WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
1960507
ClinVar RCV Id:
RCV002715515
dbSNP Id:
rs2084024488
COSMIC:
COSM1315814
CIViC:
CA382548326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108310186A>T , CM000673.2:g.108310186A>T | GRCh38 |
| NC_000011.9:g.108180913A>T , CM000673.1:g.108180913A>T | GRCh37 |
| NC_000011.8:g.107686123A>T | NCBI36 |
| NG_009830.1:g.92355A>T , LRG_135:g.92355A>T | |
| NG_054724.1:g.164647T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5789A>T (ATM) | ENSP00000388058.2:p.Asp1930Val | |
| ENST00000713593.1:c.*5260A>T (ATM) | ENSP00000518889.1:n.*5260A>T | |
| ENST00000278616.9:c.5789A>T (ATM) | ENSP00000278616.4:p.Asp1930Val | |
| ENST00000525056.2:n.208A>T (ATM) | ||
| ENST00000682286.1:n.546A>T (ATM) | ||
| ENST00000682302.1:n.207A>T (ATM) | ||
| ENST00000683174.1:n.7273A>T (ATM) | ||
| ENST00000683524.1:n.1013A>T (ATM) | ||
| ENST00000684152.1:n.1503A>T (ATM) | ||
| ENST00000527805.6:c.*853A>T (ATM) | ENSP00000435747.2:n.*853A>T | |
| ENST00000675595.1:c.*853A>T (ATM) | ENSP00000502563.1:n.*853A>T | |
| ENST00000675843.1:c.5789A>T (ATM) MANE Select | ENSP00000501606.1:p.Asp1930Val | |
| ENST00000278616.8:c.5789A>T (ATM) | ENSP00000278616.4:p.Asp1930Val | |
| ENST00000452508.6:c.5789A>T (ATM) | ENSP00000388058.2:p.Asp1930Val | |
| ENST00000524792.5:n.2004A>T (ATM) | ||
| ENST00000525729.5:c.641-1115T>A (C11orf65) | ENSP00000433395.1:n.641-1115T>A | |
| ENST00000529588.5:c.213A>T (ATM) | ||
| ENST00000532765.1:n.106A>T (ATM) | ||
| ENST00000533690.5:n.1193A>T (ATM) | ||
| NM_000051.3:c.5789A>T , LRG_135t1:c.5789A>T (ATM) | NP_000042.3:p.Asp1930Val | |
| XM_005271561.3:c.5789A>T (ATM) | XP_005271618.2:p.Asp1930Val | |
| XM_005271562.3:c.5789A>T (ATM) | XP_005271619.2:p.Asp1930Val | |
| XM_006718843.2:c.5789A>T (ATM) | XP_006718906.1:p.Asp1930Val | |
| XM_006718845.1:c.1745A>T (ATM) | XP_006718908.1:p.Asp582Val | |
| XM_011542840.1:c.5789A>T (ATM) | XP_011541142.1:p.Asp1930Val | |
| XM_011542841.1:c.5789A>T (ATM) | XP_011541143.1:p.Asp1930Val | |
| XM_011542842.1:c.5624A>T (ATM) | XP_011541144.1:p.Asp1875Val | |
| XM_011542843.1:c.5789A>T (ATM) | XP_011541145.1:p.Asp1930Val | |
| XM_011542844.1:c.4745A>T (ATM) | XP_011541146.1:p.Asp1582Val | |
| XM_011542845.1:c.4481A>T (ATM) | XP_011541147.1:p.Asp1494Val | |
| XM_011542847.1:c.860A>T (ATM) | XP_011541149.1:p.Asp287Val | |
| NM_001330368.1:c.641-1115T>A (C11orf65) | NP_001317297.1:n.641-1115T>A | |
| NM_001351110.1:c.*39-1115T>A (C11orf65) | NP_001338039.1:n.*39-1115T>A | |
| NM_001351834.1:c.5789A>T (ATM) | NP_001338763.1:p.Asp1930Val | |
| XM_005271562.5:c.5789A>T (ATM) | XP_005271619.2:p.Asp1930Val | |
| XM_006718843.4:c.5789A>T (ATM) | XP_006718906.1:p.Asp1930Val | |
| XM_006718845.2:c.1745A>T (ATM) | XP_006718908.1:p.Asp582Val | |
| XM_011542840.3:c.5789A>T (ATM) | XP_011541142.1:p.Asp1930Val | |
| XM_011542842.3:c.5624A>T (ATM) | XP_011541144.1:p.Asp1875Val | |
| XM_011542843.2:c.5789A>T (ATM) | XP_011541145.1:p.Asp1930Val | |
| XM_011542844.3:c.4745A>T (ATM) | XP_011541146.1:p.Asp1582Val | |
| XM_011542845.2:c.4481A>T (ATM) | XP_011541147.1:p.Asp1494Val | |
| XM_017017789.2:c.5789A>T (ATM) | XP_016873278.1:p.Asp1930Val | |
| XM_017017790.2:c.5789A>T (ATM) | XP_016873279.1:p.Asp1930Val | |
| XM_017017791.1:c.5789A>T (ATM) | XP_016873280.1:p.Asp1930Val | |
| XR_002957150.1:n.6389A>T (ATM) | ||
| NM_001330368.2:c.641-1115T>A (C11orf65) | NP_001317297.1:n.641-1115T>A | |
| NM_001351110.2:c.*39-1115T>A (C11orf65) | NP_001338039.1:n.*39-1115T>A | |
| NM_001351834.2:c.5789A>T (ATM) | NP_001338763.1:p.Asp1930Val | |
| NM_000051.4:c.5789A>T (ATM) MANE Select | NP_000042.3:p.Asp1930Val |