Linked Data
ClinVar Variation Id:
482697
dbSNP Id:
rs1163371592
gnomAD v3:
11-108329195-G-A
gnomAD v4:
11-108329195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108329195G>A , CM000673.2:g.108329195G>A | GRCh38 |
| NC_000011.9:g.108199922G>A , CM000673.1:g.108199922G>A | GRCh37 |
| NC_000011.8:g.107705132G>A | NCBI36 |
| NG_009830.1:g.111364G>A , LRG_135:g.111364G>A | |
| NG_054724.1:g.145638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7264G>A (ATM) | ENSP00000388058.2:p.Glu2422Lys | |
| ENST00000713593.1:c.*6735G>A (ATM) | ENSP00000518889.1:n.*6735G>A | |
| ENST00000278616.9:c.7264G>A (ATM) | ENSP00000278616.4:p.Glu2422Lys | |
| ENST00000525056.2:n.1683G>A (ATM) | ||
| ENST00000525537.3:n.221G>A (ATM) | ||
| ENST00000638786.2:n.101G>A (ATM) | ||
| ENST00000682286.1:n.2021G>A (ATM) | ||
| ENST00000682302.1:n.1682G>A (ATM) | ||
| ENST00000683174.1:n.8748G>A (ATM) | ||
| ENST00000683524.1:n.2488G>A (ATM) | ||
| ENST00000684152.1:n.2978G>A (ATM) | ||
| ENST00000684447.1:n.1727G>A (ATM) | ||
| ENST00000527805.6:c.*2328G>A (ATM) | ENSP00000435747.2:n.*2328G>A | |
| ENST00000675595.1:c.*2399G>A (ATM) | ENSP00000502563.1:n.*2399G>A | |
| ENST00000675843.1:c.7264G>A (ATM) MANE Select | ENSP00000501606.1:p.Glu2422Lys | |
| ENST00000278616.8:c.7264G>A (ATM) | ENSP00000278616.4:p.Glu2422Lys | |
| ENST00000452508.6:c.7264G>A (ATM) | ENSP00000388058.2:p.Glu2422Lys | |
| ENST00000524792.5:n.3479G>A (ATM) | ||
| ENST00000525537.2:n.540G>A (ATM) | ||
| ENST00000525729.5:c.641-20124C>T (C11orf65) | ENSP00000433395.1:n.641-20124C>T | |
| ENST00000527389.2:n.289G>A (ATM) | ||
| ENST00000533690.5:n.2668G>A (ATM) | ||
| NM_000051.3:c.7264G>A , LRG_135t1:c.7264G>A (ATM) | NP_000042.3:p.Glu2422Lys | |
| XM_005271561.3:c.7264G>A (ATM) | XP_005271618.2:p.Glu2422Lys | |
| XM_005271562.3:c.7264G>A (ATM) | XP_005271619.2:p.Glu2422Lys | |
| XM_006718843.2:c.7264G>A (ATM) | XP_006718906.1:p.Glu2422Lys | |
| XM_006718845.1:c.3220G>A (ATM) | XP_006718908.1:p.Glu1074Lys | |
| XM_011542840.1:c.7264G>A (ATM) | XP_011541142.1:p.Glu2422Lys | |
| XM_011542841.1:c.7264G>A (ATM) | XP_011541143.1:p.Glu2422Lys | |
| XM_011542842.1:c.7099G>A (ATM) | XP_011541144.1:p.Glu2367Lys | |
| XM_011542843.1:c.7264G>A (ATM) | XP_011541145.1:p.Glu2422Lys | |
| XM_011542844.1:c.6220G>A (ATM) | XP_011541146.1:p.Glu2074Lys | |
| XM_011542845.1:c.5956G>A (ATM) | XP_011541147.1:p.Glu1986Lys | |
| XM_011542847.1:c.2335G>A (ATM) | XP_011541149.1:p.Glu779Lys | |
| NM_001330368.1:c.641-20124C>T (C11orf65) | NP_001317297.1:n.641-20124C>T | |
| NM_001351110.1:c.*38+6025C>T (C11orf65) | NP_001338039.1:n.*38+6025C>T | |
| NM_001351834.1:c.7264G>A (ATM) | NP_001338763.1:p.Glu2422Lys | |
| XM_005271562.5:c.7264G>A (ATM) | XP_005271619.2:p.Glu2422Lys | |
| XM_006718843.4:c.7264G>A (ATM) | XP_006718906.1:p.Glu2422Lys | |
| XM_006718845.2:c.3220G>A (ATM) | XP_006718908.1:p.Glu1074Lys | |
| XM_011542840.3:c.7264G>A (ATM) | XP_011541142.1:p.Glu2422Lys | |
| XM_011542842.3:c.7099G>A (ATM) | XP_011541144.1:p.Glu2367Lys | |
| XM_011542843.2:c.7264G>A (ATM) | XP_011541145.1:p.Glu2422Lys | |
| XM_011542844.3:c.6220G>A (ATM) | XP_011541146.1:p.Glu2074Lys | |
| XM_011542845.2:c.5956G>A (ATM) | XP_011541147.1:p.Glu1986Lys | |
| XM_017017789.2:c.7264G>A (ATM) | XP_016873278.1:p.Glu2422Lys | |
| XM_017017790.2:c.7264G>A (ATM) | XP_016873279.1:p.Glu2422Lys | |
| NM_001330368.2:c.641-20124C>T (C11orf65) | NP_001317297.1:n.641-20124C>T | |
| NM_001351110.2:c.*38+6025C>T (C11orf65) | NP_001338039.1:n.*38+6025C>T | |
| NM_001351834.2:c.7264G>A (ATM) | NP_001338763.1:p.Glu2422Lys | |
| NM_000051.4:c.7264G>A (ATM) MANE Select | NP_000042.3:p.Glu2422Lys |