Linked Data
ClinVar Variation Id:
127440
ClinVar RCV Id:
RCV000115246
RCV000200256
RCV000515201
RCV000589408
RCV001354272
RCV002225326
RCV001260260
RCV004549569
dbSNP Id:
rs147604227
ExAC:
11:108200946 C / T
gnomAD v2:
11-108200946-C-T
gnomAD v3:
11-108330219-C-T
gnomAD v4:
11-108330219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108330219C>T , CM000673.2:g.108330219C>T | GRCh38 |
| NC_000011.9:g.108200946C>T , CM000673.1:g.108200946C>T | GRCh37 |
| NC_000011.8:g.107706156C>T | NCBI36 |
| NG_009830.1:g.112388C>T , LRG_135:g.112388C>T | |
| NG_054724.1:g.144614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7313C>T (ATM) | ENSP00000388058.2:p.Thr2438Ile | |
| ENST00000713593.1:c.*6784C>T (ATM) | ENSP00000518889.1:n.*6784C>T | |
| ENST00000278616.9:c.7313C>T (ATM) | ENSP00000278616.4:p.Thr2438Ile | |
| ENST00000525056.2:n.1732C>T (ATM) | ||
| ENST00000525537.3:n.270C>T (ATM) | ||
| ENST00000638786.2:n.150C>T (ATM) | ||
| ENST00000682286.1:n.2070C>T (ATM) | ||
| ENST00000682302.1:n.1731C>T (ATM) | ||
| ENST00000683174.1:n.8797C>T (ATM) | ||
| ENST00000683524.1:n.2537C>T (ATM) | ||
| ENST00000684152.1:n.3027C>T (ATM) | ||
| ENST00000684447.1:n.1776C>T (ATM) | ||
| ENST00000527805.6:c.*2377C>T (ATM) | ENSP00000435747.2:n.*2377C>T | |
| ENST00000675595.1:c.*2448C>T (ATM) | ENSP00000502563.1:n.*2448C>T | |
| ENST00000675843.1:c.7313C>T (ATM) MANE Select | ENSP00000501606.1:p.Thr2438Ile | |
| ENST00000278616.8:c.7313C>T (ATM) | ENSP00000278616.4:p.Thr2438Ile | |
| ENST00000452508.6:c.7313C>T (ATM) | ENSP00000388058.2:p.Thr2438Ile | |
| ENST00000524792.5:n.3528C>T (ATM) | ||
| ENST00000525729.5:c.641-21148G>A (C11orf65) | ENSP00000433395.1:n.641-21148G>A | |
| ENST00000533690.5:n.2717C>T (ATM) | ||
| NM_000051.3:c.7313C>T , LRG_135t1:c.7313C>T (ATM) | NP_000042.3:p.Thr2438Ile | |
| XM_005271561.3:c.7313C>T (ATM) | XP_005271618.2:p.Thr2438Ile | |
| XM_005271562.3:c.7313C>T (ATM) | XP_005271619.2:p.Thr2438Ile | |
| XM_006718843.2:c.7313C>T (ATM) | XP_006718906.1:p.Thr2438Ile | |
| XM_006718845.1:c.3269C>T (ATM) | XP_006718908.1:p.Thr1090Ile | |
| XM_011542840.1:c.7313C>T (ATM) | XP_011541142.1:p.Thr2438Ile | |
| XM_011542841.1:c.7313C>T (ATM) | XP_011541143.1:p.Thr2438Ile | |
| XM_011542842.1:c.7148C>T (ATM) | XP_011541144.1:p.Thr2383Ile | |
| XM_011542843.1:c.7313C>T (ATM) | XP_011541145.1:p.Thr2438Ile | |
| XM_011542844.1:c.6269C>T (ATM) | XP_011541146.1:p.Thr2090Ile | |
| XM_011542845.1:c.6005C>T (ATM) | XP_011541147.1:p.Thr2002Ile | |
| XM_011542847.1:c.2384C>T (ATM) | XP_011541149.1:p.Thr795Ile | |
| NM_001330368.1:c.641-21148G>A (C11orf65) | NP_001317297.1:n.641-21148G>A | |
| NM_001351110.1:c.*38+5001G>A (C11orf65) | NP_001338039.1:n.*38+5001G>A | |
| NM_001351834.1:c.7313C>T (ATM) | NP_001338763.1:p.Thr2438Ile | |
| XM_005271562.5:c.7313C>T (ATM) | XP_005271619.2:p.Thr2438Ile | |
| XM_006718843.4:c.7313C>T (ATM) | XP_006718906.1:p.Thr2438Ile | |
| XM_006718845.2:c.3269C>T (ATM) | XP_006718908.1:p.Thr1090Ile | |
| XM_011542840.3:c.7313C>T (ATM) | XP_011541142.1:p.Thr2438Ile | |
| XM_011542842.3:c.7148C>T (ATM) | XP_011541144.1:p.Thr2383Ile | |
| XM_011542843.2:c.7313C>T (ATM) | XP_011541145.1:p.Thr2438Ile | |
| XM_011542844.3:c.6269C>T (ATM) | XP_011541146.1:p.Thr2090Ile | |
| XM_011542845.2:c.6005C>T (ATM) | XP_011541147.1:p.Thr2002Ile | |
| XM_017017789.2:c.7313C>T (ATM) | XP_016873278.1:p.Thr2438Ile | |
| XM_017017790.2:c.7313C>T (ATM) | XP_016873279.1:p.Thr2438Ile | |
| NM_001330368.2:c.641-21148G>A (C11orf65) | NP_001317297.1:n.641-21148G>A | |
| NM_001351110.2:c.*38+5001G>A (C11orf65) | NP_001338039.1:n.*38+5001G>A | |
| NM_001351834.2:c.7313C>T (ATM) | NP_001338763.1:p.Thr2438Ile | |
| NM_000051.4:c.7313C>T (ATM) MANE Select | NP_000042.3:p.Thr2438Ile |