Linked Data
ClinVar Variation Id:
186221
ClinVar RCV Id:
RCV000165775
RCV000205267
RCV000590569
RCV000764937
RCV002225485
RCV003387784
RCV003474869
dbSNP Id:
rs146243469
ExAC:
11:108192112 T / G
gnomAD v2:
11-108192112-T-G
gnomAD v3:
11-108321385-T-G
gnomAD v4:
11-108321385-T-G
PubMed:
PMID:23555315
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108321385T>G , CM000673.2:g.108321385T>G | GRCh38 |
| NC_000011.9:g.108192112T>G , CM000673.1:g.108192112T>G | GRCh37 |
| NC_000011.8:g.107697322T>G | NCBI36 |
| NG_009830.1:g.103554T>G , LRG_135:g.103554T>G | |
| NG_054724.1:g.153448A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6537T>G (ATM) | ENSP00000388058.2:p.Ile2179Met | |
| ENST00000713593.1:c.*6008T>G (ATM) | ENSP00000518889.1:n.*6008T>G | |
| ENST00000278616.9:c.6537T>G (ATM) | ENSP00000278616.4:p.Ile2179Met | |
| ENST00000525056.2:n.956T>G (ATM) | ||
| ENST00000682286.1:n.1294T>G (ATM) | ||
| ENST00000682302.1:n.955T>G (ATM) | ||
| ENST00000683174.1:n.8021T>G (ATM) | ||
| ENST00000683524.1:n.1761T>G (ATM) | ||
| ENST00000684152.1:n.2251T>G (ATM) | ||
| ENST00000527805.6:c.*1601T>G (ATM) | ENSP00000435747.2:n.*1601T>G | |
| ENST00000675595.1:c.*1672T>G (ATM) | ENSP00000502563.1:n.*1672T>G | |
| ENST00000675843.1:c.6537T>G (ATM) MANE Select | ENSP00000501606.1:p.Ile2179Met | |
| ENST00000278616.8:c.6537T>G (ATM) | ENSP00000278616.4:p.Ile2179Met | |
| ENST00000452508.6:c.6537T>G (ATM) | ENSP00000388058.2:p.Ile2179Met | |
| ENST00000524792.5:n.2752T>G (ATM) | ||
| ENST00000525729.5:c.641-12314A>C (C11orf65) | ENSP00000433395.1:n.641-12314A>C | |
| ENST00000533690.5:n.1941T>G (ATM) | ||
| NM_000051.3:c.6537T>G , LRG_135t1:c.6537T>G (ATM) | NP_000042.3:p.Ile2179Met | |
| XM_005271561.3:c.6537T>G (ATM) | XP_005271618.2:p.Ile2179Met | |
| XM_005271562.3:c.6537T>G (ATM) | XP_005271619.2:p.Ile2179Met | |
| XM_006718843.2:c.6537T>G (ATM) | XP_006718906.1:p.Ile2179Met | |
| XM_006718845.1:c.2493T>G (ATM) | XP_006718908.1:p.Ile831Met | |
| XM_011542840.1:c.6537T>G (ATM) | XP_011541142.1:p.Ile2179Met | |
| XM_011542841.1:c.6537T>G (ATM) | XP_011541143.1:p.Ile2179Met | |
| XM_011542842.1:c.6372T>G (ATM) | XP_011541144.1:p.Ile2124Met | |
| XM_011542843.1:c.6537T>G (ATM) | XP_011541145.1:p.Ile2179Met | |
| XM_011542844.1:c.5493T>G (ATM) | XP_011541146.1:p.Ile1831Met | |
| XM_011542845.1:c.5229T>G (ATM) | XP_011541147.1:p.Ile1743Met | |
| XM_011542847.1:c.1608T>G (ATM) | XP_011541149.1:p.Ile536Met | |
| NM_001330368.1:c.641-12314A>C (C11orf65) | NP_001317297.1:n.641-12314A>C | |
| NM_001351110.1:c.*39-12314A>C (C11orf65) | NP_001338039.1:n.*39-12314A>C | |
| NM_001351834.1:c.6537T>G (ATM) | NP_001338763.1:p.Ile2179Met | |
| XM_005271562.5:c.6537T>G (ATM) | XP_005271619.2:p.Ile2179Met | |
| XM_006718843.4:c.6537T>G (ATM) | XP_006718906.1:p.Ile2179Met | |
| XM_006718845.2:c.2493T>G (ATM) | XP_006718908.1:p.Ile831Met | |
| XM_011542840.3:c.6537T>G (ATM) | XP_011541142.1:p.Ile2179Met | |
| XM_011542842.3:c.6372T>G (ATM) | XP_011541144.1:p.Ile2124Met | |
| XM_011542843.2:c.6537T>G (ATM) | XP_011541145.1:p.Ile2179Met | |
| XM_011542844.3:c.5493T>G (ATM) | XP_011541146.1:p.Ile1831Met | |
| XM_011542845.2:c.5229T>G (ATM) | XP_011541147.1:p.Ile1743Met | |
| XM_017017789.2:c.6537T>G (ATM) | XP_016873278.1:p.Ile2179Met | |
| XM_017017790.2:c.6537T>G (ATM) | XP_016873279.1:p.Ile2179Met | |
| NM_001330368.2:c.641-12314A>C (C11orf65) | NP_001317297.1:n.641-12314A>C | |
| NM_001351110.2:c.*39-12314A>C (C11orf65) | NP_001338039.1:n.*39-12314A>C | |
| NM_001351834.2:c.6537T>G (ATM) | NP_001338763.1:p.Ile2179Met | |
| NM_000051.4:c.6537T>G (ATM) MANE Select | NP_000042.3:p.Ile2179Met |