Linked Data
ClinVar Variation Id:
231834
dbSNP Id:
rs876659392
gnomAD v2:
11-108199814-G-C
gnomAD v3:
11-108329087-G-C
gnomAD v4:
11-108329087-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108329087G>C , CM000673.2:g.108329087G>C | GRCh38 |
| NC_000011.9:g.108199814G>C , CM000673.1:g.108199814G>C | GRCh37 |
| NC_000011.8:g.107705024G>C | NCBI36 |
| NG_009830.1:g.111256G>C , LRG_135:g.111256G>C | |
| NG_054724.1:g.145746C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7156G>C (ATM) | ENSP00000388058.2:p.Ala2386Pro | |
| ENST00000713593.1:c.*6627G>C (ATM) | ENSP00000518889.1:n.*6627G>C | |
| ENST00000278616.9:c.7156G>C (ATM) | ENSP00000278616.4:p.Ala2386Pro | |
| ENST00000525056.2:n.1575G>C (ATM) | ||
| ENST00000525537.3:n.113G>C (ATM) | ||
| ENST00000682286.1:n.1913G>C (ATM) | ||
| ENST00000682302.1:n.1574G>C (ATM) | ||
| ENST00000683174.1:n.8640G>C (ATM) | ||
| ENST00000683524.1:n.2380G>C (ATM) | ||
| ENST00000684152.1:n.2870G>C (ATM) | ||
| ENST00000684447.1:n.1619G>C (ATM) | ||
| ENST00000527805.6:c.*2220G>C (ATM) | ENSP00000435747.2:n.*2220G>C | |
| ENST00000675595.1:c.*2291G>C (ATM) | ENSP00000502563.1:n.*2291G>C | |
| ENST00000675843.1:c.7156G>C (ATM) MANE Select | ENSP00000501606.1:p.Ala2386Pro | |
| ENST00000278616.8:c.7156G>C (ATM) | ENSP00000278616.4:p.Ala2386Pro | |
| ENST00000452508.6:c.7156G>C (ATM) | ENSP00000388058.2:p.Ala2386Pro | |
| ENST00000524792.5:n.3371G>C (ATM) | ||
| ENST00000525537.2:n.432G>C (ATM) | ||
| ENST00000525729.5:c.641-20016C>G (C11orf65) | ENSP00000433395.1:n.641-20016C>G | |
| ENST00000527389.2:n.181G>C (ATM) | ||
| ENST00000533690.5:n.2560G>C (ATM) | ||
| NM_000051.3:c.7156G>C , LRG_135t1:c.7156G>C (ATM) | NP_000042.3:p.Ala2386Pro | |
| XM_005271561.3:c.7156G>C (ATM) | XP_005271618.2:p.Ala2386Pro | |
| XM_005271562.3:c.7156G>C (ATM) | XP_005271619.2:p.Ala2386Pro | |
| XM_006718843.2:c.7156G>C (ATM) | XP_006718906.1:p.Ala2386Pro | |
| XM_006718845.1:c.3112G>C (ATM) | XP_006718908.1:p.Ala1038Pro | |
| XM_011542840.1:c.7156G>C (ATM) | XP_011541142.1:p.Ala2386Pro | |
| XM_011542841.1:c.7156G>C (ATM) | XP_011541143.1:p.Ala2386Pro | |
| XM_011542842.1:c.6991G>C (ATM) | XP_011541144.1:p.Ala2331Pro | |
| XM_011542843.1:c.7156G>C (ATM) | XP_011541145.1:p.Ala2386Pro | |
| XM_011542844.1:c.6112G>C (ATM) | XP_011541146.1:p.Ala2038Pro | |
| XM_011542845.1:c.5848G>C (ATM) | XP_011541147.1:p.Ala1950Pro | |
| XM_011542847.1:c.2227G>C (ATM) | XP_011541149.1:p.Ala743Pro | |
| NM_001330368.1:c.641-20016C>G (C11orf65) | NP_001317297.1:n.641-20016C>G | |
| NM_001351110.1:c.*38+6133C>G (C11orf65) | NP_001338039.1:n.*38+6133C>G | |
| NM_001351834.1:c.7156G>C (ATM) | NP_001338763.1:p.Ala2386Pro | |
| XM_005271562.5:c.7156G>C (ATM) | XP_005271619.2:p.Ala2386Pro | |
| XM_006718843.4:c.7156G>C (ATM) | XP_006718906.1:p.Ala2386Pro | |
| XM_006718845.2:c.3112G>C (ATM) | XP_006718908.1:p.Ala1038Pro | |
| XM_011542840.3:c.7156G>C (ATM) | XP_011541142.1:p.Ala2386Pro | |
| XM_011542842.3:c.6991G>C (ATM) | XP_011541144.1:p.Ala2331Pro | |
| XM_011542843.2:c.7156G>C (ATM) | XP_011541145.1:p.Ala2386Pro | |
| XM_011542844.3:c.6112G>C (ATM) | XP_011541146.1:p.Ala2038Pro | |
| XM_011542845.2:c.5848G>C (ATM) | XP_011541147.1:p.Ala1950Pro | |
| XM_017017789.2:c.7156G>C (ATM) | XP_016873278.1:p.Ala2386Pro | |
| XM_017017790.2:c.7156G>C (ATM) | XP_016873279.1:p.Ala2386Pro | |
| NM_001330368.2:c.641-20016C>G (C11orf65) | NP_001317297.1:n.641-20016C>G | |
| NM_001351110.2:c.*38+6133C>G (C11orf65) | NP_001338039.1:n.*38+6133C>G | |
| NM_001351834.2:c.7156G>C (ATM) | NP_001338763.1:p.Ala2386Pro | |
| NM_000051.4:c.7156G>C (ATM) MANE Select | NP_000042.3:p.Ala2386Pro |