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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395900T>G , CM000673.2:g.17395900T>G | GRCh38 |
| NC_000011.9:g.17417447T>G , CM000673.1:g.17417447T>G | GRCh37 |
| NC_000011.8:g.17374023T>G | NCBI36 |
| NG_008867.1:g.86003A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3751A>C | ||
| ENST00000528374.2:c.741A>C | ||
| ENST00000529967.6:n.2489A>C | ||
| ENST00000532220.2:n.3383A>C | ||
| ENST00000642611.2:n.5350A>C | ||
| ENST00000644057.2:n.593A>C | ||
| ENST00000645004.2:n.1649A>C | ||
| ENST00000682051.1:n.4312A>C | ||
| ENST00000682110.1:n.4365A>C | ||
| ENST00000682140.1:c.4016A>C | ENSP00000507829.1:p.Glu1339Ala | |
| ENST00000682185.1:n.5455A>C | ||
| ENST00000682204.1:c.*2288A>C | ENSP00000507094.1:n.*2288A>C | |
| ENST00000682215.1:n.4732A>C | ||
| ENST00000682288.1:c.*2581A>C | ENSP00000507506.1:n.*2581A>C | |
| ENST00000682442.1:n.4585A>C | ||
| ENST00000682528.1:n.4442A>C | ||
| ENST00000682673.1:n.4309A>C | ||
| ENST00000682805.1:n.4770A>C | ||
| ENST00000682965.1:c.*572A>C | ENSP00000508229.1:n.*572A>C | |
| ENST00000683093.1:n.5449A>C | ||
| ENST00000683136.1:c.4033A>C | ENSP00000507768.1:p.Lys1345Gln | |
| ENST00000683153.1:n.4407A>C | ||
| ENST00000683365.1:n.4467A>C | ||
| ENST00000683377.1:n.4365A>C | ||
| ENST00000683456.1:c.*1287A>C | ENSP00000508318.1:n.*1287A>C | |
| ENST00000683522.1:n.4365A>C | ||
| ENST00000683562.1:c.*2319A>C | ENSP00000508265.1:n.*2319A>C | |
| ENST00000683693.1:n.5797A>C | ||
| ENST00000683725.1:c.4150A>C | ENSP00000507496.1:p.Lys1384Gln | |
| ENST00000684010.1:n.4360A>C | ||
| ENST00000684157.1:n.5350A>C | ||
| ENST00000684253.1:n.4268A>C | ||
| ENST00000684288.1:c.*2322A>C | ENSP00000507143.1:n.*2322A>C | |
| ENST00000684313.1:n.3797A>C | ||
| ENST00000684332.1:n.4438A>C | ||
| ENST00000684371.1:n.4471A>C | ||
| ENST00000684404.1:n.5393A>C | ||
| ENST00000684442.1:n.4589A>C | ||
| ENST00000684555.1:c.*2362A>C | ENSP00000507705.1:n.*2362A>C | |
| ENST00000684571.1:c.3991A>C | ENSP00000506935.1:p.Lys1331Gln | |
| ENST00000684593.1:c.*3855A>C | ENSP00000507005.1:n.*3855A>C | |
| ENST00000684711.1:c.*2546A>C | ENSP00000506841.1:n.*2546A>C | |
| ENST00000302539.9:c.4153A>C | ENSP00000303960.4:p.Lys1385Gln | |
| ENST00000389817.8:c.4150A>C MANE Select | ENSP00000374467.4:p.Lys1384Gln | |
| ENST00000642271.1:c.4147A>C | ENSP00000493749.1:p.Lys1383Gln | |
| ENST00000642579.1:c.2204A>C | ||
| ENST00000642611.1:n.5235A>C | ||
| ENST00000642902.1:c.3932A>C | ||
| ENST00000643260.1:c.4150A>C | ENSP00000494450.1:p.Lys1384Gln | |
| ENST00000643562.1:c.*2272A>C | ENSP00000496124.1:n.*2272A>C | |
| ENST00000643925.1:c.2790A>C | ||
| ENST00000644057.1:n.227A>C | ||
| ENST00000644484.1:c.*3536A>C | ENSP00000493558.1:n.*3536A>C | |
| ENST00000644675.1:c.*2322A>C | ENSP00000494567.1:n.*2322A>C | |
| ENST00000644757.1:c.*3202+364A>C | ENSP00000495085.1:n.*3202+364A>C | |
| ENST00000644772.1:c.4216A>C | ENSP00000494321.1:p.Lys1406Gln | |
| ENST00000645004.1:n.1843A>C | ||
| ENST00000645076.1:c.3349A>C | ||
| ENST00000645417.1:c.1338A>C | ||
| ENST00000645744.1:c.*3915A>C | ENSP00000494564.1:n.*3915A>C | |
| ENST00000645760.1:c.4571A>C | ||
| ENST00000645884.1:c.*1433A>C | ENSP00000495516.1:n.*1433A>C | |
| ENST00000646003.1:c.*2252A>C | ENSP00000495259.1:n.*2252A>C | |
| ENST00000646207.1:c.*2987A>C | ENSP00000495025.1:n.*2987A>C | |
| ENST00000646276.1:c.*3554A>C | ENSP00000496070.1:n.*3554A>C | |
| ENST00000646592.1:c.3456A>C | ||
| ENST00000646902.1:c.4117A>C | ENSP00000494101.1:p.Lys1373Gln | |
| ENST00000646993.1:c.*2692A>C | ENSP00000493720.1:n.*2692A>C | |
| ENST00000647013.1:c.4156A>C | ENSP00000496741.1:n.4156A>C | |
| ENST00000647015.1:c.3901A>C | ENSP00000495389.1:p.Lys1301Gln | |
| ENST00000647086.1:c.*3736A>C | ENSP00000493677.1:n.*3736A>C | |
| ENST00000647158.1:c.*2437A>C | ENSP00000495744.1:n.*2437A>C | |
| ENST00000302539.8:c.4153A>C | ENSP00000303960.4:p.Lys1385Gln | |
| ENST00000389817.7:c.4150A>C | ENSP00000374467.3:p.Lys1384Gln | |
| ENST00000525022.1:n.16A>C | ||
| ENST00000526168.5:c.18A>C | ||
| NM_000352.4:c.4150A>C | NP_000343.2:p.Lys1384Gln | |
| NM_001287174.1:c.4153A>C | NP_001274103.1:p.Lys1385Gln | |
| XM_011520331.1:c.4150A>C | XP_011518633.1:p.Lys1384Gln | |
| XM_011520332.1:c.4153A>C | XP_011518634.1:p.Lys1385Gln | |
| XM_011520333.1:c.2650A>C | XP_011518635.1:p.Lys884Gln | |
| XR_930890.1:n.4216A>C | ||
| NM_001351295.1:c.4216A>C | NP_001338224.1:p.Lys1406Gln | |
| NM_001351296.1:c.4150A>C | NP_001338225.1:p.Lys1384Gln | |
| NM_001351297.1:c.4147A>C | NP_001338226.1:p.Lys1383Gln | |
| NR_147094.1:n.4445A>C | ||
| XM_017018197.2:c.4219A>C | XP_016873686.1:p.Lys1407Gln | |
| XM_017018199.1:c.4216A>C | XP_016873688.1:p.Lys1406Gln | |
| XM_017018201.2:c.4219A>C | XP_016873690.1:p.Lys1407Gln | |
| XM_017018202.1:c.2716A>C | XP_016873691.1:p.Lys906Gln | |
| XM_017018204.1:c.2107A>C | XP_016873693.1:p.Lys703Gln | |
| XM_024448668.1:c.2518A>C | XP_024304436.1:p.Lys840Gln | |
| XR_001747945.2:n.4291A>C | ||
| XR_001747946.2:n.4222A>C | ||
| XR_002957189.1:n.5872A>C | ||
| NM_000352.6:c.4150A>C MANE Select | NP_000343.2:p.Lys1384Gln | |
| NM_001287174.2:c.4153A>C | NP_001274103.1:p.Lys1385Gln | |
| NM_001351295.2:c.4216A>C | NP_001338224.1:p.Lys1406Gln | |
| NM_001351296.2:c.4150A>C | NP_001338225.1:p.Lys1384Gln | |
| NM_001351297.2:c.4147A>C | NP_001338226.1:p.Lys1383Gln | |
| NR_147094.2:n.4445A>C | ||
| NM_001287174.3:c.4153A>C | NP_001274103.1:p.Lys1385Gln |