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:
ENST00000409709 (MANE Select)
0.596
ENST00000458637
0.596
ENST00000409619
0.596
ENST00000545136
0.596
ENST00000358342
0.596
ENST00000343356
0.596
ENST00000341717
0.596
ENST00000458169
0.596
ENST00000544424
0.596
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77205617G>A , CM000673.2:g.77205617G>A | GRCh38 |
| NC_000011.9:g.76916662G>A , CM000673.1:g.76916662G>A | GRCh37 |
| NC_000011.8:g.76594310G>A | NCBI36 |
| NG_009086.1:g.82353G>A | |
| NG_009086.2:g.82372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5636G>A MANE Select | ENSP00000386331.3:p.Arg1879Lys | |
| ENST00000670577.1:c.3463G>A | ||
| ENST00000409619.6:c.5489G>A | ENSP00000386635.2:p.Arg1830Lys | |
| ENST00000409709.7:c.5636G>A | ENSP00000386331.3:p.Arg1879Lys | |
| ENST00000458169.2:c.3062G>A | ENSP00000417017.2:p.Arg1021Lys | |
| ENST00000458637.6:c.5522G>A | ENSP00000392185.2:p.Arg1841Lys | |
| ENST00000481328.7:n.3172G>A | ||
| ENST00000605744.1:n.257G>A | ||
| NM_000260.3:c.5636G>A | NP_000251.3:p.Arg1879Lys | |
| NM_001127180.1:c.5522G>A | NP_001120652.1:p.Arg1841Lys | |
| XM_005274012.2:c.5519G>A | XP_005274069.1:p.Arg1840Lys | |
| XM_006718558.2:c.5627G>A | XP_006718621.1:p.Arg1876Lys | |
| XM_006718559.2:c.5522G>A | XP_006718622.1:p.Arg1841Lys | |
| XM_006718560.2:c.5519G>A | XP_006718623.1:p.Arg1840Lys | |
| XM_006718561.2:c.5522G>A | XP_006718624.1:p.Arg1841Lys | |
| XM_011545044.1:c.5636G>A | XP_011543346.1:p.Arg1879Lys | |
| XM_011545045.1:c.5630G>A | XP_011543347.1:p.Arg1877Lys | |
| XM_011545046.1:c.5603G>A | XP_011543348.1:p.Arg1868Lys | |
| XM_011545047.1:c.5540G>A | XP_011543349.1:p.Arg1847Lys | |
| XM_011545048.1:c.5411G>A | XP_011543350.1:p.Arg1804Lys | |
| XM_011545049.1:c.5399G>A | XP_011543351.1:p.Arg1800Lys | |
| XM_011545050.1:c.5372G>A | XP_011543352.1:p.Arg1791Lys | |
| XM_011545051.1:c.5636G>A | XP_011543353.1:p.Arg1879Lys | |
| XM_011545052.1:c.*1G>A | XP_011543354.1:n.*1G>A | |
| XR_949938.1:n.5956G>A | ||
| XR_949941.1:n.5956G>A | ||
| XR_949942.1:n.5859G>A | ||
| XM_011545044.2:c.5636G>A | XP_011543346.1:p.Arg1879Lys | |
| XM_011545046.2:c.5726G>A | XP_011543348.2:p.Arg1909Lys | |
| XM_011545050.2:c.5372G>A | XP_011543352.1:p.Arg1791Lys | |
| XM_017017778.1:c.5720G>A | XP_016873267.1:p.Arg1907Lys | |
| XM_017017779.1:c.5717G>A | XP_016873268.1:p.Arg1906Lys | |
| XM_017017780.1:c.5726G>A | XP_016873269.1:p.Arg1909Lys | |
| XM_017017781.1:c.5630G>A | XP_016873270.1:p.Arg1877Lys | |
| XM_017017782.1:c.5612G>A | XP_016873271.1:p.Arg1871Lys | |
| XM_017017783.1:c.5609G>A | XP_016873272.1:p.Arg1870Lys | |
| XM_017017784.1:c.5609G>A | XP_016873273.1:p.Arg1870Lys | |
| XM_017017785.1:c.5489G>A | XP_016873274.1:p.Arg1830Lys | |
| XM_017017786.1:c.5726G>A | XP_016873275.1:p.Arg1909Lys | |
| XM_017017788.1:c.5612G>A | XP_016873277.1:p.Arg1871Lys | |
| XR_001747885.1:n.5741G>A | ||
| XR_001747886.1:n.5656G>A | ||
| XR_001747887.1:n.5727G>A | ||
| XR_001747888.1:n.5642G>A | ||
| NM_000260.4:c.5636G>A MANE Select | NP_000251.3:p.Arg1879Lys | |
| NM_001127180.2:c.5522G>A | NP_001120652.1:p.Arg1841Lys | |
| NM_001369365.1:c.5489G>A | NP_001356294.1:p.Arg1830Lys |