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_000007.14:g.152148784T= , CM000669.2:g.152148784T= | GRCh38 |
| NC_000007.13:g.151845869T= , CM000669.1:g.151845869T= | GRCh37 |
| NC_000007.12:g.151476802T= | NCBI36 |
| NG_033948.1:g.292222A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682040.1:c.1331A= | ||
| ENST00000682116.1:n.2275A= | ||
| ENST00000682283.1:c.13314A= | ENSP00000507485.1:p.Glu4438= | |
| ENST00000682629.1:n.2443A= | ||
| ENST00000683120.1:n.8335A= | ||
| ENST00000683178.1:c.3716A= | ||
| ENST00000683200.1:c.10653A= | ENSP00000508052.1:p.Glu3551= | |
| ENST00000683337.1:n.4773A= | ||
| ENST00000683502.1:c.3788A= | ||
| ENST00000683621.1:n.1909A= | ||
| ENST00000683640.1:n.1859A= | ||
| ENST00000684069.1:c.1560A= | ENSP00000507650.1:p.Glu520= | |
| ENST00000684261.1:c.8040A= | ENSP00000508097.1:p.Glu2680= | |
| ENST00000684649.1:c.3788A= | ||
| ENST00000262189.11:c.13143A= MANE Select | ENSP00000262189.6:p.Glu4381= | |
| ENST00000360104.8:c.8930A= | ||
| ENST00000418061.2:c.3785A= | ||
| ENST00000424877.6:c.3719A= | ||
| ENST00000679393.1:n.7854A= | ||
| ENST00000679560.1:c.8043A= | ENSP00000505094.1:p.Glu2681= | |
| ENST00000679882.1:c.12708A= | ENSP00000506154.1:p.Glu4236= | |
| ENST00000680029.1:c.3720A= | ||
| ENST00000680877.1:c.8043A= | ENSP00000505724.1:p.Glu2681= | |
| ENST00000681923.1:n.2158A= | ||
| ENST00000262189.10:c.13143A= | ENSP00000262189.6:p.Glu4381= | |
| ENST00000355193.6:c.13143A= | ENSP00000347325.3:p.Glu4381= | |
| ENST00000360104.7:c.5824A= | ||
| ENST00000424877.5:c.2994A= | ENSP00000410411.1:p.Glu998= | |
| ENST00000473186.5:n.11025A= | ||
| ENST00000558084.5:c.*10663A= | ENSP00000453752.1:n.*10663A= | |
| NM_170606.2:c.13143A= | NP_733751.2:p.Glu4381= | |
| XM_005250025.3:c.13359A= | XP_005250082.1:p.Glu4453= | |
| XM_005250026.2:c.13356A= | XP_005250083.1:p.Glu4452= | |
| XM_005250027.3:c.13356A= | XP_005250084.1:p.Glu4452= | |
| XM_005250028.3:c.13359A= | XP_005250085.1:p.Glu4453= | |
| XM_005250031.3:c.13194A= | XP_005250088.1:p.Glu4398= | |
| XM_006716077.2:c.13356A= | XP_006716140.1:p.Glu4452= | |
| XM_006716078.2:c.13287A= | XP_006716141.1:p.Glu4429= | |
| XM_006716079.2:c.13191A= | XP_006716142.1:p.Glu4397= | |
| XM_011516450.1:c.13311A= | XP_011514752.1:p.Glu4437= | |
| XM_011516451.1:c.13239A= | XP_011514753.1:p.Glu4413= | |
| XM_011516452.1:c.13206A= | XP_011514754.1:p.Glu4402= | |
| XM_011516453.1:c.13122A= | XP_011514755.1:p.Glu4374= | |
| XM_011516454.1:c.12444A= | XP_011514756.1:p.Glu4148= | |
| XM_011516455.1:c.10905A= | XP_011514757.1:p.Glu3635= | |
| XM_011516456.1:c.13311A= | XP_011514758.1:p.Glu4437= | |
| XM_005250025.4:c.13359A= | XP_005250082.1:p.Glu4453= | |
| XM_005250026.3:c.13356A= | XP_005250083.1:p.Glu4452= | |
| XM_005250027.4:c.13356A= | XP_005250084.1:p.Glu4452= | |
| XM_005250028.4:c.13359A= | XP_005250085.1:p.Glu4453= | |
| XM_005250031.4:c.13194A= | XP_005250088.1:p.Glu4398= | |
| XM_006716077.3:c.13356A= | XP_006716140.1:p.Glu4452= | |
| XM_006716078.3:c.13287A= | XP_006716141.1:p.Glu4429= | |
| XM_006716079.3:c.13191A= | XP_006716142.1:p.Glu4397= | |
| XM_011516450.2:c.13311A= | XP_011514752.1:p.Glu4437= | |
| XM_011516451.2:c.13239A= | XP_011514753.1:p.Glu4413= | |
| XM_011516452.2:c.13206A= | XP_011514754.1:p.Glu4402= | |
| XM_011516453.2:c.13122A= | XP_011514755.1:p.Glu4374= | |
| XM_011516454.2:c.12444A= | XP_011514756.1:p.Glu4148= | |
| XM_011516456.2:c.13311A= | XP_011514758.1:p.Glu4437= | |
| XM_017012480.1:c.13359A= | XP_016867969.1:p.Glu4453= | |
| XM_017012481.1:c.13356A= | XP_016867970.1:p.Glu4452= | |
| XM_017012482.1:c.13356A= | XP_016867971.1:p.Glu4452= | |
| XM_017012483.1:c.13356A= | XP_016867972.1:p.Glu4452= | |
| XM_017012484.1:c.13326A= | XP_016867973.1:p.Glu4442= | |
| XM_017012485.1:c.13308A= | XP_016867974.1:p.Glu4436= | |
| XM_017012486.1:c.13284A= | XP_016867975.1:p.Glu4428= | |
| XM_017012487.1:c.13212A= | XP_016867976.1:p.Glu4404= | |
| XM_017012488.1:c.13176A= | XP_016867977.1:p.Glu4392= | |
| XM_017012489.1:c.10029A= | XP_016867978.1:p.Glu3343= | |
| XM_017012490.2:c.9633A= | XP_016867979.1:p.Glu3211= | |
| XM_024446852.1:c.13356A= | XP_024302620.1:p.Glu4452= | |
| XM_024446853.1:c.13284A= | XP_024302621.1:p.Glu4428= | |
| NM_170606.3:c.13143A= MANE Select | NP_733751.2:p.Glu4381= |