Linked Data
ClinVar Variation Id:
2162281
dbSNP Id:
rs767670019
gnomAD v2:
11-108203580-A-C
gnomAD v4:
11-108332853-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332853A>C , CM000673.2:g.108332853A>C | GRCh38 |
| NC_000011.9:g.108203580A>C , CM000673.1:g.108203580A>C | GRCh37 |
| NC_000011.8:g.107708790A>C | NCBI36 |
| NG_009830.1:g.115022A>C , LRG_135:g.115022A>C | |
| NG_054724.1:g.141980T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7880A>C (ATM) | ENSP00000388058.2:p.Tyr2627Ser | |
| ENST00000713593.1:c.*7351A>C (ATM) | ENSP00000518889.1:n.*7351A>C | |
| ENST00000278616.9:c.7880A>C (ATM) | ENSP00000278616.4:p.Tyr2627Ser | |
| ENST00000525056.2:n.2299A>C (ATM) | ||
| ENST00000525537.3:n.1561A>C (ATM) | ||
| ENST00000638786.2:n.625+816A>C (ATM) | ||
| ENST00000682286.1:n.2637A>C (ATM) | ||
| ENST00000682302.1:n.2298A>C (ATM) | ||
| ENST00000683174.1:n.9364A>C (ATM) | ||
| ENST00000683524.1:n.3104A>C (ATM) | ||
| ENST00000684152.1:n.3344-1033A>C (ATM) | ||
| ENST00000684180.1:n.354A>C (ATM) | ||
| ENST00000684447.1:n.3388A>C (ATM) | ||
| ENST00000527805.6:c.*2944A>C (ATM) | ENSP00000435747.2:n.*2944A>C | |
| ENST00000675595.1:c.*3015A>C (ATM) | ENSP00000502563.1:n.*3015A>C | |
| ENST00000675843.1:c.7880A>C (ATM) MANE Select | ENSP00000501606.1:p.Tyr2627Ser | |
| ENST00000278616.8:c.7880A>C (ATM) | ENSP00000278616.4:p.Tyr2627Ser | |
| ENST00000452508.6:c.7880A>C (ATM) | ENSP00000388058.2:p.Tyr2627Ser | |
| ENST00000524755.5:c.300-1286T>G (C11orf65) | ||
| ENST00000524792.5:n.4095A>C (ATM) | ||
| ENST00000525056.1:n.77A>C (ATM) | ||
| ENST00000525729.5:c.641-23782T>G (C11orf65) | ENSP00000433395.1:n.641-23782T>G | |
| ENST00000527531.5:c.*1270-1286T>G (C11orf65) | ENSP00000431706.1:n.*1270-1286T>G | |
| ENST00000533690.5:n.3284A>C (ATM) | ||
| ENST00000533979.5:n.92A>C (ATM) | ||
| ENST00000615746.4:c.*1270-1286T>G (C11orf65) | ENSP00000483537.1:n.*1270-1286T>G | |
| NM_000051.3:c.7880A>C , LRG_135t1:c.7880A>C (ATM) | NP_000042.3:p.Tyr2627Ser | |
| XM_005271414.3:c.*39-1286T>G (C11orf65) | XP_005271471.1:n.*39-1286T>G | |
| XM_005271415.3:c.805-1286T>G (C11orf65) | XP_005271472.1:n.805-1286T>G | |
| XM_005271561.3:c.7880A>C (ATM) | XP_005271618.2:p.Tyr2627Ser | |
| XM_005271562.3:c.7880A>C (ATM) | XP_005271619.2:p.Tyr2627Ser | |
| XM_006718843.2:c.7880A>C (ATM) | XP_006718906.1:p.Tyr2627Ser | |
| XM_006718845.1:c.3836A>C (ATM) | XP_006718908.1:p.Tyr1279Ser | |
| XM_011542840.1:c.7880A>C (ATM) | XP_011541142.1:p.Tyr2627Ser | |
| XM_011542841.1:c.7880A>C (ATM) | XP_011541143.1:p.Tyr2627Ser | |
| XM_011542842.1:c.7715A>C (ATM) | XP_011541144.1:p.Tyr2572Ser | |
| XM_011542843.1:c.7880A>C (ATM) | XP_011541145.1:p.Tyr2627Ser | |
| XM_011542844.1:c.6836A>C (ATM) | XP_011541146.1:p.Tyr2279Ser | |
| XM_011542845.1:c.6572A>C (ATM) | XP_011541147.1:p.Tyr2191Ser | |
| XM_011542847.1:c.2951A>C (ATM) | XP_011541149.1:p.Tyr984Ser | |
| NM_001330368.1:c.641-23782T>G (C11orf65) | NP_001317297.1:n.641-23782T>G | |
| NM_001351110.1:c.*38+2367T>G (C11orf65) | NP_001338039.1:n.*38+2367T>G | |
| NM_001351834.1:c.7880A>C (ATM) | NP_001338763.1:p.Tyr2627Ser | |
| NR_147053.2:n.2375-1286T>G (C11orf65) | ||
| XM_005271414.4:c.*39-1286T>G (C11orf65) | XP_005271471.1:n.*39-1286T>G | |
| XM_005271415.4:c.805-1286T>G (C11orf65) | XP_005271472.1:n.805-1286T>G | |
| XM_005271562.5:c.7880A>C (ATM) | XP_005271619.2:p.Tyr2627Ser | |
| XM_006718843.4:c.7880A>C (ATM) | XP_006718906.1:p.Tyr2627Ser | |
| XM_006718845.2:c.3836A>C (ATM) | XP_006718908.1:p.Tyr1279Ser | |
| XM_011542840.3:c.7880A>C (ATM) | XP_011541142.1:p.Tyr2627Ser | |
| XM_011542842.3:c.7715A>C (ATM) | XP_011541144.1:p.Tyr2572Ser | |
| XM_011542843.2:c.7880A>C (ATM) | XP_011541145.1:p.Tyr2627Ser | |
| XM_011542844.3:c.6836A>C (ATM) | XP_011541146.1:p.Tyr2279Ser | |
| XM_011542845.2:c.6572A>C (ATM) | XP_011541147.1:p.Tyr2191Ser | |
| XM_017017789.2:c.7880A>C (ATM) | XP_016873278.1:p.Tyr2627Ser | |
| XM_017017790.2:c.7880A>C (ATM) | XP_016873279.1:p.Tyr2627Ser | |
| NM_001330368.2:c.641-23782T>G (C11orf65) | NP_001317297.1:n.641-23782T>G | |
| NM_001351110.2:c.*38+2367T>G (C11orf65) | NP_001338039.1:n.*38+2367T>G | |
| NM_001351834.2:c.7880A>C (ATM) | NP_001338763.1:p.Tyr2627Ser | |
| NM_000051.4:c.7880A>C (ATM) MANE Select | NP_000042.3:p.Tyr2627Ser | |
| NR_147053.3:n.2373-1286T>G (C11orf65) |