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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394382C= , CM000673.2:g.17394382C= | GRCh38 |
| NC_000011.9:g.17415929C= , CM000673.1:g.17415929C= | GRCh37 |
| NC_000011.8:g.17372505C= | NCBI36 |
| NG_008867.1:g.87521G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4030G= | ||
| ENST00000526037.6:n.364G= | ||
| ENST00000528374.2:c.1020G= | ||
| ENST00000529967.6:n.2768G= | ||
| ENST00000532220.2:n.3662G= | ||
| ENST00000642611.2:n.5762G= | ||
| ENST00000644057.2:n.1005G= | ||
| ENST00000645004.2:n.1928G= | ||
| ENST00000682051.1:n.4591G= | ||
| ENST00000682110.1:n.4644G= | ||
| ENST00000682140.1:c.*215G= | ENSP00000507829.1:n.*215G= | |
| ENST00000682185.1:n.5734G= | ||
| ENST00000682204.1:c.*2567G= | ENSP00000507094.1:n.*2567G= | |
| ENST00000682215.1:n.5011G= | ||
| ENST00000682288.1:c.*2860G= | ENSP00000507506.1:n.*2860G= | |
| ENST00000682442.1:n.4864G= | ||
| ENST00000682528.1:n.4721G= | ||
| ENST00000682673.1:n.4588G= | ||
| ENST00000682805.1:n.5049G= | ||
| ENST00000682965.1:c.*851G= | ENSP00000508229.1:n.*851G= | |
| ENST00000683093.1:n.5624G= | ||
| ENST00000683136.1:c.4312G= | ENSP00000507768.1:p.Gly1438= | |
| ENST00000683153.1:n.4686G= | ||
| ENST00000683365.1:n.4746G= | ||
| ENST00000683377.1:n.4540G= | ||
| ENST00000683456.1:c.*1566G= | ENSP00000508318.1:n.*1566G= | |
| ENST00000683522.1:n.4726G= | ||
| ENST00000683562.1:c.*2494G= | ENSP00000508265.1:n.*2494G= | |
| ENST00000683693.1:n.6105G= | ||
| ENST00000683725.1:c.4325G= | ENSP00000507496.1:p.Arg1442= | |
| ENST00000684010.1:n.4639G= | ||
| ENST00000684014.1:n.616G= | ||
| ENST00000684157.1:n.5629G= | ||
| ENST00000684253.1:n.4547G= | ||
| ENST00000684288.1:c.*2601G= | ENSP00000507143.1:n.*2601G= | |
| ENST00000684313.1:n.4076G= | ||
| ENST00000684332.1:n.4717G= | ||
| ENST00000684371.1:n.4750G= | ||
| ENST00000684404.1:n.5672G= | ||
| ENST00000684442.1:n.4868G= | ||
| ENST00000684555.1:c.*2641G= | ENSP00000507705.1:n.*2641G= | |
| ENST00000684571.1:c.4270G= | ENSP00000506935.1:p.Gly1424= | |
| ENST00000684593.1:c.*4134G= | ENSP00000507005.1:n.*4134G= | |
| ENST00000684711.1:c.*2825G= | ENSP00000506841.1:n.*2825G= | |
| ENST00000302539.9:c.4432G= | ENSP00000303960.4:p.Gly1478= | |
| ENST00000389817.8:c.4429G= MANE Select | ENSP00000374467.4:p.Gly1477= | |
| ENST00000642271.1:c.4426G= | ENSP00000493749.1:p.Gly1476= | |
| ENST00000642579.1:c.2483G= | ||
| ENST00000642611.1:n.5647G= | ||
| ENST00000642902.1:c.4211G= | ||
| ENST00000643260.1:c.4429G= | ENSP00000494450.1:p.Gly1477= | |
| ENST00000643562.1:c.*2551G= | ENSP00000496124.1:n.*2551G= | |
| ENST00000643925.1:c.3069G= | ||
| ENST00000644057.1:n.588G= | ||
| ENST00000644484.1:c.*3815G= | ENSP00000493558.1:n.*3815G= | |
| ENST00000644675.1:c.*2601G= | ENSP00000494567.1:n.*2601G= | |
| ENST00000644757.1:c.*3203-1402G= | ENSP00000495085.1:n.*3203-1402G= | |
| ENST00000644772.1:c.4495G= | ENSP00000494321.1:p.Gly1499= | |
| ENST00000645004.1:n.2122G= | ||
| ENST00000645076.1:c.3524G= | ||
| ENST00000645417.1:c.1617G= | ||
| ENST00000645744.1:c.*4114G= | ENSP00000494564.1:n.*4114G= | |
| ENST00000645760.1:c.4850G= | ||
| ENST00000645884.1:c.*1712G= | ENSP00000495516.1:n.*1712G= | |
| ENST00000646003.1:c.*2451G= | ENSP00000495259.1:n.*2451G= | |
| ENST00000646207.1:c.*3266G= | ENSP00000495025.1:n.*3266G= | |
| ENST00000646276.1:c.*3833G= | ENSP00000496070.1:n.*3833G= | |
| ENST00000646592.1:c.3735G= | ||
| ENST00000646902.1:c.4396G= | ENSP00000494101.1:p.Gly1466= | |
| ENST00000646993.1:c.*2867G= | ENSP00000493720.1:n.*2867G= | |
| ENST00000647013.1:c.4435G= | ENSP00000496741.1:n.4435G= | |
| ENST00000647015.1:c.4180G= | ENSP00000495389.1:p.Gly1394= | |
| ENST00000647086.1:c.*4015G= | ENSP00000493677.1:n.*4015G= | |
| ENST00000647158.1:c.*2716G= | ENSP00000495744.1:n.*2716G= | |
| ENST00000302539.8:c.4432G= | ENSP00000303960.4:p.Gly1478= | |
| ENST00000389817.7:c.4429G= | ENSP00000374467.3:p.Gly1477= | |
| ENST00000525022.1:n.324G= | ||
| ENST00000526037.5:n.189G= | ||
| ENST00000526168.5:c.217G= | ||
| ENST00000531642.5:c.460G= | ||
| NM_000352.4:c.4429G= | NP_000343.2:p.Gly1477= | |
| NM_001287174.1:c.4432G= | NP_001274103.1:p.Gly1478= | |
| XM_011520331.1:c.4429G= | XP_011518633.1:p.Gly1477= | |
| XM_011520332.1:c.4328G= | XP_011518634.1:p.Arg1443= | |
| XM_011520333.1:c.2929G= | XP_011518635.1:p.Gly977= | |
| XR_930890.1:n.4391G= | ||
| NM_001351295.1:c.4495G= | NP_001338224.1:p.Gly1499= | |
| NM_001351296.1:c.4429G= | NP_001338225.1:p.Gly1477= | |
| NM_001351297.1:c.4426G= | NP_001338226.1:p.Gly1476= | |
| NR_147094.1:n.4724G= | ||
| XM_017018197.2:c.4498G= | XP_016873686.1:p.Gly1500= | |
| XM_017018199.1:c.4495G= | XP_016873688.1:p.Gly1499= | |
| XM_017018201.2:c.4394G= | XP_016873690.1:p.Arg1465= | |
| XM_017018202.1:c.2995G= | XP_016873691.1:p.Gly999= | |
| XM_017018204.1:c.2386G= | XP_016873693.1:p.Gly796= | |
| XM_024448668.1:c.2797G= | XP_024304436.1:p.Gly933= | |
| XR_001747945.2:n.4466G= | ||
| XR_001747946.2:n.4397G= | ||
| XR_002957189.1:n.6180G= | ||
| NM_000352.6:c.4429G= MANE Select | NP_000343.2:p.Gly1477= | |
| NM_001287174.2:c.4432G= | NP_001274103.1:p.Gly1478= | |
| NM_001351295.2:c.4495G= | NP_001338224.1:p.Gly1499= | |
| NM_001351296.2:c.4429G= | NP_001338225.1:p.Gly1477= | |
| NM_001351297.2:c.4426G= | NP_001338226.1:p.Gly1476= | |
| NR_147094.2:n.4724G= | ||
| NM_001287174.3:c.4432G= | NP_001274103.1:p.Gly1478= |