Linked Data
ClinVar Variation Id:
133631
ClinVar RCV Id:
RCV000120156
RCV000128891
RCV000224405
RCV001357692
RCV002221490
RCV001798379
RCV002225365
RCV001080466
RCV002483213
dbSNP Id:
rs4988111
ExAC:
11:108198391 T / C
gnomAD v2:
11-108198391-T-C
gnomAD v3:
11-108327664-T-C
gnomAD v4:
11-108327664-T-C
MyVariant Identifiers:
chr11:g.108198391T>C (hg19)
chr11:g.108198391_108198395delinsCTACA (hg19)
chr11:g.108327664T>C (hg38)
ERepo:
CA157165/MONDO:0016419/020
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108327664T>C , CM000673.2:g.108327664T>C | GRCh38 |
| NC_000011.9:g.108198391T>C , CM000673.1:g.108198391T>C | GRCh37 |
| NC_000011.8:g.107703601T>C | NCBI36 |
| NG_009830.1:g.109833T>C , LRG_135:g.109833T>C | |
| NG_054724.1:g.147169A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6995T>C (ATM) | ENSP00000388058.2:p.Leu2332Pro | |
| ENST00000713593.1:c.*6466T>C (ATM) | ENSP00000518889.1:n.*6466T>C | |
| ENST00000278616.9:c.6995T>C (ATM) | ENSP00000278616.4:p.Leu2332Pro | |
| ENST00000525056.2:n.1414T>C (ATM) | ||
| ENST00000682286.1:n.1752T>C (ATM) | ||
| ENST00000682302.1:n.1413T>C (ATM) | ||
| ENST00000683174.1:n.8479T>C (ATM) | ||
| ENST00000683524.1:n.2219T>C (ATM) | ||
| ENST00000684152.1:n.2709T>C (ATM) | ||
| ENST00000684447.1:n.1458T>C (ATM) | ||
| ENST00000527805.6:c.*2059T>C (ATM) | ENSP00000435747.2:n.*2059T>C | |
| ENST00000675595.1:c.*2130T>C (ATM) | ENSP00000502563.1:n.*2130T>C | |
| ENST00000675843.1:c.6995T>C (ATM) MANE Select | ENSP00000501606.1:p.Leu2332Pro | |
| ENST00000278616.8:c.6995T>C (ATM) | ENSP00000278616.4:p.Leu2332Pro | |
| ENST00000452508.6:c.6995T>C (ATM) | ENSP00000388058.2:p.Leu2332Pro | |
| ENST00000524792.5:n.3210T>C (ATM) | ||
| ENST00000525537.2:n.271T>C (ATM) | ||
| ENST00000525729.5:c.641-18593A>G (C11orf65) | ENSP00000433395.1:n.641-18593A>G | |
| ENST00000527389.2:n.20T>C (ATM) | ||
| ENST00000533690.5:n.2399T>C (ATM) | ||
| NM_000051.3:c.6995T>C , LRG_135t1:c.6995T>C (ATM) | NP_000042.3:p.Leu2332Pro | |
| XM_005271561.3:c.6995T>C (ATM) | XP_005271618.2:p.Leu2332Pro | |
| XM_005271562.3:c.6995T>C (ATM) | XP_005271619.2:p.Leu2332Pro | |
| XM_006718843.2:c.6995T>C (ATM) | XP_006718906.1:p.Leu2332Pro | |
| XM_006718845.1:c.2951T>C (ATM) | XP_006718908.1:p.Leu984Pro | |
| XM_011542840.1:c.6995T>C (ATM) | XP_011541142.1:p.Leu2332Pro | |
| XM_011542841.1:c.6995T>C (ATM) | XP_011541143.1:p.Leu2332Pro | |
| XM_011542842.1:c.6830T>C (ATM) | XP_011541144.1:p.Leu2277Pro | |
| XM_011542843.1:c.6995T>C (ATM) | XP_011541145.1:p.Leu2332Pro | |
| XM_011542844.1:c.5951T>C (ATM) | XP_011541146.1:p.Leu1984Pro | |
| XM_011542845.1:c.5687T>C (ATM) | XP_011541147.1:p.Leu1896Pro | |
| XM_011542847.1:c.2066T>C (ATM) | XP_011541149.1:p.Leu689Pro | |
| NM_001330368.1:c.641-18593A>G (C11orf65) | NP_001317297.1:n.641-18593A>G | |
| NM_001351110.1:c.*38+7556A>G (C11orf65) | NP_001338039.1:n.*38+7556A>G | |
| NM_001351834.1:c.6995T>C (ATM) | NP_001338763.1:p.Leu2332Pro | |
| XM_005271562.5:c.6995T>C (ATM) | XP_005271619.2:p.Leu2332Pro | |
| XM_006718843.4:c.6995T>C (ATM) | XP_006718906.1:p.Leu2332Pro | |
| XM_006718845.2:c.2951T>C (ATM) | XP_006718908.1:p.Leu984Pro | |
| XM_011542840.3:c.6995T>C (ATM) | XP_011541142.1:p.Leu2332Pro | |
| XM_011542842.3:c.6830T>C (ATM) | XP_011541144.1:p.Leu2277Pro | |
| XM_011542843.2:c.6995T>C (ATM) | XP_011541145.1:p.Leu2332Pro | |
| XM_011542844.3:c.5951T>C (ATM) | XP_011541146.1:p.Leu1984Pro | |
| XM_011542845.2:c.5687T>C (ATM) | XP_011541147.1:p.Leu1896Pro | |
| XM_017017789.2:c.6995T>C (ATM) | XP_016873278.1:p.Leu2332Pro | |
| XM_017017790.2:c.6995T>C (ATM) | XP_016873279.1:p.Leu2332Pro | |
| NM_001330368.2:c.641-18593A>G (C11orf65) | NP_001317297.1:n.641-18593A>G | |
| NM_001351110.2:c.*38+7556A>G (C11orf65) | NP_001338039.1:n.*38+7556A>G | |
| NM_001351834.2:c.6995T>C (ATM) | NP_001338763.1:p.Leu2332Pro | |
| NM_000051.4:c.6995T>C (ATM) MANE Select | NP_000042.3:p.Leu2332Pro |