This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68197372A>T , CM000672.2:g.68197372A>T | GRCh38 |
| NC_000010.10:g.69957129A>T , CM000672.1:g.69957129A>T | GRCh37 |
| NC_000010.9:g.69627135A>T | NCBI36 |
| NG_032118.1:g.96256A>T , LRG_410:g.96256A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2354A>T | ENSP00000346369.2:p.Glu785Val | |
| ENST00000540630.6:c.3233A>T | ENSP00000441668.3:p.Glu1078Val | |
| ENST00000613327.5:c.3179A>T | ENSP00000480757.2:p.Glu1060Val | |
| ENST00000688812.1:c.*442A>T | ENSP00000510658.1:n.*442A>T | |
| ENST00000690544.1:c.*2450A>T | ENSP00000508989.1:n.*2450A>T | |
| ENST00000358913.10:c.3179A>T MANE Select | ENSP00000351790.5:p.Glu1060Val | |
| ENST00000354393.6:c.2354A>T | ENSP00000346369.2:p.Glu785Val | |
| ENST00000358913.9:c.3179A>T | ENSP00000351790.5:p.Glu1060Val | |
| ENST00000540630.5:c.3179A>T | ENSP00000441668.2:p.Glu1060Val | |
| ENST00000613327.4:c.2297A>T | ENSP00000480757.1:p.Glu766Val | |
| NM_001256267.1:c.3179A>T | NP_001243196.1:p.Glu1060Val | |
| NM_001256268.1:c.2297A>T | NP_001243197.1:p.Glu766Val | |
| NM_032578.3:c.3179A>T , LRG_410t1:c.3179A>T | NP_115967.2:p.Glu1060Val | |
| NR_045662.3:n.2606A>T | ||
| NR_045663.3:n.3308A>T | ||
| XM_006718043.2:c.3233A>T | XP_006718106.1:p.Glu1078Val | |
| XM_011540292.1:c.3209A>T | XP_011538594.1:p.Glu1070Val | |
| XM_017016833.1:c.3257A>T | XP_016872322.1:p.Glu1086Val | |
| XM_017016834.2:c.3179A>T | XP_016872323.1:p.Glu1060Val | |
| XM_024448236.1:c.2057A>T | XP_024304004.1:p.Glu686Val | |
| NR_045662.4:n.2716A>T | ||
| NR_045663.4:n.3253A>T | ||
| NM_001256267.2:c.3179A>T | NP_001243196.1:p.Glu1060Val | |
| NM_001256268.2:c.2297A>T | NP_001243197.1:p.Glu766Val | |
| NM_032578.4:c.3179A>T MANE Select | NP_115967.2:p.Glu1060Val |