Linked Data
ClinVar Variation Id:
127466
ClinVar RCV Id:
RCV000115272
RCV000212095
RCV000200530
RCV003330438
RCV001358118
RCV002271407
RCV003467036
dbSNP Id:
rs1800558
ExAC:
11:108235926 G / A
gnomAD v2:
11-108235926-G-A
gnomAD v3:
11-108365199-G-A
gnomAD v4:
11-108365199-G-A
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108365199G>A , CM000673.2:g.108365199G>A | GRCh38 |
| NC_000011.9:g.108235926G>A , CM000673.1:g.108235926G>A | GRCh37 |
| NC_000011.8:g.107741136G>A | NCBI36 |
| NG_009830.1:g.147368G>A , LRG_135:g.147368G>A | |
| NG_054724.1:g.109634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8968G>A (ATM) | ENSP00000388058.2:p.Glu2990Lys | |
| ENST00000713593.1:c.*8439G>A (ATM) | ENSP00000518889.1:n.*8439G>A | |
| ENST00000278616.9:c.8968G>A (ATM) | ENSP00000278616.4:p.Glu2990Lys | |
| ENST00000638786.2:n.1666G>A (ATM) | ||
| ENST00000682286.1:n.3725G>A (ATM) | ||
| ENST00000682302.1:n.3386G>A (ATM) | ||
| ENST00000682569.1:n.2315G>A (ATM) | ||
| ENST00000683174.1:n.10452G>A (ATM) | ||
| ENST00000683524.1:n.4192G>A (ATM) | ||
| ENST00000684152.1:n.4384G>A (ATM) | ||
| ENST00000684180.1:n.1442G>A (ATM) | ||
| ENST00000684447.1:n.5461G>A (ATM) | ||
| ENST00000527805.6:c.*4032G>A (ATM) | ENSP00000435747.2:n.*4032G>A | |
| ENST00000675595.1:c.*4103G>A (ATM) | ENSP00000502563.1:n.*4103G>A | |
| ENST00000675843.1:c.8968G>A (ATM) MANE Select | ENSP00000501606.1:p.Glu2990Lys | |
| ENST00000278616.8:c.8968G>A (ATM) | ENSP00000278616.4:p.Glu2990Lys | |
| ENST00000452508.6:c.8968G>A (ATM) | ENSP00000388058.2:p.Glu2990Lys | |
| ENST00000524755.5:c.226+28009C>T (C11orf65) | ||
| ENST00000524792.5:n.5183G>A (ATM) | ||
| ENST00000525178.5:n.456G>A (ATM) | ||
| ENST00000525729.5:c.640+20721C>T (C11orf65) | ENSP00000433395.1:n.640+20721C>T | |
| ENST00000526725.1:n.272-24835C>T (C11orf65) | ||
| ENST00000527181.1:n.307G>A (ATM) | ||
| ENST00000527531.5:c.*2-9090C>T (C11orf65) | ENSP00000431706.1:n.*2-9090C>T | |
| ENST00000615746.4:c.*2-9090C>T (C11orf65) | ENSP00000483537.1:n.*2-9090C>T | |
| NM_000051.3:c.8968G>A , LRG_135t1:c.8968G>A (ATM) | NP_000042.3:p.Glu2990Lys | |
| XM_005271414.3:c.787+20721C>T (C11orf65) | XP_005271471.1:n.787+20721C>T | |
| XM_005271415.3:c.731+28009C>T (C11orf65) | XP_005271472.1:n.731+28009C>T | |
| XM_005271561.3:c.8968G>A (ATM) | XP_005271618.2:p.Glu2990Lys | |
| XM_005271562.3:c.8968G>A (ATM) | XP_005271619.2:p.Glu2990Lys | |
| XM_006718843.2:c.8968G>A (ATM) | XP_006718906.1:p.Glu2990Lys | |
| XM_006718845.1:c.4924G>A (ATM) | XP_006718908.1:p.Glu1642Lys | |
| XM_011542640.1:c.787+20721C>T (C11orf65) | XP_011540942.1:n.787+20721C>T | |
| XM_011542642.1:c.732-16126C>T (C11orf65) | XP_011540944.1:n.732-16126C>T | |
| XM_011542643.1:c.732-24835C>T (C11orf65) | XP_011540945.1:n.732-24835C>T | |
| XM_011542840.1:c.8968G>A (ATM) | XP_011541142.1:p.Glu2990Lys | |
| XM_011542841.1:c.8968G>A (ATM) | XP_011541143.1:p.Glu2990Lys | |
| XM_011542842.1:c.8803G>A (ATM) | XP_011541144.1:p.Glu2935Lys | |
| XM_011542844.1:c.7924G>A (ATM) | XP_011541146.1:p.Glu2642Lys | |
| XM_011542845.1:c.7660G>A (ATM) | XP_011541147.1:p.Glu2554Lys | |
| XM_011542847.1:c.4039G>A (ATM) | XP_011541149.1:p.Glu1347Lys | |
| NM_001330368.1:c.640+20721C>T (C11orf65) | NP_001317297.1:n.640+20721C>T | |
| NM_001351110.1:c.694+20721C>T (C11orf65) | NP_001338039.1:n.694+20721C>T | |
| NM_001351834.1:c.8968G>A (ATM) | NP_001338763.1:p.Glu2990Lys | |
| NR_147053.2:n.1107-9090C>T (C11orf65) | ||
| XM_005271414.4:c.787+20721C>T (C11orf65) | XP_005271471.1:n.787+20721C>T | |
| XM_005271415.4:c.731+28009C>T (C11orf65) | XP_005271472.1:n.731+28009C>T | |
| XM_005271562.5:c.8968G>A (ATM) | XP_005271619.2:p.Glu2990Lys | |
| XM_006718843.4:c.8968G>A (ATM) | XP_006718906.1:p.Glu2990Lys | |
| XM_006718845.2:c.4924G>A (ATM) | XP_006718908.1:p.Glu1642Lys | |
| XM_011542640.2:c.787+20721C>T (C11orf65) | XP_011540942.1:n.787+20721C>T | |
| XM_011542643.2:c.732-24835C>T (C11orf65) | XP_011540945.1:n.732-24835C>T | |
| XM_011542840.3:c.8968G>A (ATM) | XP_011541142.1:p.Glu2990Lys | |
| XM_011542842.3:c.8803G>A (ATM) | XP_011541144.1:p.Glu2935Lys | |
| XM_011542844.3:c.7924G>A (ATM) | XP_011541146.1:p.Glu2642Lys | |
| XM_011542845.2:c.7660G>A (ATM) | XP_011541147.1:p.Glu2554Lys | |
| XM_017017247.1:c.903+17861C>T (C11orf65) | XP_016872736.1:n.903+17861C>T | |
| XM_017017789.2:c.8968G>A (ATM) | XP_016873278.1:p.Glu2990Lys | |
| XM_017017790.2:c.8968G>A (ATM) | XP_016873279.1:p.Glu2990Lys | |
| NM_001330368.2:c.640+20721C>T (C11orf65) | NP_001317297.1:n.640+20721C>T | |
| NM_001351110.2:c.694+20721C>T (C11orf65) | NP_001338039.1:n.694+20721C>T | |
| NM_001351834.2:c.8968G>A (ATM) | NP_001338763.1:p.Glu2990Lys | |
| NM_000051.4:c.8968G>A (ATM) MANE Select | NP_000042.3:p.Glu2990Lys | |
| NR_147053.3:n.1105-9090C>T (C11orf65) |