Linked Data
ClinVar Variation Id:
127416
ClinVar RCV Id:
RCV000115221
RCV000120151
RCV000122864
RCV000513642
RCV001253480
RCV001356569
RCV001798320
RCV002225322
RCV002225321
dbSNP Id:
rs11212587
ExAC:
11:108186610 G / A
gnomAD v2:
11-108186610-G-A
gnomAD v3:
11-108315883-G-A
gnomAD v4:
11-108315883-G-A
COSMIC:
COSM24635
PubMed:
PMID:11505391
PMID:12149228
PMID:12810666
PMID:16461462
PMID:17393301
PMID:17968022
PMID:19404735
PMID:19781682
PMID:21933854
PMID:22529920
PMID:23091097
PMID:23555315
PMID:24728327
PMID:25625042
PMID:25980754
PMID:26053404
PMID:26094658
PMID:26787654
PMID:26822949
PMID:26976419
PMID:27153395
PMID:27621404
PMID:27664052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108315883G>A , CM000673.2:g.108315883G>A | GRCh38 |
| NC_000011.9:g.108186610G>A , CM000673.1:g.108186610G>A | GRCh37 |
| NC_000011.8:g.107691820G>A | NCBI36 |
| NG_009830.1:g.98052G>A , LRG_135:g.98052G>A | |
| NG_054724.1:g.158950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6067G>A (ATM) | ENSP00000388058.2:p.Gly2023Arg | |
| ENST00000713593.1:c.*5538G>A (ATM) | ENSP00000518889.1:n.*5538G>A | |
| ENST00000278616.9:c.6067G>A (ATM) | ENSP00000278616.4:p.Gly2023Arg | |
| ENST00000525056.2:n.486G>A (ATM) | ||
| ENST00000682286.1:n.824G>A (ATM) | ||
| ENST00000682302.1:n.485G>A (ATM) | ||
| ENST00000683174.1:n.7551G>A (ATM) | ||
| ENST00000683524.1:n.1291G>A (ATM) | ||
| ENST00000684152.1:n.1781G>A (ATM) | ||
| ENST00000527805.6:c.*1131G>A (ATM) | ENSP00000435747.2:n.*1131G>A | |
| ENST00000675595.1:c.*1131G>A (ATM) | ENSP00000502563.1:n.*1131G>A | |
| ENST00000675843.1:c.6067G>A (ATM) MANE Select | ENSP00000501606.1:p.Gly2023Arg | |
| ENST00000278616.8:c.6067G>A (ATM) | ENSP00000278616.4:p.Gly2023Arg | |
| ENST00000452508.6:c.6067G>A (ATM) | ENSP00000388058.2:p.Gly2023Arg | |
| ENST00000524792.5:n.2282G>A (ATM) | ||
| ENST00000525729.5:c.641-6812C>T (C11orf65) | ENSP00000433395.1:n.641-6812C>T | |
| ENST00000529588.5:c.491G>A (ATM) | ||
| ENST00000532765.1:n.384G>A (ATM) | ||
| ENST00000533690.5:n.1471G>A (ATM) | ||
| NM_000051.3:c.6067G>A , LRG_135t1:c.6067G>A (ATM) | NP_000042.3:p.Gly2023Arg | |
| XM_005271561.3:c.6067G>A (ATM) | XP_005271618.2:p.Gly2023Arg | |
| XM_005271562.3:c.6067G>A (ATM) | XP_005271619.2:p.Gly2023Arg | |
| XM_006718843.2:c.6067G>A (ATM) | XP_006718906.1:p.Gly2023Arg | |
| XM_006718845.1:c.2023G>A (ATM) | XP_006718908.1:p.Gly675Arg | |
| XM_011542840.1:c.6067G>A (ATM) | XP_011541142.1:p.Gly2023Arg | |
| XM_011542841.1:c.6067G>A (ATM) | XP_011541143.1:p.Gly2023Arg | |
| XM_011542842.1:c.5902G>A (ATM) | XP_011541144.1:p.Gly1968Arg | |
| XM_011542843.1:c.6067G>A (ATM) | XP_011541145.1:p.Gly2023Arg | |
| XM_011542844.1:c.5023G>A (ATM) | XP_011541146.1:p.Gly1675Arg | |
| XM_011542845.1:c.4759G>A (ATM) | XP_011541147.1:p.Gly1587Arg | |
| XM_011542847.1:c.1138G>A (ATM) | XP_011541149.1:p.Gly380Arg | |
| NM_001330368.1:c.641-6812C>T (C11orf65) | NP_001317297.1:n.641-6812C>T | |
| NM_001351110.1:c.*39-6812C>T (C11orf65) | NP_001338039.1:n.*39-6812C>T | |
| NM_001351834.1:c.6067G>A (ATM) | NP_001338763.1:p.Gly2023Arg | |
| XM_005271562.5:c.6067G>A (ATM) | XP_005271619.2:p.Gly2023Arg | |
| XM_006718843.4:c.6067G>A (ATM) | XP_006718906.1:p.Gly2023Arg | |
| XM_006718845.2:c.2023G>A (ATM) | XP_006718908.1:p.Gly675Arg | |
| XM_011542840.3:c.6067G>A (ATM) | XP_011541142.1:p.Gly2023Arg | |
| XM_011542842.3:c.5902G>A (ATM) | XP_011541144.1:p.Gly1968Arg | |
| XM_011542843.2:c.6067G>A (ATM) | XP_011541145.1:p.Gly2023Arg | |
| XM_011542844.3:c.5023G>A (ATM) | XP_011541146.1:p.Gly1675Arg | |
| XM_011542845.2:c.4759G>A (ATM) | XP_011541147.1:p.Gly1587Arg | |
| XM_017017789.2:c.6067G>A (ATM) | XP_016873278.1:p.Gly2023Arg | |
| XM_017017790.2:c.6067G>A (ATM) | XP_016873279.1:p.Gly2023Arg | |
| XM_017017791.1:c.6067G>A (ATM) | XP_016873280.1:p.Gly2023Arg | |
| NM_001330368.2:c.641-6812C>T (C11orf65) | NP_001317297.1:n.641-6812C>T | |
| NM_001351110.2:c.*39-6812C>T (C11orf65) | NP_001338039.1:n.*39-6812C>T | |
| NM_001351834.2:c.6067G>A (ATM) | NP_001338763.1:p.Gly2023Arg | |
| NM_000051.4:c.6067G>A (ATM) MANE Select | NP_000042.3:p.Gly2023Arg |