Linked Data
ClinVar Variation Id:
418045
dbSNP Id:
rs587781946
gnomAD v3:
11-108335880-A-G
gnomAD v4:
11-108335880-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108335880A>G , CM000673.2:g.108335880A>G | GRCh38 |
| NC_000011.9:g.108206607A>G , CM000673.1:g.108206607A>G | GRCh37 |
| NC_000011.8:g.107711817A>G | NCBI36 |
| NG_009830.1:g.118049A>G , LRG_135:g.118049A>G | |
| NG_054724.1:g.138953T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8187A>G (ATM) | ENSP00000388058.2:p.Gln2729= | |
| ENST00000713593.1:c.*7658A>G (ATM) | ENSP00000518889.1:n.*7658A>G | |
| ENST00000278616.9:c.8187A>G (ATM) | ENSP00000278616.4:p.Gln2729= | |
| ENST00000525056.2:n.2606A>G (ATM) | ||
| ENST00000638786.2:n.885A>G (ATM) | ||
| ENST00000682286.1:n.2944A>G (ATM) | ||
| ENST00000682302.1:n.2605A>G (ATM) | ||
| ENST00000683174.1:n.9671A>G (ATM) | ||
| ENST00000683524.1:n.3411A>G (ATM) | ||
| ENST00000684152.1:n.3603A>G (ATM) | ||
| ENST00000684180.1:n.661A>G (ATM) | ||
| ENST00000684447.1:n.4680A>G (ATM) | ||
| ENST00000527805.6:c.*3251A>G (ATM) | ENSP00000435747.2:n.*3251A>G | |
| ENST00000675595.1:c.*3322A>G (ATM) | ENSP00000502563.1:n.*3322A>G | |
| ENST00000675843.1:c.8187A>G (ATM) MANE Select | ENSP00000501606.1:p.Gln2729= | |
| ENST00000278616.8:c.8187A>G (ATM) | ENSP00000278616.4:p.Gln2729= | |
| ENST00000452508.6:c.8187A>G (ATM) | ENSP00000388058.2:p.Gln2729= | |
| ENST00000524755.5:c.227-588T>C (C11orf65) | ||
| ENST00000524792.5:n.4402A>G (ATM) | ||
| ENST00000525056.1:n.384A>G (ATM) | ||
| ENST00000525729.5:c.641-26809T>C (C11orf65) | ENSP00000433395.1:n.641-26809T>C | |
| ENST00000527531.5:c.*1197-588T>C (C11orf65) | ENSP00000431706.1:n.*1197-588T>C | |
| ENST00000533979.5:n.399A>G (ATM) | ||
| ENST00000615746.4:c.*1197-588T>C (C11orf65) | ENSP00000483537.1:n.*1197-588T>C | |
| NM_000051.3:c.8187A>G , LRG_135t1:c.8187A>G (ATM) | NP_000042.3:p.Gln2729= | |
| XM_005271414.3:c.788-588T>C (C11orf65) | XP_005271471.1:n.788-588T>C | |
| XM_005271415.3:c.732-588T>C (C11orf65) | XP_005271472.1:n.732-588T>C | |
| XM_005271561.3:c.8187A>G (ATM) | XP_005271618.2:p.Gln2729= | |
| XM_005271562.3:c.8187A>G (ATM) | XP_005271619.2:p.Gln2729= | |
| XM_006718843.2:c.8187A>G (ATM) | XP_006718906.1:p.Gln2729= | |
| XM_006718845.1:c.4143A>G (ATM) | XP_006718908.1:p.Gln1381= | |
| XM_011542840.1:c.8187A>G (ATM) | XP_011541142.1:p.Gln2729= | |
| XM_011542841.1:c.8187A>G (ATM) | XP_011541143.1:p.Gln2729= | |
| XM_011542842.1:c.8022A>G (ATM) | XP_011541144.1:p.Gln2674= | |
| XM_011542843.1:c.8187A>G (ATM) | XP_011541145.1:p.Gln2729= | |
| XM_011542844.1:c.7143A>G (ATM) | XP_011541146.1:p.Gln2381= | |
| XM_011542845.1:c.6879A>G (ATM) | XP_011541147.1:p.Gln2293= | |
| XM_011542847.1:c.3258A>G (ATM) | XP_011541149.1:p.Gln1086= | |
| NM_001330368.1:c.641-26809T>C (C11orf65) | NP_001317297.1:n.641-26809T>C | |
| NM_001351110.1:c.695-588T>C (C11orf65) | NP_001338039.1:n.695-588T>C | |
| NM_001351834.1:c.8187A>G (ATM) | NP_001338763.1:p.Gln2729= | |
| NR_147053.2:n.2302-588T>C (C11orf65) | ||
| XM_005271414.4:c.788-588T>C (C11orf65) | XP_005271471.1:n.788-588T>C | |
| XM_005271415.4:c.732-588T>C (C11orf65) | XP_005271472.1:n.732-588T>C | |
| XM_005271562.5:c.8187A>G (ATM) | XP_005271619.2:p.Gln2729= | |
| XM_006718843.4:c.8187A>G (ATM) | XP_006718906.1:p.Gln2729= | |
| XM_006718845.2:c.4143A>G (ATM) | XP_006718908.1:p.Gln1381= | |
| XM_011542840.3:c.8187A>G (ATM) | XP_011541142.1:p.Gln2729= | |
| XM_011542842.3:c.8022A>G (ATM) | XP_011541144.1:p.Gln2674= | |
| XM_011542843.2:c.8187A>G (ATM) | XP_011541145.1:p.Gln2729= | |
| XM_011542844.3:c.7143A>G (ATM) | XP_011541146.1:p.Gln2381= | |
| XM_011542845.2:c.6879A>G (ATM) | XP_011541147.1:p.Gln2293= | |
| XM_017017789.2:c.8187A>G (ATM) | XP_016873278.1:p.Gln2729= | |
| XM_017017790.2:c.8187A>G (ATM) | XP_016873279.1:p.Gln2729= | |
| NM_001330368.2:c.641-26809T>C (C11orf65) | NP_001317297.1:n.641-26809T>C | |
| NM_001351110.2:c.695-588T>C (C11orf65) | NP_001338039.1:n.695-588T>C | |
| NM_001351834.2:c.8187A>G (ATM) | NP_001338763.1:p.Gln2729= | |
| NM_000051.4:c.8187A>G (ATM) MANE Select | NP_000042.3:p.Gln2729= | |
| NR_147053.3:n.2300-588T>C (C11orf65) |