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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85507277A= , CM000668.2:g.85507277A= | GRCh38 |
| NC_000006.11:g.86216995A= , CM000668.1:g.86216995A= | GRCh37 |
| NC_000006.10:g.86273714A= | NCBI36 |
| NG_047171.1:g.91880T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000418862.2:c.886T= | ENSP00000391981.2:p.Leu296= | |
| ENST00000508658.6:c.2758T= | ENSP00000422814.2:p.Leu920= | |
| ENST00000509338.6:c.1879T= | ENSP00000424302.2:p.Leu627= | |
| ENST00000514801.2:n.1975T= | ||
| ENST00000515216.6:c.2746-21T= | ENSP00000425630.2:n.2746-21T= | |
| ENST00000681965.1:c.3896T= | ENSP00000507317.1:n.3896T= | |
| ENST00000681981.1:c.2674T= | ENSP00000507672.1:p.Leu892= | |
| ENST00000682022.1:c.*2650T= | ENSP00000508118.1:n.*2650T= | |
| ENST00000682023.1:c.*2381T= | ENSP00000507998.1:n.*2381T= | |
| ENST00000682034.1:c.*1925T= | ENSP00000506724.1:n.*1925T= | |
| ENST00000682057.1:c.*2187T= | ENSP00000507883.1:n.*2187T= | |
| ENST00000682083.1:c.*2668T= | ENSP00000506859.1:n.*2668T= | |
| ENST00000682106.1:n.5272T= | ||
| ENST00000682133.1:c.*321T= | ENSP00000507001.1:n.*321T= | |
| ENST00000682171.1:c.2599T= | ENSP00000508327.1:p.Leu867= | |
| ENST00000682174.1:c.*2381T= | ENSP00000507248.1:n.*2381T= | |
| ENST00000682374.1:c.*1304T= | ENSP00000507425.1:n.*1304T= | |
| ENST00000682412.1:c.2598T= | ENSP00000507297.1:n.2598T= | |
| ENST00000682454.1:c.*2121T= | ENSP00000507851.1:n.*2121T= | |
| ENST00000682455.1:c.*3736T= | ENSP00000507586.1:n.*3736T= | |
| ENST00000682464.1:c.*321T= | ENSP00000507625.1:n.*321T= | |
| ENST00000682491.1:c.2470T= | ENSP00000506970.1:p.Leu824= | |
| ENST00000682497.1:c.2755T= | ENSP00000507869.1:p.Leu919= | |
| ENST00000682504.1:c.*2664T= | ENSP00000507623.1:n.*2664T= | |
| ENST00000682514.1:n.8545T= | ||
| ENST00000682594.1:n.3374T= | ||
| ENST00000682633.1:c.*321T= | ENSP00000507843.1:n.*321T= | |
| ENST00000682660.1:c.2497T= | ENSP00000507539.1:p.Leu833= | |
| ENST00000682682.1:c.2593T= | ENSP00000507777.1:p.Leu865= | |
| ENST00000682688.1:c.*1763T= | ENSP00000507097.1:n.*1763T= | |
| ENST00000682694.1:c.*2121T= | ENSP00000507387.1:n.*2121T= | |
| ENST00000682709.1:n.8677T= | ||
| ENST00000682738.1:c.2566T= | ENSP00000507742.1:p.Leu856= | |
| ENST00000682776.1:c.*1509T= | ENSP00000507490.1:n.*1509T= | |
| ENST00000682854.1:c.*2746T= | ENSP00000507257.1:n.*2746T= | |
| ENST00000682878.1:c.*2446T= | ENSP00000507360.1:n.*2446T= | |
| ENST00000682926.1:n.2165T= | ||
| ENST00000682939.1:c.2470T= | ENSP00000506902.1:p.Leu824= | |
| ENST00000682991.1:c.2539T= | ENSP00000508193.1:p.Leu847= | |
| ENST00000682995.1:c.*1482T= | ENSP00000506807.1:n.*1482T= | |
| ENST00000683073.1:c.*876T= | ENSP00000507270.1:n.*876T= | |
| ENST00000683074.1:c.*2668T= | ENSP00000507008.1:n.*2668T= | |
| ENST00000683085.1:c.*833T= | ENSP00000507993.1:n.*833T= | |
| ENST00000683097.1:c.*1128T= | ENSP00000507556.1:n.*1128T= | |
| ENST00000683126.1:c.*2278T= | ENSP00000507507.1:n.*2278T= | |
| ENST00000683195.1:c.*2121T= | ENSP00000508190.1:n.*2121T= | |
| ENST00000683196.1:c.*2121T= | ENSP00000508297.1:n.*2121T= | |
| ENST00000683364.1:c.*2628T= | ENSP00000507791.1:n.*2628T= | |
| ENST00000683436.1:c.*1789T= | ENSP00000506874.1:n.*1789T= | |
| ENST00000683458.1:c.*1509T= | ENSP00000508204.1:n.*1509T= | |
| ENST00000683473.1:n.3869T= | ||
| ENST00000683479.1:c.2758T= | ENSP00000507368.1:p.Leu920= | |
| ENST00000683481.1:c.*1640T= | ENSP00000507015.1:n.*1640T= | |
| ENST00000683541.1:c.2755T= | ENSP00000507116.1:p.Leu919= | |
| ENST00000683542.1:c.*2282T= | ENSP00000506893.1:n.*2282T= | |
| ENST00000683577.1:c.*321T= | ENSP00000507516.1:n.*321T= | |
| ENST00000683583.1:c.*5172T= | ENSP00000507244.1:n.*5172T= | |
| ENST00000683643.1:c.2626T= | ENSP00000507444.1:p.Leu876= | |
| ENST00000683698.1:c.*2274T= | ENSP00000507000.1:n.*2274T= | |
| ENST00000683726.1:c.*2278T= | ENSP00000507744.1:n.*2278T= | |
| ENST00000683754.1:c.2677T= | ENSP00000507707.1:p.Leu893= | |
| ENST00000683763.1:n.1456T= | ||
| ENST00000683785.1:c.2623T= | ENSP00000507188.1:p.Leu875= | |
| ENST00000683803.1:c.*1509T= | ENSP00000508216.1:n.*1509T= | |
| ENST00000683857.1:c.*2187T= | ENSP00000508015.1:n.*2187T= | |
| ENST00000683873.1:c.*2333T= | ENSP00000506829.1:n.*2333T= | |
| ENST00000683878.1:c.*2039T= | ENSP00000507449.1:n.*2039T= | |
| ENST00000683880.1:c.*2282T= | ENSP00000508357.1:n.*2282T= | |
| ENST00000683898.1:c.2593T= | ENSP00000506897.1:p.Leu865= | |
| ENST00000683909.1:n.4788T= | ||
| ENST00000684017.1:n.8270T= | ||
| ENST00000684108.1:n.8677T= | ||
| ENST00000684118.1:c.2743-21T= | ENSP00000507950.1:n.2743-21T= | |
| ENST00000684150.1:c.2599T= | ENSP00000507401.1:p.Leu867= | |
| ENST00000684220.1:c.*2628T= | ENSP00000507382.1:n.*2628T= | |
| ENST00000684239.1:c.*2383T= | ENSP00000507479.1:n.*2383T= | |
| ENST00000684273.1:c.*2251T= | ENSP00000508063.1:n.*2251T= | |
| ENST00000684281.1:c.2407T= | ENSP00000507932.1:p.Leu803= | |
| ENST00000684299.1:c.*321T= | ENSP00000507637.1:n.*321T= | |
| ENST00000684319.1:c.*321T= | ENSP00000508346.1:n.*321T= | |
| ENST00000684422.1:c.*2431T= | ENSP00000507146.1:n.*2431T= | |
| ENST00000684451.1:c.*2063T= | ENSP00000507384.1:n.*2063T= | |
| ENST00000684570.1:c.2821T= | ENSP00000508127.1:p.Leu941= | |
| ENST00000684581.1:c.*579T= | ENSP00000507294.1:n.*579T= | |
| ENST00000684647.1:c.2467T= | ENSP00000506873.1:p.Leu823= | |
| ENST00000684680.1:c.2383T= | ENSP00000507491.1:p.Leu795= | |
| ENST00000684717.1:c.2875T= | ENSP00000507024.1:p.Leu959= | |
| ENST00000314673.8:c.2758T= MANE Select | ENSP00000313121.3:p.Leu920= | |
| ENST00000314673.7:c.2758T= | ENSP00000313121.3:p.Leu920= | |
| ENST00000346348.7:c.2599T= | ENSP00000257769.3:p.Leu867= | |
| ENST00000369627.6:c.2731T= | ENSP00000358641.2:p.Leu911= | |
| ENST00000474645.6:n.503T= | ||
| ENST00000503491.5:n.3247T= | ||
| ENST00000505648.5:c.2602T= | ENSP00000427380.1:p.Leu868= | |
| ENST00000508658.5:c.474T= | ||
| ENST00000508980.5:n.3364T= | ||
| ENST00000513865.5:c.1915T= | ENSP00000420938.1:p.Leu639= | |
| NM_001297614.2:c.2731T= | NP_001284543.1:p.Leu911= | |
| NM_001304479.1:c.2602T= | NP_001291408.1:p.Leu868= | |
| NM_020468.5:c.2599T= | NP_065201.1:p.Leu867= | |
| NM_153816.5:c.2758T= | NP_722523.1:p.Leu920= | |
| XM_005248738.3:c.2755T= | XP_005248795.1:p.Leu919= | |
| XM_005248740.3:c.2626T= | XP_005248797.1:p.Leu876= | |
| XM_011535978.1:c.2539T= | XP_011534280.1:p.Leu847= | |
| XM_011535979.1:c.2470T= | XP_011534281.1:p.Leu824= | |
| XM_011535980.1:c.1603T= | XP_011534282.1:p.Leu535= | |
| XR_942523.1:n.2866T= | ||
| NM_001350532.1:c.2821T= | NP_001337461.1:p.Leu941= | |
| NM_001350533.1:c.2755T= | NP_001337462.1:p.Leu919= | |
| NM_001350534.1:c.2728T= | NP_001337463.1:p.Leu910= | |
| NM_001350535.1:c.2743-21T= | NP_001337464.1:n.2743-21T= | |
| NM_001350536.1:c.2626T= | NP_001337465.1:p.Leu876= | |
| NM_001350537.1:c.2623T= | NP_001337466.1:p.Leu875= | |
| NM_001350538.1:c.2614T= | NP_001337467.1:p.Leu872= | |
| NM_001350539.1:c.2599T= | NP_001337468.1:p.Leu867= | |
| NM_001350540.1:c.2593T= | NP_001337469.1:p.Leu865= | |
| NM_001350541.1:c.2566T= | NP_001337470.1:p.Leu856= | |
| NM_001350542.1:c.2470T= | NP_001337471.1:p.Leu824= | |
| NM_001350543.1:c.2467T= | NP_001337472.1:p.Leu823= | |
| NM_001350544.1:c.2458T= | NP_001337473.1:p.Leu820= | |
| NM_001350545.1:c.2314T= | NP_001337474.1:p.Leu772= | |
| NM_001350546.1:c.2314T= | NP_001337475.1:p.Leu772= | |
| NM_001350547.1:c.1708T= | NP_001337476.1:p.Leu570= | |
| NM_001350548.1:c.1603T= | NP_001337477.1:p.Leu535= | |
| NM_001350549.1:c.1603T= | NP_001337478.1:p.Leu535= | |
| NM_001350550.1:c.1603T= | NP_001337479.1:p.Leu535= | |
| NM_001350551.1:c.1603T= | NP_001337480.1:p.Leu535= | |
| NM_001350552.1:c.1603T= | NP_001337481.1:p.Leu535= | |
| NM_001350553.1:c.1576T= | NP_001337482.1:p.Leu526= | |
| NR_146774.1:n.3192T= | ||
| NR_146775.1:n.3195T= | ||
| NR_146776.1:n.3318T= | ||
| NR_146777.1:n.3446T= | ||
| NR_146778.1:n.3450T= | ||
| NR_146779.1:n.3447T= | ||
| XM_017011090.1:c.2599T= | XP_016866579.1:p.Leu867= | |
| XM_024446498.1:c.2467T= | XP_024302266.1:p.Leu823= | |
| XM_024446499.1:c.1603T= | XP_024302267.1:p.Leu535= | |
| NM_153816.6:c.2758T= MANE Select | NP_722523.1:p.Leu920= | |
| NM_001297614.3:c.2731T= | NP_001284543.1:p.Leu911= | |
| NM_001304479.2:c.2602T= | NP_001291408.1:p.Leu868= | |
| NM_001350532.2:c.2821T= | NP_001337461.1:p.Leu941= | |
| NM_001350533.2:c.2755T= | NP_001337462.1:p.Leu919= | |
| NM_001350534.2:c.2728T= | NP_001337463.1:p.Leu910= | |
| NM_001350535.2:c.2743-21T= | NP_001337464.1:n.2743-21T= | |
| NM_001350536.2:c.2626T= | NP_001337465.1:p.Leu876= | |
| NM_001350537.2:c.2623T= | NP_001337466.1:p.Leu875= | |
| NM_001350538.2:c.2614T= | NP_001337467.1:p.Leu872= | |
| NM_001350539.2:c.2599T= | NP_001337468.1:p.Leu867= | |
| NM_001350540.2:c.2593T= | NP_001337469.1:p.Leu865= | |
| NM_001350541.2:c.2566T= | NP_001337470.1:p.Leu856= | |
| NM_001350542.2:c.2470T= | NP_001337471.1:p.Leu824= | |
| NM_001350543.2:c.2467T= | NP_001337472.1:p.Leu823= | |
| NM_001350544.2:c.2458T= | NP_001337473.1:p.Leu820= | |
| NM_001350545.2:c.2314T= | NP_001337474.1:p.Leu772= | |
| NM_001350546.2:c.2314T= | NP_001337475.1:p.Leu772= | |
| NM_001350547.2:c.1708T= | NP_001337476.1:p.Leu570= | |
| NM_001350548.2:c.1603T= | NP_001337477.1:p.Leu535= | |
| NM_001350549.2:c.1603T= | NP_001337478.1:p.Leu535= | |
| NM_001350550.2:c.1603T= | NP_001337479.1:p.Leu535= | |
| NM_001350551.2:c.1603T= | NP_001337480.1:p.Leu535= | |
| NM_001350552.2:c.1603T= | NP_001337481.1:p.Leu535= | |
| NM_001350553.2:c.1576T= | NP_001337482.1:p.Leu526= | |
| NM_020468.6:c.2599T= | NP_065201.1:p.Leu867= | |
| NR_146774.2:n.2894T= | ||
| NR_146775.2:n.2897T= | ||
| NR_146776.2:n.3020T= | ||
| NR_146777.2:n.3148T= | ||
| NR_146778.2:n.3152T= | ||
| NR_146779.2:n.3149T= |