Linked Data
ClinVar Variation Id:
187265
dbSNP Id:
rs754395517
ExAC:
11:108202177 G / A
gnomAD v2:
11-108202177-G-A
gnomAD v3:
11-108331450-G-A
gnomAD v4:
11-108331450-G-A
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108331450G>A , CM000673.2:g.108331450G>A | GRCh38 |
| NC_000011.9:g.108202177G>A , CM000673.1:g.108202177G>A | GRCh37 |
| NC_000011.8:g.107707387G>A | NCBI36 |
| NG_009830.1:g.113619G>A , LRG_135:g.113619G>A | |
| NG_054724.1:g.143383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7522G>A (ATM) | ENSP00000388058.2:p.Gly2508Arg | |
| ENST00000713593.1:c.*6993G>A (ATM) | ENSP00000518889.1:n.*6993G>A | |
| ENST00000278616.9:c.7522G>A (ATM) | ENSP00000278616.4:p.Gly2508Arg | |
| ENST00000525056.2:n.1941G>A (ATM) | ||
| ENST00000525537.3:n.479G>A (ATM) | ||
| ENST00000638786.2:n.359G>A (ATM) | ||
| ENST00000682286.1:n.2279G>A (ATM) | ||
| ENST00000682302.1:n.1940G>A (ATM) | ||
| ENST00000683174.1:n.9006G>A (ATM) | ||
| ENST00000683524.1:n.2746G>A (ATM) | ||
| ENST00000684152.1:n.3236G>A (ATM) | ||
| ENST00000684447.1:n.1985G>A (ATM) | ||
| ENST00000527805.6:c.*2586G>A (ATM) | ENSP00000435747.2:n.*2586G>A | |
| ENST00000675595.1:c.*2657G>A (ATM) | ENSP00000502563.1:n.*2657G>A | |
| ENST00000675843.1:c.7522G>A (ATM) MANE Select | ENSP00000501606.1:p.Gly2508Arg | |
| ENST00000278616.8:c.7522G>A (ATM) | ENSP00000278616.4:p.Gly2508Arg | |
| ENST00000452508.6:c.7522G>A (ATM) | ENSP00000388058.2:p.Gly2508Arg | |
| ENST00000524755.5:c.417C>T (C11orf65) | ||
| ENST00000524792.5:n.3737G>A (ATM) | ||
| ENST00000525729.5:c.641-22379C>T (C11orf65) | ENSP00000433395.1:n.641-22379C>T | |
| ENST00000527531.5:c.*1387C>T (C11orf65) | ENSP00000431706.1:n.*1387C>T | |
| ENST00000533690.5:n.2926G>A (ATM) | ||
| ENST00000615746.4:c.*1387C>T (C11orf65) | ENSP00000483537.1:n.*1387C>T | |
| NM_000051.3:c.7522G>A , LRG_135t1:c.7522G>A (ATM) | NP_000042.3:p.Gly2508Arg | |
| XM_005271415.3:c.*100C>T (C11orf65) | XP_005271472.1:n.*100C>T | |
| XM_005271561.3:c.7522G>A (ATM) | XP_005271618.2:p.Gly2508Arg | |
| XM_005271562.3:c.7522G>A (ATM) | XP_005271619.2:p.Gly2508Arg | |
| XM_006718843.2:c.7522G>A (ATM) | XP_006718906.1:p.Gly2508Arg | |
| XM_006718845.1:c.3478G>A (ATM) | XP_006718908.1:p.Gly1160Arg | |
| XM_011542840.1:c.7522G>A (ATM) | XP_011541142.1:p.Gly2508Arg | |
| XM_011542841.1:c.7522G>A (ATM) | XP_011541143.1:p.Gly2508Arg | |
| XM_011542842.1:c.7357G>A (ATM) | XP_011541144.1:p.Gly2453Arg | |
| XM_011542843.1:c.7522G>A (ATM) | XP_011541145.1:p.Gly2508Arg | |
| XM_011542844.1:c.6478G>A (ATM) | XP_011541146.1:p.Gly2160Arg | |
| XM_011542845.1:c.6214G>A (ATM) | XP_011541147.1:p.Gly2072Arg | |
| XM_011542847.1:c.2593G>A (ATM) | XP_011541149.1:p.Gly865Arg | |
| NM_001330368.1:c.641-22379C>T (C11orf65) | NP_001317297.1:n.641-22379C>T | |
| NM_001351110.1:c.*38+3770C>T (C11orf65) | NP_001338039.1:n.*38+3770C>T | |
| NM_001351834.1:c.7522G>A (ATM) | NP_001338763.1:p.Gly2508Arg | |
| NR_147053.2:n.2492C>T (C11orf65) | ||
| XM_005271414.4:c.*156C>T (C11orf65) | XP_005271471.1:n.*156C>T | |
| XM_005271415.4:c.*100C>T (C11orf65) | XP_005271472.1:n.*100C>T | |
| XM_005271562.5:c.7522G>A (ATM) | XP_005271619.2:p.Gly2508Arg | |
| XM_006718843.4:c.7522G>A (ATM) | XP_006718906.1:p.Gly2508Arg | |
| XM_006718845.2:c.3478G>A (ATM) | XP_006718908.1:p.Gly1160Arg | |
| XM_011542840.3:c.7522G>A (ATM) | XP_011541142.1:p.Gly2508Arg | |
| XM_011542842.3:c.7357G>A (ATM) | XP_011541144.1:p.Gly2453Arg | |
| XM_011542843.2:c.7522G>A (ATM) | XP_011541145.1:p.Gly2508Arg | |
| XM_011542844.3:c.6478G>A (ATM) | XP_011541146.1:p.Gly2160Arg | |
| XM_011542845.2:c.6214G>A (ATM) | XP_011541147.1:p.Gly2072Arg | |
| XM_017017789.2:c.7522G>A (ATM) | XP_016873278.1:p.Gly2508Arg | |
| XM_017017790.2:c.7522G>A (ATM) | XP_016873279.1:p.Gly2508Arg | |
| NM_001330368.2:c.641-22379C>T (C11orf65) | NP_001317297.1:n.641-22379C>T | |
| NM_001351110.2:c.*38+3770C>T (C11orf65) | NP_001338039.1:n.*38+3770C>T | |
| NM_001351834.2:c.7522G>A (ATM) | NP_001338763.1:p.Gly2508Arg | |
| NM_000051.4:c.7522G>A (ATM) MANE Select | NP_000042.3:p.Gly2508Arg | |
| NR_147053.3:n.2490C>T (C11orf65) |