Linked Data
ClinVar Variation Id:
3039
ClinVar RCV Id:
RCV000003180
dbSNP Id:
rs121434221
COSMIC:
COSM21630
PubMed:
PMID:10706620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108329199A>G , CM000673.2:g.108329199A>G | GRCh38 |
| NC_000011.9:g.108199926A>G , CM000673.1:g.108199926A>G | GRCh37 |
| NC_000011.8:g.107705136A>G | NCBI36 |
| NG_009830.1:g.111368A>G , LRG_135:g.111368A>G | |
| NG_054724.1:g.145634T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7268A>G (ATM) | ENSP00000388058.2:p.Glu2423Gly | |
| ENST00000713593.1:c.*6739A>G (ATM) | ENSP00000518889.1:n.*6739A>G | |
| ENST00000278616.9:c.7268A>G (ATM) | ENSP00000278616.4:p.Glu2423Gly | |
| ENST00000525056.2:n.1687A>G (ATM) | ||
| ENST00000525537.3:n.225A>G (ATM) | ||
| ENST00000638786.2:n.105A>G (ATM) | ||
| ENST00000682286.1:n.2025A>G (ATM) | ||
| ENST00000682302.1:n.1686A>G (ATM) | ||
| ENST00000683174.1:n.8752A>G (ATM) | ||
| ENST00000683524.1:n.2492A>G (ATM) | ||
| ENST00000684152.1:n.2982A>G (ATM) | ||
| ENST00000684447.1:n.1731A>G (ATM) | ||
| ENST00000527805.6:c.*2332A>G (ATM) | ENSP00000435747.2:n.*2332A>G | |
| ENST00000675595.1:c.*2403A>G (ATM) | ENSP00000502563.1:n.*2403A>G | |
| ENST00000675843.1:c.7268A>G (ATM) MANE Select | ENSP00000501606.1:p.Glu2423Gly | |
| ENST00000278616.8:c.7268A>G (ATM) | ENSP00000278616.4:p.Glu2423Gly | |
| ENST00000452508.6:c.7268A>G (ATM) | ENSP00000388058.2:p.Glu2423Gly | |
| ENST00000524792.5:n.3483A>G (ATM) | ||
| ENST00000525537.2:n.544A>G (ATM) | ||
| ENST00000525729.5:c.641-20128T>C (C11orf65) | ENSP00000433395.1:n.641-20128T>C | |
| ENST00000527389.2:n.293A>G (ATM) | ||
| ENST00000533690.5:n.2672A>G (ATM) | ||
| NM_000051.3:c.7268A>G , LRG_135t1:c.7268A>G (ATM) | NP_000042.3:p.Glu2423Gly | |
| XM_005271561.3:c.7268A>G (ATM) | XP_005271618.2:p.Glu2423Gly | |
| XM_005271562.3:c.7268A>G (ATM) | XP_005271619.2:p.Glu2423Gly | |
| XM_006718843.2:c.7268A>G (ATM) | XP_006718906.1:p.Glu2423Gly | |
| XM_006718845.1:c.3224A>G (ATM) | XP_006718908.1:p.Glu1075Gly | |
| XM_011542840.1:c.7268A>G (ATM) | XP_011541142.1:p.Glu2423Gly | |
| XM_011542841.1:c.7268A>G (ATM) | XP_011541143.1:p.Glu2423Gly | |
| XM_011542842.1:c.7103A>G (ATM) | XP_011541144.1:p.Glu2368Gly | |
| XM_011542843.1:c.7268A>G (ATM) | XP_011541145.1:p.Glu2423Gly | |
| XM_011542844.1:c.6224A>G (ATM) | XP_011541146.1:p.Glu2075Gly | |
| XM_011542845.1:c.5960A>G (ATM) | XP_011541147.1:p.Glu1987Gly | |
| XM_011542847.1:c.2339A>G (ATM) | XP_011541149.1:p.Glu780Gly | |
| NM_001330368.1:c.641-20128T>C (C11orf65) | NP_001317297.1:n.641-20128T>C | |
| NM_001351110.1:c.*38+6021T>C (C11orf65) | NP_001338039.1:n.*38+6021T>C | |
| NM_001351834.1:c.7268A>G (ATM) | NP_001338763.1:p.Glu2423Gly | |
| XM_005271562.5:c.7268A>G (ATM) | XP_005271619.2:p.Glu2423Gly | |
| XM_006718843.4:c.7268A>G (ATM) | XP_006718906.1:p.Glu2423Gly | |
| XM_006718845.2:c.3224A>G (ATM) | XP_006718908.1:p.Glu1075Gly | |
| XM_011542840.3:c.7268A>G (ATM) | XP_011541142.1:p.Glu2423Gly | |
| XM_011542842.3:c.7103A>G (ATM) | XP_011541144.1:p.Glu2368Gly | |
| XM_011542843.2:c.7268A>G (ATM) | XP_011541145.1:p.Glu2423Gly | |
| XM_011542844.3:c.6224A>G (ATM) | XP_011541146.1:p.Glu2075Gly | |
| XM_011542845.2:c.5960A>G (ATM) | XP_011541147.1:p.Glu1987Gly | |
| XM_017017789.2:c.7268A>G (ATM) | XP_016873278.1:p.Glu2423Gly | |
| XM_017017790.2:c.7268A>G (ATM) | XP_016873279.1:p.Glu2423Gly | |
| NM_001330368.2:c.641-20128T>C (C11orf65) | NP_001317297.1:n.641-20128T>C | |
| NM_001351110.2:c.*38+6021T>C (C11orf65) | NP_001338039.1:n.*38+6021T>C | |
| NM_001351834.2:c.7268A>G (ATM) | NP_001338763.1:p.Glu2423Gly | |
| NM_000051.4:c.7268A>G (ATM) MANE Select | NP_000042.3:p.Glu2423Gly |