Linked Data
ClinVar Variation Id:
127414
ClinVar RCV Id:
RCV000115219
RCV000205725
RCV000212035
RCV000515323
RCV001270929
RCV001310112
RCV001258122
RCV004549559
dbSNP Id:
rs587779852
ExAC:
11:108183151 G / T
gnomAD v2:
11-108183151-G-T
gnomAD v3:
11-108312424-G-T
gnomAD v4:
11-108312424-G-T
COSMIC:
COSM1235424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108312424G>T , CM000673.2:g.108312424G>T | GRCh38 |
| NC_000011.9:g.108183151G>T , CM000673.1:g.108183151G>T | GRCh37 |
| NC_000011.8:g.107688361G>T | NCBI36 |
| NG_009830.1:g.94593G>T , LRG_135:g.94593G>T | |
| NG_054724.1:g.162409C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5932G>T (ATM) | ENSP00000388058.2:p.Glu1978Ter | |
| ENST00000713593.1:c.*5403G>T (ATM) | ENSP00000518889.1:n.*5403G>T | |
| ENST00000278616.9:c.5932G>T (ATM) | ENSP00000278616.4:p.Glu1978Ter | |
| ENST00000525056.2:n.351G>T (ATM) | ||
| ENST00000682286.1:n.689G>T (ATM) | ||
| ENST00000682302.1:n.350G>T (ATM) | ||
| ENST00000683174.1:n.7416G>T (ATM) | ||
| ENST00000683524.1:n.1156G>T (ATM) | ||
| ENST00000684152.1:n.1646G>T (ATM) | ||
| ENST00000527805.6:c.*996G>T (ATM) | ENSP00000435747.2:n.*996G>T | |
| ENST00000675595.1:c.*996G>T (ATM) | ENSP00000502563.1:n.*996G>T | |
| ENST00000675843.1:c.5932G>T (ATM) MANE Select | ENSP00000501606.1:p.Glu1978Ter | |
| ENST00000278616.8:c.5932G>T (ATM) | ENSP00000278616.4:p.Glu1978Ter | |
| ENST00000452508.6:c.5932G>T (ATM) | ENSP00000388058.2:p.Glu1978Ter | |
| ENST00000524792.5:n.2147G>T (ATM) | ||
| ENST00000525729.5:c.641-3353C>A (C11orf65) | ENSP00000433395.1:n.641-3353C>A | |
| ENST00000529588.5:c.356G>T (ATM) | ||
| ENST00000532765.1:n.249G>T (ATM) | ||
| ENST00000533690.5:n.1336G>T (ATM) | ||
| NM_000051.3:c.5932G>T , LRG_135t1:c.5932G>T (ATM) | NP_000042.3:p.Glu1978Ter | |
| XM_005271561.3:c.5932G>T (ATM) | XP_005271618.2:p.Glu1978Ter | |
| XM_005271562.3:c.5932G>T (ATM) | XP_005271619.2:p.Glu1978Ter | |
| XM_006718843.2:c.5932G>T (ATM) | XP_006718906.1:p.Glu1978Ter | |
| XM_006718845.1:c.1888G>T (ATM) | XP_006718908.1:p.Glu630Ter | |
| XM_011542840.1:c.5932G>T (ATM) | XP_011541142.1:p.Glu1978Ter | |
| XM_011542841.1:c.5932G>T (ATM) | XP_011541143.1:p.Glu1978Ter | |
| XM_011542842.1:c.5767G>T (ATM) | XP_011541144.1:p.Glu1923Ter | |
| XM_011542843.1:c.5932G>T (ATM) | XP_011541145.1:p.Glu1978Ter | |
| XM_011542844.1:c.4888G>T (ATM) | XP_011541146.1:p.Glu1630Ter | |
| XM_011542845.1:c.4624G>T (ATM) | XP_011541147.1:p.Glu1542Ter | |
| XM_011542847.1:c.1003G>T (ATM) | XP_011541149.1:p.Glu335Ter | |
| NM_001330368.1:c.641-3353C>A (C11orf65) | NP_001317297.1:n.641-3353C>A | |
| NM_001351110.1:c.*39-3353C>A (C11orf65) | NP_001338039.1:n.*39-3353C>A | |
| NM_001351834.1:c.5932G>T (ATM) | NP_001338763.1:p.Glu1978Ter | |
| XM_005271562.5:c.5932G>T (ATM) | XP_005271619.2:p.Glu1978Ter | |
| XM_006718843.4:c.5932G>T (ATM) | XP_006718906.1:p.Glu1978Ter | |
| XM_006718845.2:c.1888G>T (ATM) | XP_006718908.1:p.Glu630Ter | |
| XM_011542840.3:c.5932G>T (ATM) | XP_011541142.1:p.Glu1978Ter | |
| XM_011542842.3:c.5767G>T (ATM) | XP_011541144.1:p.Glu1923Ter | |
| XM_011542843.2:c.5932G>T (ATM) | XP_011541145.1:p.Glu1978Ter | |
| XM_011542844.3:c.4888G>T (ATM) | XP_011541146.1:p.Glu1630Ter | |
| XM_011542845.2:c.4624G>T (ATM) | XP_011541147.1:p.Glu1542Ter | |
| XM_017017789.2:c.5932G>T (ATM) | XP_016873278.1:p.Glu1978Ter | |
| XM_017017790.2:c.5932G>T (ATM) | XP_016873279.1:p.Glu1978Ter | |
| XM_017017791.1:c.5932G>T (ATM) | XP_016873280.1:p.Glu1978Ter | |
| XR_002957150.1:n.6532G>T (ATM) | ||
| NM_001330368.2:c.641-3353C>A (C11orf65) | NP_001317297.1:n.641-3353C>A | |
| NM_001351110.2:c.*39-3353C>A (C11orf65) | NP_001338039.1:n.*39-3353C>A | |
| NM_001351834.2:c.5932G>T (ATM) | NP_001338763.1:p.Glu1978Ter | |
| NM_000051.4:c.5932G>T (ATM) MANE Select | NP_000042.3:p.Glu1978Ter |