Canonical Allele Identifier: CA10582828

Gene: ATM

Linked Data

• ClinVar Variation Id: 236736
• ClinVar RCV Id: RCV000233747 ; RCV001023957
• dbSNP Id: rs878853520
• gnomAD v3: 11-108302878-A-G
• gnomAD v4: 11-108302878-A-G
• MyVariant Identifiers: chr11:g.108173605A>G (hg19) ; chr11:g.108302878A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302878A>G , CM000673.2:g.108302878A>G	GRCh38
NC_000011.9:g.108173605A>G , CM000673.1:g.108173605A>G	GRCh37
NC_000011.8:g.107678815A>G	NCBI36
NG_009830.1:g.85047A>G , LRG_135:g.85047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5345A>G	ENSP00000388058.2:p.Lys1782Arg
ENST00000713593.1:c.*4816A>G	ENSP00000518889.1:n.*4816A>G
ENST00000278616.9:c.5345A>G	ENSP00000278616.4:p.Lys1782Arg
ENST00000683174.1:n.6829A>G
ENST00000683524.1:n.569A>G
ENST00000684152.1:n.1059A>G
ENST00000527805.6:c.*409A>G	ENSP00000435747.2:n.*409A>G
ENST00000675595.1:c.*409A>G	ENSP00000502563.1:n.*409A>G
ENST00000675843.1:c.5345A>G MANE Select	ENSP00000501606.1:p.Lys1782Arg
ENST00000278616.8:c.5345A>G	ENSP00000278616.4:p.Lys1782Arg
ENST00000452508.6:c.5345A>G	ENSP00000388058.2:p.Lys1782Arg
ENST00000524792.5:n.1560A>G
ENST00000533690.5:n.749A>G
ENST00000534625.1:n.574A>G
NM_000051.3:c.5345A>G , LRG_135t1:c.5345A>G	NP_000042.3:p.Lys1782Arg
XM_005271561.3:c.5345A>G	XP_005271618.2:p.Lys1782Arg
XM_005271562.3:c.5345A>G	XP_005271619.2:p.Lys1782Arg
XM_006718843.2:c.5345A>G	XP_006718906.1:p.Lys1782Arg
XM_006718845.1:c.1301A>G	XP_006718908.1:p.Lys434Arg
XM_011542840.1:c.5345A>G	XP_011541142.1:p.Lys1782Arg
XM_011542841.1:c.5345A>G	XP_011541143.1:p.Lys1782Arg
XM_011542842.1:c.5180A>G	XP_011541144.1:p.Lys1727Arg
XM_011542843.1:c.5345A>G	XP_011541145.1:p.Lys1782Arg
XM_011542844.1:c.4301A>G	XP_011541146.1:p.Lys1434Arg
XM_011542845.1:c.4037A>G	XP_011541147.1:p.Lys1346Arg
XM_011542846.1:c.*3A>G	XP_011541148.1:n.*3A>G
XM_011542847.1:c.416A>G	XP_011541149.1:p.Lys139Arg
NM_001351834.1:c.5345A>G	NP_001338763.1:p.Lys1782Arg
XM_005271562.5:c.5345A>G	XP_005271619.2:p.Lys1782Arg
XM_006718843.4:c.5345A>G	XP_006718906.1:p.Lys1782Arg
XM_006718845.2:c.1301A>G	XP_006718908.1:p.Lys434Arg
XM_011542840.3:c.5345A>G	XP_011541142.1:p.Lys1782Arg
XM_011542842.3:c.5180A>G	XP_011541144.1:p.Lys1727Arg
XM_011542843.2:c.5345A>G	XP_011541145.1:p.Lys1782Arg
XM_011542844.3:c.4301A>G	XP_011541146.1:p.Lys1434Arg
XM_011542845.2:c.4037A>G	XP_011541147.1:p.Lys1346Arg
XM_017017789.2:c.5345A>G	XP_016873278.1:p.Lys1782Arg
XM_017017790.2:c.5345A>G	XP_016873279.1:p.Lys1782Arg
XM_017017791.1:c.5345A>G	XP_016873280.1:p.Lys1782Arg
XM_017017792.2:c.*26A>G	XP_016873281.1:n.*26A>G
XR_002957150.1:n.5945A>G
NM_001351834.2:c.5345A>G	NP_001338763.1:p.Lys1782Arg
NM_000051.4:c.5345A>G MANE Select	NP_000042.3:p.Lys1782Arg