Canonical Allele Identifier: CA382534647

Gene: ATM

Linked Data

• ClinVar Variation Id: 2823337
• ClinVar RCV Id: RCV003606341
• gnomAD v4: 11-108293350-A-G
• MyVariant Identifiers: chr11:g.108164077A>G (hg19) ; chr11:g.108293350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108293350A>G , CM000673.2:g.108293350A>G	GRCh38
NC_000011.9:g.108164077A>G , CM000673.1:g.108164077A>G	GRCh37
NC_000011.8:g.107669287A>G	NCBI36
NG_009830.1:g.75519A>G , LRG_135:g.75519A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4649A>G	ENSP00000388058.2:p.Lys1550Arg
ENST00000713593.1:c.*4120A>G	ENSP00000518889.1:n.*4120A>G
ENST00000278616.9:c.4649A>G	ENSP00000278616.4:p.Lys1550Arg
ENST00000683174.1:n.4799A>G
ENST00000683524.1:n.6A>G
ENST00000527805.6:c.4611+557A>G	ENSP00000435747.2:n.4611+557A>G
ENST00000675595.1:c.4484A>G	ENSP00000502563.1:p.Lys1495Arg
ENST00000675843.1:c.4649A>G MANE Select	ENSP00000501606.1:p.Lys1550Arg
ENST00000278616.8:c.4649A>G	ENSP00000278616.4:p.Lys1550Arg
ENST00000452508.6:c.4649A>G	ENSP00000388058.2:p.Lys1550Arg
ENST00000524792.5:n.864A>G
ENST00000531525.2:c.444-1577A>G	ENSP00000434327.2:n.444-1577A>G
NM_000051.3:c.4649A>G , LRG_135t1:c.4649A>G	NP_000042.3:p.Lys1550Arg
XM_005271561.3:c.4649A>G	XP_005271618.2:p.Lys1550Arg
XM_005271562.3:c.4649A>G	XP_005271619.2:p.Lys1550Arg
XM_006718843.2:c.4649A>G	XP_006718906.1:p.Lys1550Arg
XM_006718845.1:c.605A>G	XP_006718908.1:p.Lys202Arg
XM_011542840.1:c.4649A>G	XP_011541142.1:p.Lys1550Arg
XM_011542841.1:c.4649A>G	XP_011541143.1:p.Lys1550Arg
XM_011542842.1:c.4484A>G	XP_011541144.1:p.Lys1495Arg
XM_011542843.1:c.4649A>G	XP_011541145.1:p.Lys1550Arg
XM_011542844.1:c.3605A>G	XP_011541146.1:p.Lys1202Arg
XM_011542845.1:c.3341A>G	XP_011541147.1:p.Lys1114Arg
XM_011542846.1:c.4649A>G	XP_011541148.1:p.Lys1550Arg
NM_001351834.1:c.4649A>G	NP_001338763.1:p.Lys1550Arg
XM_005271562.5:c.4649A>G	XP_005271619.2:p.Lys1550Arg
XM_006718843.4:c.4649A>G	XP_006718906.1:p.Lys1550Arg
XM_006718845.2:c.605A>G	XP_006718908.1:p.Lys202Arg
XM_011542840.3:c.4649A>G	XP_011541142.1:p.Lys1550Arg
XM_011542842.3:c.4484A>G	XP_011541144.1:p.Lys1495Arg
XM_011542843.2:c.4649A>G	XP_011541145.1:p.Lys1550Arg
XM_011542844.3:c.3605A>G	XP_011541146.1:p.Lys1202Arg
XM_011542845.2:c.3341A>G	XP_011541147.1:p.Lys1114Arg
XM_017017789.2:c.4649A>G	XP_016873278.1:p.Lys1550Arg
XM_017017790.2:c.4649A>G	XP_016873279.1:p.Lys1550Arg
XM_017017791.1:c.4649A>G	XP_016873280.1:p.Lys1550Arg
XM_017017792.2:c.4649A>G	XP_016873281.1:p.Lys1550Arg
XR_002957150.1:n.5382A>G
NM_001351834.2:c.4649A>G	NP_001338763.1:p.Lys1550Arg
NM_000051.4:c.4649A>G MANE Select	NP_000042.3:p.Lys1550Arg