Canonical Allele Identifier: CA382540338

Gene: ATM

Linked Data

• ClinVar Variation Id: 524249
• ClinVar RCV Id: RCV000627878
• dbSNP Id: rs587782153
• gnomAD v4: 11-108299747-C-G
• MyVariant Identifiers: chr11:g.108170474C>G (hg19) ; chr11:g.108299747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299747C>G , CM000673.2:g.108299747C>G	GRCh38
NC_000011.9:g.108170474C>G , CM000673.1:g.108170474C>G	GRCh37
NC_000011.8:g.107675684C>G	NCBI36
NG_009830.1:g.81916C>G , LRG_135:g.81916C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5039C>G	ENSP00000388058.2:p.Pro1680Arg
ENST00000713593.1:c.*4510C>G	ENSP00000518889.1:n.*4510C>G
ENST00000278616.9:c.5039C>G	ENSP00000278616.4:p.Pro1680Arg
ENST00000683174.1:n.6523C>G
ENST00000683524.1:n.263C>G
ENST00000684152.1:n.753C>G
ENST00000527805.6:c.*103C>G	ENSP00000435747.2:n.*103C>G
ENST00000675595.1:c.*103C>G	ENSP00000502563.1:n.*103C>G
ENST00000675843.1:c.5039C>G MANE Select	ENSP00000501606.1:p.Pro1680Arg
ENST00000278616.8:c.5039C>G	ENSP00000278616.4:p.Pro1680Arg
ENST00000452508.6:c.5039C>G	ENSP00000388058.2:p.Pro1680Arg
ENST00000524792.5:n.1254C>G
ENST00000533690.5:n.443C>G
ENST00000534625.1:n.268C>G
NM_000051.3:c.5039C>G , LRG_135t1:c.5039C>G	NP_000042.3:p.Pro1680Arg
XM_005271561.3:c.5039C>G	XP_005271618.2:p.Pro1680Arg
XM_005271562.3:c.5039C>G	XP_005271619.2:p.Pro1680Arg
XM_006718843.2:c.5039C>G	XP_006718906.1:p.Pro1680Arg
XM_006718845.1:c.995C>G	XP_006718908.1:p.Pro332Arg
XM_011542840.1:c.5039C>G	XP_011541142.1:p.Pro1680Arg
XM_011542841.1:c.5039C>G	XP_011541143.1:p.Pro1680Arg
XM_011542842.1:c.4874C>G	XP_011541144.1:p.Pro1625Arg
XM_011542843.1:c.5039C>G	XP_011541145.1:p.Pro1680Arg
XM_011542844.1:c.3995C>G	XP_011541146.1:p.Pro1332Arg
XM_011542845.1:c.3731C>G	XP_011541147.1:p.Pro1244Arg
XM_011542846.1:c.5039C>G	XP_011541148.1:p.Pro1680Arg
XM_011542847.1:c.110C>G	XP_011541149.1:p.Pro37Arg
NM_001351834.1:c.5039C>G	NP_001338763.1:p.Pro1680Arg
XM_005271562.5:c.5039C>G	XP_005271619.2:p.Pro1680Arg
XM_006718843.4:c.5039C>G	XP_006718906.1:p.Pro1680Arg
XM_006718845.2:c.995C>G	XP_006718908.1:p.Pro332Arg
XM_011542840.3:c.5039C>G	XP_011541142.1:p.Pro1680Arg
XM_011542842.3:c.4874C>G	XP_011541144.1:p.Pro1625Arg
XM_011542843.2:c.5039C>G	XP_011541145.1:p.Pro1680Arg
XM_011542844.3:c.3995C>G	XP_011541146.1:p.Pro1332Arg
XM_011542845.2:c.3731C>G	XP_011541147.1:p.Pro1244Arg
XM_017017789.2:c.5039C>G	XP_016873278.1:p.Pro1680Arg
XM_017017790.2:c.5039C>G	XP_016873279.1:p.Pro1680Arg
XM_017017791.1:c.5039C>G	XP_016873280.1:p.Pro1680Arg
XM_017017792.2:c.5039C>G	XP_016873281.1:p.Pro1680Arg
XR_002957150.1:n.5639C>G
NM_001351834.2:c.5039C>G	NP_001338763.1:p.Pro1680Arg
NM_000051.4:c.5039C>G MANE Select	NP_000042.3:p.Pro1680Arg