Linked Data
ClinVar Variation Id:
407598
dbSNP Id:
rs540172506
gnomAD v3:
11-108365343-C-A
gnomAD v4:
11-108365343-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108365343C>A , CM000673.2:g.108365343C>A | GRCh38 |
| NC_000011.9:g.108236070C>A , CM000673.1:g.108236070C>A | GRCh37 |
| NC_000011.8:g.107741280C>A | NCBI36 |
| NG_009830.1:g.147512C>A , LRG_135:g.147512C>A | |
| NG_054724.1:g.109490G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.9006C>A (ATM) | ENSP00000388058.2:p.Phe3002Leu | |
| ENST00000713593.1:c.*8477C>A (ATM) | ENSP00000518889.1:n.*8477C>A | |
| ENST00000278616.9:c.9006C>A (ATM) | ENSP00000278616.4:p.Phe3002Leu | |
| ENST00000638786.2:n.1704C>A (ATM) | ||
| ENST00000682286.1:n.3763C>A (ATM) | ||
| ENST00000682302.1:n.3424C>A (ATM) | ||
| ENST00000682569.1:n.2353C>A (ATM) | ||
| ENST00000683174.1:n.10490C>A (ATM) | ||
| ENST00000683524.1:n.4230C>A (ATM) | ||
| ENST00000684152.1:n.4422C>A (ATM) | ||
| ENST00000684180.1:n.1480C>A (ATM) | ||
| ENST00000684447.1:n.5499C>A (ATM) | ||
| ENST00000527805.6:c.*4070C>A (ATM) | ENSP00000435747.2:n.*4070C>A | |
| ENST00000675595.1:c.*4141C>A (ATM) | ENSP00000502563.1:n.*4141C>A | |
| ENST00000675843.1:c.9006C>A (ATM) MANE Select | ENSP00000501606.1:p.Phe3002Leu | |
| ENST00000278616.8:c.9006C>A (ATM) | ENSP00000278616.4:p.Phe3002Leu | |
| ENST00000452508.6:c.9006C>A (ATM) | ENSP00000388058.2:p.Phe3002Leu | |
| ENST00000524755.5:c.226+27865G>T (C11orf65) | ||
| ENST00000524792.5:n.5221C>A (ATM) | ||
| ENST00000525178.5:n.494C>A (ATM) | ||
| ENST00000525729.5:c.640+20577G>T (C11orf65) | ENSP00000433395.1:n.640+20577G>T | |
| ENST00000526725.1:n.272-24979G>T (C11orf65) | ||
| ENST00000527181.1:n.345C>A (ATM) | ||
| ENST00000527531.5:c.*2-9234G>T (C11orf65) | ENSP00000431706.1:n.*2-9234G>T | |
| ENST00000615746.4:c.*2-9234G>T (C11orf65) | ENSP00000483537.1:n.*2-9234G>T | |
| NM_000051.3:c.9006C>A , LRG_135t1:c.9006C>A (ATM) | NP_000042.3:p.Phe3002Leu | |
| XM_005271414.3:c.787+20577G>T (C11orf65) | XP_005271471.1:n.787+20577G>T | |
| XM_005271415.3:c.731+27865G>T (C11orf65) | XP_005271472.1:n.731+27865G>T | |
| XM_005271561.3:c.9006C>A (ATM) | XP_005271618.2:p.Phe3002Leu | |
| XM_005271562.3:c.9006C>A (ATM) | XP_005271619.2:p.Phe3002Leu | |
| XM_006718843.2:c.9006C>A (ATM) | XP_006718906.1:p.Phe3002Leu | |
| XM_006718845.1:c.4962C>A (ATM) | XP_006718908.1:p.Phe1654Leu | |
| XM_011542640.1:c.787+20577G>T (C11orf65) | XP_011540942.1:n.787+20577G>T | |
| XM_011542642.1:c.732-16270G>T (C11orf65) | XP_011540944.1:n.732-16270G>T | |
| XM_011542643.1:c.732-24979G>T (C11orf65) | XP_011540945.1:n.732-24979G>T | |
| XM_011542840.1:c.9006C>A (ATM) | XP_011541142.1:p.Phe3002Leu | |
| XM_011542841.1:c.9006C>A (ATM) | XP_011541143.1:p.Phe3002Leu | |
| XM_011542842.1:c.8841C>A (ATM) | XP_011541144.1:p.Phe2947Leu | |
| XM_011542844.1:c.7962C>A (ATM) | XP_011541146.1:p.Phe2654Leu | |
| XM_011542845.1:c.7698C>A (ATM) | XP_011541147.1:p.Phe2566Leu | |
| XM_011542847.1:c.4077C>A (ATM) | XP_011541149.1:p.Phe1359Leu | |
| NM_001330368.1:c.640+20577G>T (C11orf65) | NP_001317297.1:n.640+20577G>T | |
| NM_001351110.1:c.694+20577G>T (C11orf65) | NP_001338039.1:n.694+20577G>T | |
| NM_001351834.1:c.9006C>A (ATM) | NP_001338763.1:p.Phe3002Leu | |
| NR_147053.2:n.1107-9234G>T (C11orf65) | ||
| XM_005271414.4:c.787+20577G>T (C11orf65) | XP_005271471.1:n.787+20577G>T | |
| XM_005271415.4:c.731+27865G>T (C11orf65) | XP_005271472.1:n.731+27865G>T | |
| XM_005271562.5:c.9006C>A (ATM) | XP_005271619.2:p.Phe3002Leu | |
| XM_006718843.4:c.9006C>A (ATM) | XP_006718906.1:p.Phe3002Leu | |
| XM_006718845.2:c.4962C>A (ATM) | XP_006718908.1:p.Phe1654Leu | |
| XM_011542640.2:c.787+20577G>T (C11orf65) | XP_011540942.1:n.787+20577G>T | |
| XM_011542643.2:c.732-24979G>T (C11orf65) | XP_011540945.1:n.732-24979G>T | |
| XM_011542840.3:c.9006C>A (ATM) | XP_011541142.1:p.Phe3002Leu | |
| XM_011542842.3:c.8841C>A (ATM) | XP_011541144.1:p.Phe2947Leu | |
| XM_011542844.3:c.7962C>A (ATM) | XP_011541146.1:p.Phe2654Leu | |
| XM_011542845.2:c.7698C>A (ATM) | XP_011541147.1:p.Phe2566Leu | |
| XM_017017247.1:c.903+17717G>T (C11orf65) | XP_016872736.1:n.903+17717G>T | |
| XM_017017789.2:c.9006C>A (ATM) | XP_016873278.1:p.Phe3002Leu | |
| XM_017017790.2:c.9006C>A (ATM) | XP_016873279.1:p.Phe3002Leu | |
| NM_001330368.2:c.640+20577G>T (C11orf65) | NP_001317297.1:n.640+20577G>T | |
| NM_001351110.2:c.694+20577G>T (C11orf65) | NP_001338039.1:n.694+20577G>T | |
| NM_001351834.2:c.9006C>A (ATM) | NP_001338763.1:p.Phe3002Leu | |
| NM_000051.4:c.9006C>A (ATM) MANE Select | NP_000042.3:p.Phe3002Leu | |
| NR_147053.3:n.1105-9234G>T (C11orf65) |