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.152148777T= , CM000669.2:g.152148777T= | GRCh38 |
| NC_000007.13:g.151845862T= , CM000669.1:g.151845862T= | GRCh37 |
| NC_000007.12:g.151476795T= | NCBI36 |
| NG_033948.1:g.292229A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682040.1:c.1338A= | ||
| ENST00000682116.1:n.2282A= | ||
| ENST00000682283.1:c.13321A= | ENSP00000507485.1:p.Lys4441= | |
| ENST00000682629.1:n.2450A= | ||
| ENST00000683120.1:n.8342A= | ||
| ENST00000683178.1:c.3723A= | ||
| ENST00000683200.1:c.10660A= | ENSP00000508052.1:p.Lys3554= | |
| ENST00000683337.1:n.4780A= | ||
| ENST00000683502.1:c.3795A= | ||
| ENST00000683621.1:n.1916A= | ||
| ENST00000683640.1:n.1866A= | ||
| ENST00000684069.1:c.1567A= | ENSP00000507650.1:p.Lys523= | |
| ENST00000684261.1:c.8047A= | ENSP00000508097.1:p.Lys2683= | |
| ENST00000684649.1:c.3795A= | ||
| ENST00000262189.11:c.13150A= MANE Select | ENSP00000262189.6:p.Lys4384= | |
| ENST00000360104.8:c.8937A= | ||
| ENST00000418061.2:c.3792A= | ||
| ENST00000424877.6:c.3726A= | ||
| ENST00000679393.1:n.7861A= | ||
| ENST00000679560.1:c.8050A= | ENSP00000505094.1:p.Lys2684= | |
| ENST00000679882.1:c.12715A= | ENSP00000506154.1:p.Lys4239= | |
| ENST00000680029.1:c.3727A= | ||
| ENST00000680877.1:c.8050A= | ENSP00000505724.1:p.Lys2684= | |
| ENST00000681923.1:n.2165A= | ||
| ENST00000262189.10:c.13150A= | ENSP00000262189.6:p.Lys4384= | |
| ENST00000355193.6:c.13150A= | ENSP00000347325.3:p.Lys4384= | |
| ENST00000360104.7:c.5831A= | ||
| ENST00000424877.5:c.3001A= | ENSP00000410411.1:p.Lys1001= | |
| ENST00000473186.5:n.11032A= | ||
| ENST00000558084.5:c.*10670A= | ENSP00000453752.1:n.*10670A= | |
| NM_170606.2:c.13150A= | NP_733751.2:p.Lys4384= | |
| XM_005250025.3:c.13366A= | XP_005250082.1:p.Lys4456= | |
| XM_005250026.2:c.13363A= | XP_005250083.1:p.Lys4455= | |
| XM_005250027.3:c.13363A= | XP_005250084.1:p.Lys4455= | |
| XM_005250028.3:c.13366A= | XP_005250085.1:p.Lys4456= | |
| XM_005250031.3:c.13201A= | XP_005250088.1:p.Lys4401= | |
| XM_006716077.2:c.13363A= | XP_006716140.1:p.Lys4455= | |
| XM_006716078.2:c.13294A= | XP_006716141.1:p.Lys4432= | |
| XM_006716079.2:c.13198A= | XP_006716142.1:p.Lys4400= | |
| XM_011516450.1:c.13318A= | XP_011514752.1:p.Lys4440= | |
| XM_011516451.1:c.13246A= | XP_011514753.1:p.Lys4416= | |
| XM_011516452.1:c.13213A= | XP_011514754.1:p.Lys4405= | |
| XM_011516453.1:c.13129A= | XP_011514755.1:p.Lys4377= | |
| XM_011516454.1:c.12451A= | XP_011514756.1:p.Lys4151= | |
| XM_011516455.1:c.10912A= | XP_011514757.1:p.Lys3638= | |
| XM_011516456.1:c.13318A= | XP_011514758.1:p.Lys4440= | |
| XM_005250025.4:c.13366A= | XP_005250082.1:p.Lys4456= | |
| XM_005250026.3:c.13363A= | XP_005250083.1:p.Lys4455= | |
| XM_005250027.4:c.13363A= | XP_005250084.1:p.Lys4455= | |
| XM_005250028.4:c.13366A= | XP_005250085.1:p.Lys4456= | |
| XM_005250031.4:c.13201A= | XP_005250088.1:p.Lys4401= | |
| XM_006716077.3:c.13363A= | XP_006716140.1:p.Lys4455= | |
| XM_006716078.3:c.13294A= | XP_006716141.1:p.Lys4432= | |
| XM_006716079.3:c.13198A= | XP_006716142.1:p.Lys4400= | |
| XM_011516450.2:c.13318A= | XP_011514752.1:p.Lys4440= | |
| XM_011516451.2:c.13246A= | XP_011514753.1:p.Lys4416= | |
| XM_011516452.2:c.13213A= | XP_011514754.1:p.Lys4405= | |
| XM_011516453.2:c.13129A= | XP_011514755.1:p.Lys4377= | |
| XM_011516454.2:c.12451A= | XP_011514756.1:p.Lys4151= | |
| XM_011516456.2:c.13318A= | XP_011514758.1:p.Lys4440= | |
| XM_017012480.1:c.13366A= | XP_016867969.1:p.Lys4456= | |
| XM_017012481.1:c.13363A= | XP_016867970.1:p.Lys4455= | |
| XM_017012482.1:c.13363A= | XP_016867971.1:p.Lys4455= | |
| XM_017012483.1:c.13363A= | XP_016867972.1:p.Lys4455= | |
| XM_017012484.1:c.13333A= | XP_016867973.1:p.Lys4445= | |
| XM_017012485.1:c.13315A= | XP_016867974.1:p.Lys4439= | |
| XM_017012486.1:c.13291A= | XP_016867975.1:p.Lys4431= | |
| XM_017012487.1:c.13219A= | XP_016867976.1:p.Lys4407= | |
| XM_017012488.1:c.13183A= | XP_016867977.1:p.Lys4395= | |
| XM_017012489.1:c.10036A= | XP_016867978.1:p.Lys3346= | |
| XM_017012490.2:c.9640A= | XP_016867979.1:p.Lys3214= | |
| XM_024446852.1:c.13363A= | XP_024302620.1:p.Lys4455= | |
| XM_024446853.1:c.13291A= | XP_024302621.1:p.Lys4431= | |
| NM_170606.3:c.13150A= MANE Select | NP_733751.2:p.Lys4384= |