Linked Data
ClinVar Variation Id:
127449
dbSNP Id:
rs587779867
ExAC:
11:108202754 A / G
gnomAD v2:
11-108202754-A-G
gnomAD v3:
11-108332027-A-G
gnomAD v4:
11-108332027-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332027A>G , CM000673.2:g.108332027A>G | GRCh38 |
| NC_000011.9:g.108202754A>G , CM000673.1:g.108202754A>G | GRCh37 |
| NC_000011.8:g.107707964A>G | NCBI36 |
| NG_009830.1:g.114196A>G , LRG_135:g.114196A>G | |
| NG_054724.1:g.142806T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7778A>G (ATM) | ENSP00000388058.2:p.Gln2593Arg | |
| ENST00000713593.1:c.*7249A>G (ATM) | ENSP00000518889.1:n.*7249A>G | |
| ENST00000278616.9:c.7778A>G (ATM) | ENSP00000278616.4:p.Gln2593Arg | |
| ENST00000525056.2:n.2197A>G (ATM) | ||
| ENST00000525537.3:n.735A>G (ATM) | ||
| ENST00000638786.2:n.615A>G (ATM) | ||
| ENST00000682286.1:n.2535A>G (ATM) | ||
| ENST00000682302.1:n.2196A>G (ATM) | ||
| ENST00000683174.1:n.9262A>G (ATM) | ||
| ENST00000683524.1:n.3002A>G (ATM) | ||
| ENST00000684152.1:n.3343+470A>G (ATM) | ||
| ENST00000684447.1:n.2562A>G (ATM) | ||
| ENST00000527805.6:c.*2842A>G (ATM) | ENSP00000435747.2:n.*2842A>G | |
| ENST00000675595.1:c.*2913A>G (ATM) | ENSP00000502563.1:n.*2913A>G | |
| ENST00000675843.1:c.7778A>G (ATM) MANE Select | ENSP00000501606.1:p.Gln2593Arg | |
| ENST00000278616.8:c.7778A>G (ATM) | ENSP00000278616.4:p.Gln2593Arg | |
| ENST00000452508.6:c.7778A>G (ATM) | ENSP00000388058.2:p.Gln2593Arg | |
| ENST00000524755.5:c.300-460T>C (C11orf65) | ||
| ENST00000524792.5:n.3993A>G (ATM) | ||
| ENST00000525729.5:c.641-22956T>C (C11orf65) | ENSP00000433395.1:n.641-22956T>C | |
| ENST00000527531.5:c.*1270-460T>C (C11orf65) | ENSP00000431706.1:n.*1270-460T>C | |
| ENST00000533690.5:n.3182A>G (ATM) | ||
| ENST00000615746.4:c.*1270-460T>C (C11orf65) | ENSP00000483537.1:n.*1270-460T>C | |
| NM_000051.3:c.7778A>G , LRG_135t1:c.7778A>G (ATM) | NP_000042.3:p.Gln2593Arg | |
| XM_005271414.3:c.*39-460T>C (C11orf65) | XP_005271471.1:n.*39-460T>C | |
| XM_005271415.3:c.805-460T>C (C11orf65) | XP_005271472.1:n.805-460T>C | |
| XM_005271561.3:c.7778A>G (ATM) | XP_005271618.2:p.Gln2593Arg | |
| XM_005271562.3:c.7778A>G (ATM) | XP_005271619.2:p.Gln2593Arg | |
| XM_006718843.2:c.7778A>G (ATM) | XP_006718906.1:p.Gln2593Arg | |
| XM_006718845.1:c.3734A>G (ATM) | XP_006718908.1:p.Gln1245Arg | |
| XM_011542840.1:c.7778A>G (ATM) | XP_011541142.1:p.Gln2593Arg | |
| XM_011542841.1:c.7778A>G (ATM) | XP_011541143.1:p.Gln2593Arg | |
| XM_011542842.1:c.7613A>G (ATM) | XP_011541144.1:p.Gln2538Arg | |
| XM_011542843.1:c.7778A>G (ATM) | XP_011541145.1:p.Gln2593Arg | |
| XM_011542844.1:c.6734A>G (ATM) | XP_011541146.1:p.Gln2245Arg | |
| XM_011542845.1:c.6470A>G (ATM) | XP_011541147.1:p.Gln2157Arg | |
| XM_011542847.1:c.2849A>G (ATM) | XP_011541149.1:p.Gln950Arg | |
| NM_001330368.1:c.641-22956T>C (C11orf65) | NP_001317297.1:n.641-22956T>C | |
| NM_001351110.1:c.*38+3193T>C (C11orf65) | NP_001338039.1:n.*38+3193T>C | |
| NM_001351834.1:c.7778A>G (ATM) | NP_001338763.1:p.Gln2593Arg | |
| NR_147053.2:n.2375-460T>C (C11orf65) | ||
| XM_005271414.4:c.*39-460T>C (C11orf65) | XP_005271471.1:n.*39-460T>C | |
| XM_005271415.4:c.805-460T>C (C11orf65) | XP_005271472.1:n.805-460T>C | |
| XM_005271562.5:c.7778A>G (ATM) | XP_005271619.2:p.Gln2593Arg | |
| XM_006718843.4:c.7778A>G (ATM) | XP_006718906.1:p.Gln2593Arg | |
| XM_006718845.2:c.3734A>G (ATM) | XP_006718908.1:p.Gln1245Arg | |
| XM_011542840.3:c.7778A>G (ATM) | XP_011541142.1:p.Gln2593Arg | |
| XM_011542842.3:c.7613A>G (ATM) | XP_011541144.1:p.Gln2538Arg | |
| XM_011542843.2:c.7778A>G (ATM) | XP_011541145.1:p.Gln2593Arg | |
| XM_011542844.3:c.6734A>G (ATM) | XP_011541146.1:p.Gln2245Arg | |
| XM_011542845.2:c.6470A>G (ATM) | XP_011541147.1:p.Gln2157Arg | |
| XM_017017789.2:c.7778A>G (ATM) | XP_016873278.1:p.Gln2593Arg | |
| XM_017017790.2:c.7778A>G (ATM) | XP_016873279.1:p.Gln2593Arg | |
| NM_001330368.2:c.641-22956T>C (C11orf65) | NP_001317297.1:n.641-22956T>C | |
| NM_001351110.2:c.*38+3193T>C (C11orf65) | NP_001338039.1:n.*38+3193T>C | |
| NM_001351834.2:c.7778A>G (ATM) | NP_001338763.1:p.Gln2593Arg | |
| NM_000051.4:c.7778A>G (ATM) MANE Select | NP_000042.3:p.Gln2593Arg | |
| NR_147053.3:n.2373-460T>C (C11orf65) |