Linked Data
ClinVar Variation Id:
181974
ClinVar RCV Id:
RCV000159742
RCV000167946
RCV000212037
RCV000709711
RCV000762824
RCV001391204
RCV001706063
RCV001657897
RCV003162671
RCV004551374
dbSNP Id:
rs139770721
ExAC:
11:108186638 G / A
gnomAD v2:
11-108186638-G-A
gnomAD v3:
11-108315911-G-A
gnomAD v4:
11-108315911-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108315911G>A , CM000673.2:g.108315911G>A | GRCh38 |
| NC_000011.9:g.108186638G>A , CM000673.1:g.108186638G>A | GRCh37 |
| NC_000011.8:g.107691848G>A | NCBI36 |
| NG_009830.1:g.98080G>A , LRG_135:g.98080G>A | |
| NG_054724.1:g.158922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6095G>A (ATM) | ENSP00000388058.2:p.Arg2032Lys | |
| ENST00000713593.1:c.*5566G>A (ATM) | ENSP00000518889.1:n.*5566G>A | |
| ENST00000278616.9:c.6095G>A (ATM) | ENSP00000278616.4:p.Arg2032Lys | |
| ENST00000525056.2:n.514G>A (ATM) | ||
| ENST00000682286.1:n.852G>A (ATM) | ||
| ENST00000682302.1:n.513G>A (ATM) | ||
| ENST00000683174.1:n.7579G>A (ATM) | ||
| ENST00000683524.1:n.1319G>A (ATM) | ||
| ENST00000684152.1:n.1809G>A (ATM) | ||
| ENST00000527805.6:c.*1159G>A (ATM) | ENSP00000435747.2:n.*1159G>A | |
| ENST00000675595.1:c.*1159G>A (ATM) | ENSP00000502563.1:n.*1159G>A | |
| ENST00000675843.1:c.6095G>A (ATM) MANE Select | ENSP00000501606.1:p.Arg2032Lys | |
| ENST00000278616.8:c.6095G>A (ATM) | ENSP00000278616.4:p.Arg2032Lys | |
| ENST00000452508.6:c.6095G>A (ATM) | ENSP00000388058.2:p.Arg2032Lys | |
| ENST00000524792.5:n.2310G>A (ATM) | ||
| ENST00000525729.5:c.641-6840C>T (C11orf65) | ENSP00000433395.1:n.641-6840C>T | |
| ENST00000532765.1:n.412G>A (ATM) | ||
| ENST00000533690.5:n.1499G>A (ATM) | ||
| NM_000051.3:c.6095G>A , LRG_135t1:c.6095G>A (ATM) | NP_000042.3:p.Arg2032Lys | |
| XM_005271561.3:c.6095G>A (ATM) | XP_005271618.2:p.Arg2032Lys | |
| XM_005271562.3:c.6095G>A (ATM) | XP_005271619.2:p.Arg2032Lys | |
| XM_006718843.2:c.6095G>A (ATM) | XP_006718906.1:p.Arg2032Lys | |
| XM_006718845.1:c.2051G>A (ATM) | XP_006718908.1:p.Arg684Lys | |
| XM_011542840.1:c.6095G>A (ATM) | XP_011541142.1:p.Arg2032Lys | |
| XM_011542841.1:c.6095G>A (ATM) | XP_011541143.1:p.Arg2032Lys | |
| XM_011542842.1:c.5930G>A (ATM) | XP_011541144.1:p.Arg1977Lys | |
| XM_011542843.1:c.6095G>A (ATM) | XP_011541145.1:p.Arg2032Lys | |
| XM_011542844.1:c.5051G>A (ATM) | XP_011541146.1:p.Arg1684Lys | |
| XM_011542845.1:c.4787G>A (ATM) | XP_011541147.1:p.Arg1596Lys | |
| XM_011542847.1:c.1166G>A (ATM) | XP_011541149.1:p.Arg389Lys | |
| NM_001330368.1:c.641-6840C>T (C11orf65) | NP_001317297.1:n.641-6840C>T | |
| NM_001351110.1:c.*39-6840C>T (C11orf65) | NP_001338039.1:n.*39-6840C>T | |
| NM_001351834.1:c.6095G>A (ATM) | NP_001338763.1:p.Arg2032Lys | |
| XM_005271562.5:c.6095G>A (ATM) | XP_005271619.2:p.Arg2032Lys | |
| XM_006718843.4:c.6095G>A (ATM) | XP_006718906.1:p.Arg2032Lys | |
| XM_006718845.2:c.2051G>A (ATM) | XP_006718908.1:p.Arg684Lys | |
| XM_011542840.3:c.6095G>A (ATM) | XP_011541142.1:p.Arg2032Lys | |
| XM_011542842.3:c.5930G>A (ATM) | XP_011541144.1:p.Arg1977Lys | |
| XM_011542843.2:c.6095G>A (ATM) | XP_011541145.1:p.Arg2032Lys | |
| XM_011542844.3:c.5051G>A (ATM) | XP_011541146.1:p.Arg1684Lys | |
| XM_011542845.2:c.4787G>A (ATM) | XP_011541147.1:p.Arg1596Lys | |
| XM_017017789.2:c.6095G>A (ATM) | XP_016873278.1:p.Arg2032Lys | |
| XM_017017790.2:c.6095G>A (ATM) | XP_016873279.1:p.Arg2032Lys | |
| XM_017017791.1:c.6095G>A (ATM) | XP_016873280.1:p.Arg2032Lys | |
| NM_001330368.2:c.641-6840C>T (C11orf65) | NP_001317297.1:n.641-6840C>T | |
| NM_001351110.2:c.*39-6840C>T (C11orf65) | NP_001338039.1:n.*39-6840C>T | |
| NM_001351834.2:c.6095G>A (ATM) | NP_001338763.1:p.Arg2032Lys | |
| NM_000051.4:c.6095G>A (ATM) MANE Select | NP_000042.3:p.Arg2032Lys |