Canonical Allele Identifier: CA10579183

Gene: ATM

Linked Data

• ClinVar Variation Id: 233538
• ClinVar RCV Id: RCV000215343 ; RCV000533648 ; RCV000486930
• dbSNP Id: rs876660472
• gnomAD v4: 11-108304687-T-G
• MyVariant Identifiers: chr11:g.108175414T>G (hg19) ; chr11:g.108304687T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304687T>G , CM000673.2:g.108304687T>G	GRCh38
NC_000011.9:g.108175414T>G , CM000673.1:g.108175414T>G	GRCh37
NC_000011.8:g.107680624T>G	NCBI36
NG_009830.1:g.86856T>G , LRG_135:g.86856T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5509T>G	ENSP00000388058.2:p.Phe1837Val
ENST00000713593.1:c.*4980T>G	ENSP00000518889.1:n.*4980T>G
ENST00000278616.9:c.5509T>G	ENSP00000278616.4:p.Phe1837Val
ENST00000683174.1:n.6993T>G
ENST00000683524.1:n.733T>G
ENST00000684152.1:n.1223T>G
ENST00000527805.6:c.*573T>G	ENSP00000435747.2:n.*573T>G
ENST00000675595.1:c.*573T>G	ENSP00000502563.1:n.*573T>G
ENST00000675843.1:c.5509T>G MANE Select	ENSP00000501606.1:p.Phe1837Val
ENST00000278616.8:c.5509T>G	ENSP00000278616.4:p.Phe1837Val
ENST00000452508.6:c.5509T>G	ENSP00000388058.2:p.Phe1837Val
ENST00000524792.5:n.1724T>G
ENST00000529588.5:c.21T>G
ENST00000533690.5:n.913T>G
NM_000051.3:c.5509T>G , LRG_135t1:c.5509T>G	NP_000042.3:p.Phe1837Val
XM_005271561.3:c.5509T>G	XP_005271618.2:p.Phe1837Val
XM_005271562.3:c.5509T>G	XP_005271619.2:p.Phe1837Val
XM_006718843.2:c.5509T>G	XP_006718906.1:p.Phe1837Val
XM_006718845.1:c.1465T>G	XP_006718908.1:p.Phe489Val
XM_011542840.1:c.5509T>G	XP_011541142.1:p.Phe1837Val
XM_011542841.1:c.5509T>G	XP_011541143.1:p.Phe1837Val
XM_011542842.1:c.5344T>G	XP_011541144.1:p.Phe1782Val
XM_011542843.1:c.5509T>G	XP_011541145.1:p.Phe1837Val
XM_011542844.1:c.4465T>G	XP_011541146.1:p.Phe1489Val
XM_011542845.1:c.4201T>G	XP_011541147.1:p.Phe1401Val
XM_011542847.1:c.580T>G	XP_011541149.1:p.Phe194Val
NM_001351834.1:c.5509T>G	NP_001338763.1:p.Phe1837Val
XM_005271562.5:c.5509T>G	XP_005271619.2:p.Phe1837Val
XM_006718843.4:c.5509T>G	XP_006718906.1:p.Phe1837Val
XM_006718845.2:c.1465T>G	XP_006718908.1:p.Phe489Val
XM_011542840.3:c.5509T>G	XP_011541142.1:p.Phe1837Val
XM_011542842.3:c.5344T>G	XP_011541144.1:p.Phe1782Val
XM_011542843.2:c.5509T>G	XP_011541145.1:p.Phe1837Val
XM_011542844.3:c.4465T>G	XP_011541146.1:p.Phe1489Val
XM_011542845.2:c.4201T>G	XP_011541147.1:p.Phe1401Val
XM_017017789.2:c.5509T>G	XP_016873278.1:p.Phe1837Val
XM_017017790.2:c.5509T>G	XP_016873279.1:p.Phe1837Val
XM_017017791.1:c.5509T>G	XP_016873280.1:p.Phe1837Val
XR_002957150.1:n.6109T>G
NM_001351834.2:c.5509T>G	NP_001338763.1:p.Phe1837Val
NM_000051.4:c.5509T>G MANE Select	NP_000042.3:p.Phe1837Val