Linked Data
ClinVar Variation Id:
3023
ClinVar RCV Id:
RCV000003160
RCV000003161
RCV000003159
RCV000115244
RCV000168223
RCV000212060
RCV000417259
RCV000515429
RCV000709707
RCV003149562
dbSNP Id:
rs28904921
ExAC:
11:108199929 T / G
gnomAD v2:
11-108199929-T-G
gnomAD v3:
11-108329202-T-G
gnomAD v4:
11-108329202-T-G
COSMIC:
COSM22477
PubMed:
PMID:8755918
PMID:9288106
PMID:9463314
PMID:10534763
PMID:10607471
PMID:11382771
PMID:11830610
PMID:12205473
PMID:12810666
PMID:15880680
PMID:15928302
PMID:16958054
PMID:18575927
PMID:18634022
PMID:19348699
PMID:19431188
PMID:19781682
PMID:21787400
PMID:22529920
PMID:24088041
PMID:24733792
PMID:25980754
PMID:26506520
PMID:26633545
PMID:27528516
ERepo:
CA115930/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108329202T>G , CM000673.2:g.108329202T>G | GRCh38 |
| NC_000011.9:g.108199929T>G , CM000673.1:g.108199929T>G | GRCh37 |
| NC_000011.8:g.107705139T>G | NCBI36 |
| NG_009830.1:g.111371T>G , LRG_135:g.111371T>G | |
| NG_054724.1:g.145631A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7271T>G (ATM) | ENSP00000388058.2:p.Val2424Gly | |
| ENST00000713593.1:c.*6742T>G (ATM) | ENSP00000518889.1:n.*6742T>G | |
| ENST00000278616.9:c.7271T>G (ATM) | ENSP00000278616.4:p.Val2424Gly | |
| ENST00000525056.2:n.1690T>G (ATM) | ||
| ENST00000525537.3:n.228T>G (ATM) | ||
| ENST00000638786.2:n.108T>G (ATM) | ||
| ENST00000682286.1:n.2028T>G (ATM) | ||
| ENST00000682302.1:n.1689T>G (ATM) | ||
| ENST00000683174.1:n.8755T>G (ATM) | ||
| ENST00000683524.1:n.2495T>G (ATM) | ||
| ENST00000684152.1:n.2985T>G (ATM) | ||
| ENST00000684447.1:n.1734T>G (ATM) | ||
| ENST00000527805.6:c.*2335T>G (ATM) | ENSP00000435747.2:n.*2335T>G | |
| ENST00000675595.1:c.*2406T>G (ATM) | ENSP00000502563.1:n.*2406T>G | |
| ENST00000675843.1:c.7271T>G (ATM) MANE Select | ENSP00000501606.1:p.Val2424Gly | |
| ENST00000278616.8:c.7271T>G (ATM) | ENSP00000278616.4:p.Val2424Gly | |
| ENST00000452508.6:c.7271T>G (ATM) | ENSP00000388058.2:p.Val2424Gly | |
| ENST00000524792.5:n.3486T>G (ATM) | ||
| ENST00000525537.2:n.547T>G (ATM) | ||
| ENST00000525729.5:c.641-20131A>C (C11orf65) | ENSP00000433395.1:n.641-20131A>C | |
| ENST00000527389.2:n.296T>G (ATM) | ||
| ENST00000533690.5:n.2675T>G (ATM) | ||
| NM_000051.3:c.7271T>G , LRG_135t1:c.7271T>G (ATM) | NP_000042.3:p.Val2424Gly | |
| XM_005271561.3:c.7271T>G (ATM) | XP_005271618.2:p.Val2424Gly | |
| XM_005271562.3:c.7271T>G (ATM) | XP_005271619.2:p.Val2424Gly | |
| XM_006718843.2:c.7271T>G (ATM) | XP_006718906.1:p.Val2424Gly | |
| XM_006718845.1:c.3227T>G (ATM) | XP_006718908.1:p.Val1076Gly | |
| XM_011542840.1:c.7271T>G (ATM) | XP_011541142.1:p.Val2424Gly | |
| XM_011542841.1:c.7271T>G (ATM) | XP_011541143.1:p.Val2424Gly | |
| XM_011542842.1:c.7106T>G (ATM) | XP_011541144.1:p.Val2369Gly | |
| XM_011542843.1:c.7271T>G (ATM) | XP_011541145.1:p.Val2424Gly | |
| XM_011542844.1:c.6227T>G (ATM) | XP_011541146.1:p.Val2076Gly | |
| XM_011542845.1:c.5963T>G (ATM) | XP_011541147.1:p.Val1988Gly | |
| XM_011542847.1:c.2342T>G (ATM) | XP_011541149.1:p.Val781Gly | |
| NM_001330368.1:c.641-20131A>C (C11orf65) | NP_001317297.1:n.641-20131A>C | |
| NM_001351110.1:c.*38+6018A>C (C11orf65) | NP_001338039.1:n.*38+6018A>C | |
| NM_001351834.1:c.7271T>G (ATM) | NP_001338763.1:p.Val2424Gly | |
| XM_005271562.5:c.7271T>G (ATM) | XP_005271619.2:p.Val2424Gly | |
| XM_006718843.4:c.7271T>G (ATM) | XP_006718906.1:p.Val2424Gly | |
| XM_006718845.2:c.3227T>G (ATM) | XP_006718908.1:p.Val1076Gly | |
| XM_011542840.3:c.7271T>G (ATM) | XP_011541142.1:p.Val2424Gly | |
| XM_011542842.3:c.7106T>G (ATM) | XP_011541144.1:p.Val2369Gly | |
| XM_011542843.2:c.7271T>G (ATM) | XP_011541145.1:p.Val2424Gly | |
| XM_011542844.3:c.6227T>G (ATM) | XP_011541146.1:p.Val2076Gly | |
| XM_011542845.2:c.5963T>G (ATM) | XP_011541147.1:p.Val1988Gly | |
| XM_017017789.2:c.7271T>G (ATM) | XP_016873278.1:p.Val2424Gly | |
| XM_017017790.2:c.7271T>G (ATM) | XP_016873279.1:p.Val2424Gly | |
| NM_001330368.2:c.641-20131A>C (C11orf65) | NP_001317297.1:n.641-20131A>C | |
| NM_001351110.2:c.*38+6018A>C (C11orf65) | NP_001338039.1:n.*38+6018A>C | |
| NM_001351834.2:c.7271T>G (ATM) | NP_001338763.1:p.Val2424Gly | |
| NM_000051.4:c.7271T>G (ATM) MANE Select | NP_000042.3:p.Val2424Gly |