (p.Tyr642Ter) | |
| 5 | g.37000867G>A | CA359518332 | NIPBL | c.3553G>A (p.Glu1185Lys) c.1-63711G>A (n.1-63711G>A) c.2809G>A (p.Glu937Lys) c.3355G>A (p.Glu1119Lys) c.3172G>A (p.Glu1058Lys) c.2893G>A (p.Glu965Lys) c.1936G>A (p.Glu646Lys) c.1927G>A (p.Glu643Lys) | |
| 5 | g.37000867G>C | CA359518335 | NIPBL | c.3553G>C (p.Glu1185Gln) c.1-63711G>C (n.1-63711G>C) c.2809G>C (p.Glu937Gln) c.3355G>C (p.Glu1119Gln) c.3172G>C (p.Glu1058Gln) c.2893G>C (p.Glu965Gln) c.1936G>C (p.Glu646Gln) c.1927G>C (p.Glu643Gln) | |
| 5 | g.37000867G>T | CA359518333 | NIPBL | c.3553G>T (p.Glu1185Ter) c.1-63711G>T (n.1-63711G>T) c.2809G>T (p.Glu937Ter) c.3355G>T (p.Glu1119Ter) c.3172G>T (p.Glu1058Ter) c.2893G>T (p.Glu965Ter) c.1936G>T (p.Glu646Ter) c.1927G>T (p.Glu643Ter) | |
| 5 | g.37000868A>C | CA359518337 | NIPBL | c.3554A>C (p.Glu1185Ala) c.1-63710A>C (n.1-63710A>C) c.2810A>C (p.Glu937Ala) c.3356A>C (p.Glu1119Ala) c.3173A>C (p.Glu1058Ala) c.2894A>C (p.Glu965Ala) c.1937A>C (p.Glu646Ala) c.1928A>C (p.Glu643Ala) | |
| 5 | g.37000868A>G | CA359518339 | NIPBL | c.3554A>G (p.Glu1185Gly) c.1-63710A>G (n.1-63710A>G) c.2810A>G (p.Glu937Gly) c.3356A>G (p.Glu1119Gly) c.3173A>G (p.Glu1058Gly) c.2894A>G (p.Glu965Gly) c.1937A>G (p.Glu646Gly) c.1928A>G (p.Glu643Gly) | |
| 5 | g.37000868A>T | CA359518342 | NIPBL | c.3554A>T (p.Glu1185Val) c.1-63710A>T (n.1-63710A>T) c.2810A>T (p.Glu937Val) c.3356A>T (p.Glu1119Val) c.3173A>T (p.Glu1058Val) c.2894A>T (p.Glu965Val) c.1937A>T (p.Glu646Val) c.1928A>T (p.Glu643Val) | |
| 5 | g.37000869A>C | CA359518343 | NIPBL | c.3555A>C (p.Glu1185Asp) c.1-63709A>C (n.1-63709A>C) c.2811A>C (p.Glu937Asp) c.3357A>C (p.Glu1119Asp) c.3174A>C (p.Glu1058Asp) c.2895A>C (p.Glu965Asp) c.1938A>C (p.Glu646Asp) c.1929A>C (p.Glu643Asp) | |
| 5 | g.37000869A>G | CA443904529 | NIPBL | c.3555A>G (p.Glu1185=) c.1-63709A>G (n.1-63709A>G) c.2811A>G (p.Glu937=) c.3357A>G (p.Glu1119=) c.3174A>G (p.Glu1058=) c.2895A>G (p.Glu965=) c.1938A>G (p.Glu646=) c.1929A>G (p.Glu643=) | |
| 5 | g.37000869A>T | CA359518344 | NIPBL | c.3555A>T (p.Glu1185Asp) c.1-63709A>T (n.1-63709A>T) c.2811A>T (p.Glu937Asp) c.3357A>T (p.Glu1119Asp) c.3174A>T (p.Glu1058Asp) c.2895A>T (p.Glu965Asp) c.1938A>T (p.Glu646Asp) c.1929A>T (p.Glu643Asp) | |
| 5 | g.37000870C>A | CA359518345 | NIPBL | c.3556C>A (p.Pro1186Thr) c.1-63708C>A (n.1-63708C>A) c.2812C>A (p.Pro938Thr) c.3358C>A (p.Pro1120Thr) c.3175C>A (p.Pro1059Thr) c.2896C>A (p.Pro966Thr) c.1939C>A (p.Pro647Thr) c.1930C>A (p.Pro644Thr) | |
| 5 | g.37000870C>G | CA359518347 | NIPBL | c.3556C>G (p.Pro1186Ala) c.1-63708C>G (n.1-63708C>G) c.2812C>G (p.Pro938Ala) c.3358C>G (p.Pro1120Ala) c.3175C>G (p.Pro1059Ala) c.2896C>G (p.Pro966Ala) c.1939C>G (p.Pro647Ala) c.1930C>G (p.Pro644Ala) | |
| 5 | g.37000870C>T | CA359518349 | NIPBL | c.3556C>T (p.Pro1186Ser) c.1-63708C>T (n.1-63708C>T) c.2812C>T (p.Pro938Ser) c.3358C>T (p.Pro1120Ser) c.3175C>T (p.Pro1059Ser) c.2896C>T (p.Pro966Ser) c.1939C>T (p.Pro647Ser) c.1930C>T (p.Pro644Ser) | |
| 5 | g.37000871C>A | CA117056439 | NIPBL | c.3557C>A (p.Pro1186Gln) c.1-63707C>A (n.1-63707C>A) c.2813C>A (p.Pro938Gln) c.3359C>A (p.Pro1120Gln) c.3176C>A (p.Pro1059Gln) c.2897C>A (p.Pro966Gln) c.1940C>A (p.Pro647Gln) c.1931C>A (p.Pro644Gln) | dbSNP |
| 5 | g.37000871C= | CA1539601364 | NIPBL | c.3557C= (p.Pro1186=) c.1-63707C= (n.1-63707C=) c.2813C= (p.Pro938=) c.3359C= (p.Pro1120=) c.3176C= (p.Pro1059=) c.2897C= (p.Pro966=) c.1940C= (p.Pro647=) c.1931C= (p.Pro644=) | |
| 5 | g.37000871C>G | CA117056440 | NIPBL | c.3557C>G (p.Pro1186Arg) c.1-63707C>G (n.1-63707C>G) c.2813C>G (p.Pro938Arg) c.3359C>G (p.Pro1120Arg) c.3176C>G (p.Pro1059Arg) c.2897C>G (p.Pro966Arg) c.1940C>G (p.Pro647Arg) c.1931C>G (p.Pro644Arg) | dbSNP |
| 5 | g.37000871C>T | CA359518358 | NIPBL | c.3557C>T (p.Pro1186Leu) c.1-63707C>T (n.1-63707C>T) c.2813C>T (p.Pro938Leu) c.3359C>T (p.Pro1120Leu) c.3176C>T (p.Pro1059Leu) c.2897C>T (p.Pro966Leu) c.1940C>T (p.Pro647Leu) c.1931C>T (p.Pro644Leu) | |
| 5 | g.37000872A>C | CA443904531 | NIPBL | c.3558A>C (p.Pro1186=) c.1-63706A>C (n.1-63706A>C) c.2814A>C (p.Pro938=) c.3360A>C (p.Pro1120=) c.3177A>C (p.Pro1059=) c.2898A>C (p.Pro966=) c.1941A>C (p.Pro647=) c.1932A>C (p.Pro644=) | |
| 5 | g.37000872A>G | CA443904532 | NIPBL | c.3558A>G (p.Pro1186=) c.1-63706A>G (n.1-63706A>G) c.2814A>G (p.Pro938=) c.3360A>G (p.Pro1120=) c.3177A>G (p.Pro1059=) c.2898A>G (p.Pro966=) c.1941A>G (p.Pro647=) c.1932A>G (p.Pro644=) | |
| 5 | g.37000872A>T | CA443904533 | NIPBL | c.3558A>T (p.Pro1186=) c.1-63706A>T (n.1-63706A>T) c.2814A>T (p.Pro938=) c.3360A>T (p.Pro1120=) c.3177A>T (p.Pro1059=) c.2898A>T (p.Pro966=) c.1941A>T (p.Pro647=) c.1932A>T (p.Pro644=) | |
| 5 | g.37000873A>C | CA359518372 | NIPBL | c.3559A>C (p.Lys1187Gln) c.1-63705A>C (n.1-63705A>C) c.2815A>C (p.Lys939Gln) c.3361A>C (p.Lys1121Gln) c.3178A>C (p.Lys1060Gln) c.2899A>C (p.Lys967Gln) c.1942A>C (p.Lys648Gln) c.1933A>C (p.Lys645Gln) | |
| 5 | g.37000873A>G | CA359518364 | NIPBL | c.3559A>G (p.Lys1187Glu) c.1-63705A>G (n.1-63705A>G) c.2815A>G (p.Lys939Glu) c.3361A>G (p.Lys1121Glu) c.3178A>G (p.Lys1060Glu) c.2899A>G (p.Lys967Glu) c.1942A>G (p.Lys648Glu) c.1933A>G (p.Lys645Glu) | |
| 5 | g.37000873A>T | CA359518362 | NIPBL | c.3559A>T (p.Lys1187Ter) c.1-63705A>T (n.1-63705A>T) c.2815A>T (p.Lys939Ter) c.3361A>T (p.Lys1121Ter) c.3178A>T (p.Lys1060Ter) c.2899A>T (p.Lys967Ter) c.1942A>T (p.Lys648Ter) c.1933A>T (p.Lys645Ter) | COSMIC COSMIC |
| 5 | g.37000874A>C | CA359518376 | NIPBL | c.3560A>C (p.Lys1187Thr) c.1-63704A>C (n.1-63704A>C) c.2816A>C (p.Lys939Thr) c.3362A>C (p.Lys1121Thr) c.3179A>C (p.Lys1060Thr) c.2900A>C (p.Lys967Thr) c.1943A>C (p.Lys648Thr) c.1934A>C (p.Lys645Thr) | |
| 5 | g.37000874A>G | CA359518392 | NIPBL | c.3560A>G (p.Lys1187Arg) c.1-63704A>G (n.1-63704A>G) c.2816A>G (p.Lys939Arg) c.3362A>G (p.Lys1121Arg) c.3179A>G (p.Lys1060Arg) c.2900A>G (p.Lys967Arg) c.1943A>G (p.Lys648Arg) c.1934A>G (p.Lys645Arg) | |
| 5 | g.37000874A>T | CA359518387 | NIPBL | c.3560A>T (p.Lys1187Ile) c.1-63704A>T (n.1-63704A>T) c.2816A>T (p.Lys939Ile) c.3362A>T (p.Lys1121Ile) c.3179A>T (p.Lys1060Ile) c.2900A>T (p.Lys967Ile) c.1943A>T (p.Lys648Ile) c.1934A>T (p.Lys645Ile) | |
| 5 | g.37000875A>C | CA359518397 | NIPBL | c.3561A>C (p.Lys1187Asn) c.1-63703A>C (n.1-63703A>C) c.2817A>C (p.Lys939Asn) c.3363A>C (p.Lys1121Asn) c.3180A>C (p.Lys1060Asn) c.2901A>C (p.Lys967Asn) c.1944A>C (p.Lys648Asn) c.1935A>C (p.Lys645Asn) | |
| 5 | g.37000875A>G | CA443904534 | NIPBL | c.3561A>G (p.Lys1187=) c.1-63703A>G (n.1-63703A>G) c.2817A>G (p.Lys939=) c.3363A>G (p.Lys1121=) c.3180A>G (p.Lys1060=) c.2901A>G (p.Lys967=) c.1944A>G (p.Lys648=) c.1935A>G (p.Lys645=) | |
| 5 | g.37000875A>T | CA359518398 | NIPBL | c.3561A>T (p.Lys1187Asn) c.1-63703A>T (n.1-63703A>T) c.2817A>T (p.Lys939Asn) c.3363A>T (p.Lys1121Asn) c.3180A>T (p.Lys1060Asn) c.2901A>T (p.Lys967Asn) c.1944A>T (p.Lys648Asn) c.1935A>T (p.Lys645Asn) | |
| 5 | g.37000876C>A | CA359518400 | NIPBL | c.3562C>A (p.Leu1188Ile) c.1-63702C>A (n.1-63702C>A) c.2818C>A (p.Leu940Ile) c.3364C>A (p.Leu1122Ile) c.3181C>A (p.Leu1061Ile) c.2902C>A (p.Leu968Ile) c.1945C>A (p.Leu649Ile) c.1936C>A (p.Leu646Ile) | |
| 5 | g.37000876C>G | CA359518404 | NIPBL | c.3562C>G (p.Leu1188Val) c.1-63702C>G (n.1-63702C>G) c.2818C>G (p.Leu940Val) c.3364C>G (p.Leu1122Val) c.3181C>G (p.Leu1061Val) c.2902C>G (p.Leu968Val) c.1945C>G (p.Leu649Val) c.1936C>G (p.Leu646Val) | |
| 5 | g.37000876C>T | CA443904535 | NIPBL | c.3562C>T (p.Leu1188=) c.1-63702C>T (n.1-63702C>T) c.2818C>T (p.Leu940=) c.3364C>T (p.Leu1122=) c.3181C>T (p.Leu1061=) c.2902C>T (p.Leu968=) c.1945C>T (p.Leu649=) c.1936C>T (p.Leu646=) | |
| 5 | g.37000876_37000877insG | CA2695204249 | NIPBL | c.3562_3563insG (p.Leu1188ArgfsTer4) c.1-63702_1-63701insG (n.1-63702_1-63701insG) c.2818_2819insG (p.Leu940ArgfsTer4) c.3364_3365insG (p.Leu1122ArgfsTer4) c.3181_3182insG (p.Leu1061ArgfsTer4) c.2902_2903insG (p.Leu968ArgfsTer4) c.1945_1946insG (p.Leu649ArgfsTer4) c.1936_1937insG (p.Leu646ArgfsTer4) | |
| 5 | g.37000877T>A | CA359518408 | NIPBL | c.3563T>A (p.Leu1188Gln) c.1-63701T>A (n.1-63701T>A) c.2819T>A (p.Leu940Gln) c.3365T>A (p.Leu1122Gln) c.3182T>A (p.Leu1061Gln) c.2903T>A (p.Leu968Gln) c.1946T>A (p.Leu649Gln) c.1937T>A (p.Leu646Gln) | |
| 5 | g.37000877T>C | CA359518412 | NIPBL | c.3563T>C (p.Leu1188Pro) c.1-63701T>C (n.1-63701T>C) c.2819T>C (p.Leu940Pro) c.3365T>C (p.Leu1122Pro) c.3182T>C (p.Leu1061Pro) c.2903T>C (p.Leu968Pro) c.1946T>C (p.Leu649Pro) c.1937T>C (p.Leu646Pro) |