Linked Data
ClinVar Variation Id:
127413
ClinVar RCV Id:
RCV000115218
RCV000195828
RCV000763707
RCV000589184
RCV001799619
RCV001263508
RCV003237337
dbSNP Id:
rs56399311
ExAC:
11:108181006 A / G
gnomAD v2:
11-108181006-A-G
gnomAD v3:
11-108310279-A-G
gnomAD v4:
11-108310279-A-G
COSMIC:
COSM21938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108310279A>G , CM000673.2:g.108310279A>G | GRCh38 |
| NC_000011.9:g.108181006A>G , CM000673.1:g.108181006A>G | GRCh37 |
| NC_000011.8:g.107686216A>G | NCBI36 |
| NG_009830.1:g.92448A>G , LRG_135:g.92448A>G | |
| NG_054724.1:g.164554T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5882A>G (ATM) | ENSP00000388058.2:p.Tyr1961Cys | |
| ENST00000713593.1:c.*5353A>G (ATM) | ENSP00000518889.1:n.*5353A>G | |
| ENST00000278616.9:c.5882A>G (ATM) | ENSP00000278616.4:p.Tyr1961Cys | |
| ENST00000525056.2:n.301A>G (ATM) | ||
| ENST00000682286.1:n.639A>G (ATM) | ||
| ENST00000682302.1:n.300A>G (ATM) | ||
| ENST00000683174.1:n.7366A>G (ATM) | ||
| ENST00000683524.1:n.1106A>G (ATM) | ||
| ENST00000684152.1:n.1596A>G (ATM) | ||
| ENST00000527805.6:c.*946A>G (ATM) | ENSP00000435747.2:n.*946A>G | |
| ENST00000675595.1:c.*946A>G (ATM) | ENSP00000502563.1:n.*946A>G | |
| ENST00000675843.1:c.5882A>G (ATM) MANE Select | ENSP00000501606.1:p.Tyr1961Cys | |
| ENST00000278616.8:c.5882A>G (ATM) | ENSP00000278616.4:p.Tyr1961Cys | |
| ENST00000452508.6:c.5882A>G (ATM) | ENSP00000388058.2:p.Tyr1961Cys | |
| ENST00000524792.5:n.2097A>G (ATM) | ||
| ENST00000525729.5:c.641-1208T>C (C11orf65) | ENSP00000433395.1:n.641-1208T>C | |
| ENST00000529588.5:c.306A>G (ATM) | ||
| ENST00000532765.1:n.199A>G (ATM) | ||
| ENST00000533690.5:n.1286A>G (ATM) | ||
| NM_000051.3:c.5882A>G , LRG_135t1:c.5882A>G (ATM) | NP_000042.3:p.Tyr1961Cys | |
| XM_005271561.3:c.5882A>G (ATM) | XP_005271618.2:p.Tyr1961Cys | |
| XM_005271562.3:c.5882A>G (ATM) | XP_005271619.2:p.Tyr1961Cys | |
| XM_006718843.2:c.5882A>G (ATM) | XP_006718906.1:p.Tyr1961Cys | |
| XM_006718845.1:c.1838A>G (ATM) | XP_006718908.1:p.Tyr613Cys | |
| XM_011542840.1:c.5882A>G (ATM) | XP_011541142.1:p.Tyr1961Cys | |
| XM_011542841.1:c.5882A>G (ATM) | XP_011541143.1:p.Tyr1961Cys | |
| XM_011542842.1:c.5717A>G (ATM) | XP_011541144.1:p.Tyr1906Cys | |
| XM_011542843.1:c.5882A>G (ATM) | XP_011541145.1:p.Tyr1961Cys | |
| XM_011542844.1:c.4838A>G (ATM) | XP_011541146.1:p.Tyr1613Cys | |
| XM_011542845.1:c.4574A>G (ATM) | XP_011541147.1:p.Tyr1525Cys | |
| XM_011542847.1:c.953A>G (ATM) | XP_011541149.1:p.Tyr318Cys | |
| NM_001330368.1:c.641-1208T>C (C11orf65) | NP_001317297.1:n.641-1208T>C | |
| NM_001351110.1:c.*39-1208T>C (C11orf65) | NP_001338039.1:n.*39-1208T>C | |
| NM_001351834.1:c.5882A>G (ATM) | NP_001338763.1:p.Tyr1961Cys | |
| XM_005271562.5:c.5882A>G (ATM) | XP_005271619.2:p.Tyr1961Cys | |
| XM_006718843.4:c.5882A>G (ATM) | XP_006718906.1:p.Tyr1961Cys | |
| XM_006718845.2:c.1838A>G (ATM) | XP_006718908.1:p.Tyr613Cys | |
| XM_011542840.3:c.5882A>G (ATM) | XP_011541142.1:p.Tyr1961Cys | |
| XM_011542842.3:c.5717A>G (ATM) | XP_011541144.1:p.Tyr1906Cys | |
| XM_011542843.2:c.5882A>G (ATM) | XP_011541145.1:p.Tyr1961Cys | |
| XM_011542844.3:c.4838A>G (ATM) | XP_011541146.1:p.Tyr1613Cys | |
| XM_011542845.2:c.4574A>G (ATM) | XP_011541147.1:p.Tyr1525Cys | |
| XM_017017789.2:c.5882A>G (ATM) | XP_016873278.1:p.Tyr1961Cys | |
| XM_017017790.2:c.5882A>G (ATM) | XP_016873279.1:p.Tyr1961Cys | |
| XM_017017791.1:c.5882A>G (ATM) | XP_016873280.1:p.Tyr1961Cys | |
| XR_002957150.1:n.6482A>G (ATM) | ||
| NM_001330368.2:c.641-1208T>C (C11orf65) | NP_001317297.1:n.641-1208T>C | |
| NM_001351110.2:c.*39-1208T>C (C11orf65) | NP_001338039.1:n.*39-1208T>C | |
| NM_001351834.2:c.5882A>G (ATM) | NP_001338763.1:p.Tyr1961Cys | |
| NM_000051.4:c.5882A>G (ATM) MANE Select | NP_000042.3:p.Tyr1961Cys |