Linked Data
ClinVar Variation Id:
187037
ClinVar RCV Id:
RCV000166722
RCV000255700
RCV000509266
RCV000541770
RCV002247573
RCV001175362
RCV001535786
dbSNP Id:
rs774281788
ExAC:
11:108201096 G / A
gnomAD v2:
11-108201096-G-A
gnomAD v4:
11-108330369-G-A
COSMIC:
COSM4745884
CIViC:
CA196568
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108330369G>A , CM000673.2:g.108330369G>A | GRCh38 |
| NC_000011.9:g.108201096G>A , CM000673.1:g.108201096G>A | GRCh37 |
| NC_000011.8:g.107706306G>A | NCBI36 |
| NG_009830.1:g.112538G>A , LRG_135:g.112538G>A | |
| NG_054724.1:g.144464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7463G>A (ATM) | ENSP00000388058.2:p.Cys2488Tyr | |
| ENST00000713593.1:c.*6934G>A (ATM) | ENSP00000518889.1:n.*6934G>A | |
| ENST00000278616.9:c.7463G>A (ATM) | ENSP00000278616.4:p.Cys2488Tyr | |
| ENST00000525056.2:n.1882G>A (ATM) | ||
| ENST00000525537.3:n.420G>A (ATM) | ||
| ENST00000638786.2:n.300G>A (ATM) | ||
| ENST00000682286.1:n.2220G>A (ATM) | ||
| ENST00000682302.1:n.1881G>A (ATM) | ||
| ENST00000683174.1:n.8947G>A (ATM) | ||
| ENST00000683524.1:n.2687G>A (ATM) | ||
| ENST00000684152.1:n.3177G>A (ATM) | ||
| ENST00000684447.1:n.1926G>A (ATM) | ||
| ENST00000527805.6:c.*2527G>A (ATM) | ENSP00000435747.2:n.*2527G>A | |
| ENST00000675595.1:c.*2598G>A (ATM) | ENSP00000502563.1:n.*2598G>A | |
| ENST00000675843.1:c.7463G>A (ATM) MANE Select | ENSP00000501606.1:p.Cys2488Tyr | |
| ENST00000278616.8:c.7463G>A (ATM) | ENSP00000278616.4:p.Cys2488Tyr | |
| ENST00000452508.6:c.7463G>A (ATM) | ENSP00000388058.2:p.Cys2488Tyr | |
| ENST00000524792.5:n.3678G>A (ATM) | ||
| ENST00000525729.5:c.641-21298C>T (C11orf65) | ENSP00000433395.1:n.641-21298C>T | |
| ENST00000533690.5:n.2867G>A (ATM) | ||
| NM_000051.3:c.7463G>A , LRG_135t1:c.7463G>A (ATM) | NP_000042.3:p.Cys2488Tyr | |
| XM_005271561.3:c.7463G>A (ATM) | XP_005271618.2:p.Cys2488Tyr | |
| XM_005271562.3:c.7463G>A (ATM) | XP_005271619.2:p.Cys2488Tyr | |
| XM_006718843.2:c.7463G>A (ATM) | XP_006718906.1:p.Cys2488Tyr | |
| XM_006718845.1:c.3419G>A (ATM) | XP_006718908.1:p.Cys1140Tyr | |
| XM_011542840.1:c.7463G>A (ATM) | XP_011541142.1:p.Cys2488Tyr | |
| XM_011542841.1:c.7463G>A (ATM) | XP_011541143.1:p.Cys2488Tyr | |
| XM_011542842.1:c.7298G>A (ATM) | XP_011541144.1:p.Cys2433Tyr | |
| XM_011542843.1:c.7463G>A (ATM) | XP_011541145.1:p.Cys2488Tyr | |
| XM_011542844.1:c.6419G>A (ATM) | XP_011541146.1:p.Cys2140Tyr | |
| XM_011542845.1:c.6155G>A (ATM) | XP_011541147.1:p.Cys2052Tyr | |
| XM_011542847.1:c.2534G>A (ATM) | XP_011541149.1:p.Cys845Tyr | |
| NM_001330368.1:c.641-21298C>T (C11orf65) | NP_001317297.1:n.641-21298C>T | |
| NM_001351110.1:c.*38+4851C>T (C11orf65) | NP_001338039.1:n.*38+4851C>T | |
| NM_001351834.1:c.7463G>A (ATM) | NP_001338763.1:p.Cys2488Tyr | |
| XM_005271562.5:c.7463G>A (ATM) | XP_005271619.2:p.Cys2488Tyr | |
| XM_006718843.4:c.7463G>A (ATM) | XP_006718906.1:p.Cys2488Tyr | |
| XM_006718845.2:c.3419G>A (ATM) | XP_006718908.1:p.Cys1140Tyr | |
| XM_011542840.3:c.7463G>A (ATM) | XP_011541142.1:p.Cys2488Tyr | |
| XM_011542842.3:c.7298G>A (ATM) | XP_011541144.1:p.Cys2433Tyr | |
| XM_011542843.2:c.7463G>A (ATM) | XP_011541145.1:p.Cys2488Tyr | |
| XM_011542844.3:c.6419G>A (ATM) | XP_011541146.1:p.Cys2140Tyr | |
| XM_011542845.2:c.6155G>A (ATM) | XP_011541147.1:p.Cys2052Tyr | |
| XM_017017789.2:c.7463G>A (ATM) | XP_016873278.1:p.Cys2488Tyr | |
| XM_017017790.2:c.7463G>A (ATM) | XP_016873279.1:p.Cys2488Tyr | |
| NM_001330368.2:c.641-21298C>T (C11orf65) | NP_001317297.1:n.641-21298C>T | |
| NM_001351110.2:c.*38+4851C>T (C11orf65) | NP_001338039.1:n.*38+4851C>T | |
| NM_001351834.2:c.7463G>A (ATM) | NP_001338763.1:p.Cys2488Tyr | |
| NM_000051.4:c.7463G>A (ATM) MANE Select | NP_000042.3:p.Cys2488Tyr |