ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000278616
0.853
ENST00000452508
0.853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108333925T>C , CM000673.2:g.108333925T>C | GRCh38 |
| NC_000011.9:g.108204652T>C , CM000673.1:g.108204652T>C | GRCh37 |
| NC_000011.8:g.107709862T>C | NCBI36 |
| NG_009830.1:g.116094T>C , LRG_135:g.116094T>C | |
| NG_054724.1:g.140908A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7967T>C (ATM) | ENSP00000388058.2:p.Leu2656Pro | |
| ENST00000713593.1:c.*7438T>C (ATM) | ENSP00000518889.1:n.*7438T>C | |
| ENST00000278616.9:c.7967T>C (ATM) | ENSP00000278616.4:p.Leu2656Pro | |
| ENST00000525056.2:n.2386T>C (ATM) | ||
| ENST00000638786.2:n.665T>C (ATM) | ||
| ENST00000682286.1:n.2724T>C (ATM) | ||
| ENST00000682302.1:n.2385T>C (ATM) | ||
| ENST00000683174.1:n.9451T>C (ATM) | ||
| ENST00000683524.1:n.3191T>C (ATM) | ||
| ENST00000684152.1:n.3383T>C (ATM) | ||
| ENST00000684180.1:n.441T>C (ATM) | ||
| ENST00000684447.1:n.4460T>C (ATM) | ||
| ENST00000527805.6:c.*3031T>C (ATM) | ENSP00000435747.2:n.*3031T>C | |
| ENST00000675595.1:c.*3102T>C (ATM) | ENSP00000502563.1:n.*3102T>C | |
| ENST00000675843.1:c.7967T>C (ATM) MANE Select | ENSP00000501606.1:p.Leu2656Pro | |
| ENST00000278616.8:c.7967T>C (ATM) | ENSP00000278616.4:p.Leu2656Pro | |
| ENST00000452508.6:c.7967T>C (ATM) | ENSP00000388058.2:p.Leu2656Pro | |
| ENST00000524755.5:c.299+1295A>G (C11orf65) | ||
| ENST00000524792.5:n.4182T>C (ATM) | ||
| ENST00000525056.1:n.164T>C (ATM) | ||
| ENST00000525729.5:c.641-24854A>G (C11orf65) | ENSP00000433395.1:n.641-24854A>G | |
| ENST00000527531.5:c.*1269+1295A>G (C11orf65) | ENSP00000431706.1:n.*1269+1295A>G | |
| ENST00000533979.5:n.179T>C (ATM) | ||
| ENST00000615746.4:c.*1269+1295A>G (C11orf65) | ENSP00000483537.1:n.*1269+1295A>G | |
| NM_000051.3:c.7967T>C , LRG_135t1:c.7967T>C (ATM) | NP_000042.3:p.Leu2656Pro | |
| XM_005271414.3:c.*38+1295A>G (C11orf65) | XP_005271471.1:n.*38+1295A>G | |
| XM_005271415.3:c.804+1295A>G (C11orf65) | XP_005271472.1:n.804+1295A>G | |
| XM_005271561.3:c.7967T>C (ATM) | XP_005271618.2:p.Leu2656Pro | |
| XM_005271562.3:c.7967T>C (ATM) | XP_005271619.2:p.Leu2656Pro | |
| XM_006718843.2:c.7967T>C (ATM) | XP_006718906.1:p.Leu2656Pro | |
| XM_006718845.1:c.3923T>C (ATM) | XP_006718908.1:p.Leu1308Pro | |
| XM_011542840.1:c.7967T>C (ATM) | XP_011541142.1:p.Leu2656Pro | |
| XM_011542841.1:c.7967T>C (ATM) | XP_011541143.1:p.Leu2656Pro | |
| XM_011542842.1:c.7802T>C (ATM) | XP_011541144.1:p.Leu2601Pro | |
| XM_011542843.1:c.7967T>C (ATM) | XP_011541145.1:p.Leu2656Pro | |
| XM_011542844.1:c.6923T>C (ATM) | XP_011541146.1:p.Leu2308Pro | |
| XM_011542845.1:c.6659T>C (ATM) | XP_011541147.1:p.Leu2220Pro | |
| XM_011542847.1:c.3038T>C (ATM) | XP_011541149.1:p.Leu1013Pro | |
| NM_001330368.1:c.641-24854A>G (C11orf65) | NP_001317297.1:n.641-24854A>G | |
| NM_001351110.1:c.*38+1295A>G (C11orf65) | NP_001338039.1:n.*38+1295A>G | |
| NM_001351834.1:c.7967T>C (ATM) | NP_001338763.1:p.Leu2656Pro | |
| NR_147053.2:n.2374+1295A>G (C11orf65) | ||
| XM_005271414.4:c.*38+1295A>G (C11orf65) | XP_005271471.1:n.*38+1295A>G | |
| XM_005271415.4:c.804+1295A>G (C11orf65) | XP_005271472.1:n.804+1295A>G | |
| XM_005271562.5:c.7967T>C (ATM) | XP_005271619.2:p.Leu2656Pro | |
| XM_006718843.4:c.7967T>C (ATM) | XP_006718906.1:p.Leu2656Pro | |
| XM_006718845.2:c.3923T>C (ATM) | XP_006718908.1:p.Leu1308Pro | |
| XM_011542840.3:c.7967T>C (ATM) | XP_011541142.1:p.Leu2656Pro | |
| XM_011542842.3:c.7802T>C (ATM) | XP_011541144.1:p.Leu2601Pro | |
| XM_011542843.2:c.7967T>C (ATM) | XP_011541145.1:p.Leu2656Pro | |
| XM_011542844.3:c.6923T>C (ATM) | XP_011541146.1:p.Leu2308Pro | |
| XM_011542845.2:c.6659T>C (ATM) | XP_011541147.1:p.Leu2220Pro | |
| XM_017017789.2:c.7967T>C (ATM) | XP_016873278.1:p.Leu2656Pro | |
| XM_017017790.2:c.7967T>C (ATM) | XP_016873279.1:p.Leu2656Pro | |
| NM_001330368.2:c.641-24854A>G (C11orf65) | NP_001317297.1:n.641-24854A>G | |
| NM_001351110.2:c.*38+1295A>G (C11orf65) | NP_001338039.1:n.*38+1295A>G | |
| NM_001351834.2:c.7967T>C (ATM) | NP_001338763.1:p.Leu2656Pro | |
| NM_000051.4:c.7967T>C (ATM) MANE Select | NP_000042.3:p.Leu2656Pro | |
| NR_147053.3:n.2372+1295A>G (C11orf65) |