Linked Data
ClinVar Variation Id:
826490
ClinVar RCV Id:
RCV001025420
dbSNP Id:
rs1591107853
gnomAD v4:
11-108321418-A-G
MyVariant Identifiers:
chr11:g.108192145A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108321418A>G , CM000673.2:g.108321418A>G | GRCh38 |
| NC_000011.9:g.108192145A>G , CM000673.1:g.108192145A>G | GRCh37 |
| NC_000011.8:g.107697355A>G | NCBI36 |
| NG_009830.1:g.103587A>G , LRG_135:g.103587A>G | |
| NG_054724.1:g.153415T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6570A>G (ATM) | ENSP00000388058.2:p.Ser2190= | |
| ENST00000713593.1:c.*6041A>G (ATM) | ENSP00000518889.1:n.*6041A>G | |
| ENST00000278616.9:c.6570A>G (ATM) | ENSP00000278616.4:p.Ser2190= | |
| ENST00000525056.2:n.989A>G (ATM) | ||
| ENST00000682286.1:n.1327A>G (ATM) | ||
| ENST00000682302.1:n.988A>G (ATM) | ||
| ENST00000683174.1:n.8054A>G (ATM) | ||
| ENST00000683524.1:n.1794A>G (ATM) | ||
| ENST00000684152.1:n.2284A>G (ATM) | ||
| ENST00000527805.6:c.*1634A>G (ATM) | ENSP00000435747.2:n.*1634A>G | |
| ENST00000675595.1:c.*1705A>G (ATM) | ENSP00000502563.1:n.*1705A>G | |
| ENST00000675843.1:c.6570A>G (ATM) MANE Select | ENSP00000501606.1:p.Ser2190= | |
| ENST00000278616.8:c.6570A>G (ATM) | ENSP00000278616.4:p.Ser2190= | |
| ENST00000452508.6:c.6570A>G (ATM) | ENSP00000388058.2:p.Ser2190= | |
| ENST00000524792.5:n.2785A>G (ATM) | ||
| ENST00000525729.5:c.641-12347T>C (C11orf65) | ENSP00000433395.1:n.641-12347T>C | |
| ENST00000533690.5:n.1974A>G (ATM) | ||
| NM_000051.3:c.6570A>G , LRG_135t1:c.6570A>G (ATM) | NP_000042.3:p.Ser2190= | |
| XM_005271561.3:c.6570A>G (ATM) | XP_005271618.2:p.Ser2190= | |
| XM_005271562.3:c.6570A>G (ATM) | XP_005271619.2:p.Ser2190= | |
| XM_006718843.2:c.6570A>G (ATM) | XP_006718906.1:p.Ser2190= | |
| XM_006718845.1:c.2526A>G (ATM) | XP_006718908.1:p.Ser842= | |
| XM_011542840.1:c.6570A>G (ATM) | XP_011541142.1:p.Ser2190= | |
| XM_011542841.1:c.6570A>G (ATM) | XP_011541143.1:p.Ser2190= | |
| XM_011542842.1:c.6405A>G (ATM) | XP_011541144.1:p.Ser2135= | |
| XM_011542843.1:c.6570A>G (ATM) | XP_011541145.1:p.Ser2190= | |
| XM_011542844.1:c.5526A>G (ATM) | XP_011541146.1:p.Ser1842= | |
| XM_011542845.1:c.5262A>G (ATM) | XP_011541147.1:p.Ser1754= | |
| XM_011542847.1:c.1641A>G (ATM) | XP_011541149.1:p.Ser547= | |
| NM_001330368.1:c.641-12347T>C (C11orf65) | NP_001317297.1:n.641-12347T>C | |
| NM_001351110.1:c.*39-12347T>C (C11orf65) | NP_001338039.1:n.*39-12347T>C | |
| NM_001351834.1:c.6570A>G (ATM) | NP_001338763.1:p.Ser2190= | |
| XM_005271562.5:c.6570A>G (ATM) | XP_005271619.2:p.Ser2190= | |
| XM_006718843.4:c.6570A>G (ATM) | XP_006718906.1:p.Ser2190= | |
| XM_006718845.2:c.2526A>G (ATM) | XP_006718908.1:p.Ser842= | |
| XM_011542840.3:c.6570A>G (ATM) | XP_011541142.1:p.Ser2190= | |
| XM_011542842.3:c.6405A>G (ATM) | XP_011541144.1:p.Ser2135= | |
| XM_011542843.2:c.6570A>G (ATM) | XP_011541145.1:p.Ser2190= | |
| XM_011542844.3:c.5526A>G (ATM) | XP_011541146.1:p.Ser1842= | |
| XM_011542845.2:c.5262A>G (ATM) | XP_011541147.1:p.Ser1754= | |
| XM_017017789.2:c.6570A>G (ATM) | XP_016873278.1:p.Ser2190= | |
| XM_017017790.2:c.6570A>G (ATM) | XP_016873279.1:p.Ser2190= | |
| NM_001330368.2:c.641-12347T>C (C11orf65) | NP_001317297.1:n.641-12347T>C | |
| NM_001351110.2:c.*39-12347T>C (C11orf65) | NP_001338039.1:n.*39-12347T>C | |
| NM_001351834.2:c.6570A>G (ATM) | NP_001338763.1:p.Ser2190= | |
| NM_000051.4:c.6570A>G (ATM) MANE Select | NP_000042.3:p.Ser2190= |