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)
0.923
ENST00000458637
0.923
ENST00000409619
0.923
ENST00000545136
0.923
ENST00000358342
0.923
ENST00000343356
0.923
ENST00000341717
0.923
ENST00000458169
0.923
ENST00000544424
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77205542T>G , CM000673.2:g.77205542T>G | GRCh38 |
| NC_000011.9:g.76916587T>G , CM000673.1:g.76916587T>G | GRCh37 |
| NC_000011.8:g.76594235T>G | NCBI36 |
| NG_009086.1:g.82278T>G | |
| NG_009086.2:g.82297T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5561T>G MANE Select | ENSP00000386331.3:p.Val1854Gly | |
| ENST00000670577.1:c.3388T>G | ||
| ENST00000409619.6:c.5414T>G | ENSP00000386635.2:p.Val1805Gly | |
| ENST00000409709.7:c.5561T>G | ENSP00000386331.3:p.Val1854Gly | |
| ENST00000458169.2:c.2987T>G | ENSP00000417017.2:p.Val996Gly | |
| ENST00000458637.6:c.5447T>G | ENSP00000392185.2:p.Val1816Gly | |
| ENST00000481328.7:n.3097T>G | ||
| ENST00000605744.1:n.187-5T>G | ||
| NM_000260.3:c.5561T>G | NP_000251.3:p.Val1854Gly | |
| NM_001127180.1:c.5447T>G | NP_001120652.1:p.Val1816Gly | |
| XM_005274012.2:c.5444T>G | XP_005274069.1:p.Val1815Gly | |
| XM_006718558.2:c.5552T>G | XP_006718621.1:p.Val1851Gly | |
| XM_006718559.2:c.5447T>G | XP_006718622.1:p.Val1816Gly | |
| XM_006718560.2:c.5444T>G | XP_006718623.1:p.Val1815Gly | |
| XM_006718561.2:c.5447T>G | XP_006718624.1:p.Val1816Gly | |
| XM_011545044.1:c.5561T>G | XP_011543346.1:p.Val1854Gly | |
| XM_011545045.1:c.5555T>G | XP_011543347.1:p.Val1852Gly | |
| XM_011545046.1:c.5528T>G | XP_011543348.1:p.Val1843Gly | |
| XM_011545047.1:c.5465T>G | XP_011543349.1:p.Val1822Gly | |
| XM_011545048.1:c.5336T>G | XP_011543350.1:p.Val1779Gly | |
| XM_011545049.1:c.5324T>G | XP_011543351.1:p.Val1775Gly | |
| XM_011545050.1:c.5297T>G | XP_011543352.1:p.Val1766Gly | |
| XM_011545051.1:c.5561T>G | XP_011543353.1:p.Val1854Gly | |
| XM_011545052.1:c.5481-5T>G | XP_011543354.1:n.5481-5T>G | |
| XR_949938.1:n.5881T>G | ||
| XR_949941.1:n.5881T>G | ||
| XR_949942.1:n.5789-5T>G | ||
| XM_011545044.2:c.5561T>G | XP_011543346.1:p.Val1854Gly | |
| XM_011545046.2:c.5651T>G | XP_011543348.2:p.Val1884Gly | |
| XM_011545050.2:c.5297T>G | XP_011543352.1:p.Val1766Gly | |
| XM_017017778.1:c.5645T>G | XP_016873267.1:p.Val1882Gly | |
| XM_017017779.1:c.5642T>G | XP_016873268.1:p.Val1881Gly | |
| XM_017017780.1:c.5651T>G | XP_016873269.1:p.Val1884Gly | |
| XM_017017781.1:c.5555T>G | XP_016873270.1:p.Val1852Gly | |
| XM_017017782.1:c.5537T>G | XP_016873271.1:p.Val1846Gly | |
| XM_017017783.1:c.5534T>G | XP_016873272.1:p.Val1845Gly | |
| XM_017017784.1:c.5534T>G | XP_016873273.1:p.Val1845Gly | |
| XM_017017785.1:c.5414T>G | XP_016873274.1:p.Val1805Gly | |
| XM_017017786.1:c.5651T>G | XP_016873275.1:p.Val1884Gly | |
| XM_017017788.1:c.5537T>G | XP_016873277.1:p.Val1846Gly | |
| XR_001747885.1:n.5666T>G | ||
| XR_001747886.1:n.5586-5T>G | ||
| XR_001747887.1:n.5652T>G | ||
| XR_001747888.1:n.5572-5T>G | ||
| NM_000260.4:c.5561T>G MANE Select | NP_000251.3:p.Val1854Gly | |
| NM_001127180.2:c.5447T>G | NP_001120652.1:p.Val1816Gly | |
| NM_001369365.1:c.5414T>G | NP_001356294.1:p.Val1805Gly |