Canonical Allele Identifier: CA6265441

Gene: ATM

Linked Data

• ClinVar Variation Id: 236716
• ClinVar RCV Id: RCV000227538 ; RCV000445657 ; RCV000657608 ; RCV000762821 ; RCV001356094 ; RCV003165589 ; RCV003463629
• dbSNP Id: rs730881369
• ExAC: 11:108160488 C / T
• gnomAD v2: 11-108160488-C-T
• gnomAD v4: 11-108289761-C-T
• COSMIC: COSM171676 ; COSM3786967
• MyVariant Identifiers: chr11:g.108160488C>T (hg19) ; chr11:g.108289761C>T (hg38)
• PubMed: PMID:10425038 ; PMID:12552559 ; PMID:17910737 ; PMID:18431795 ; PMID:19691550 ; PMID:22213089 ; PMID:22527104 ; PMID:23454770 ; PMID:24405665 ; PMID:24935205 ; PMID:26439923

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289761C>T , CM000673.2:g.108289761C>T	GRCh38
NC_000011.9:g.108160488C>T , CM000673.1:g.108160488C>T	GRCh37
NC_000011.8:g.107665698C>T	NCBI36
NG_009830.1:g.71930C>T , LRG_135:g.71930C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4396C>T	ENSP00000388058.2:p.Arg1466Ter
ENST00000713593.1:c.*3867C>T	ENSP00000518889.1:n.*3867C>T
ENST00000278616.9:c.4396C>T	ENSP00000278616.4:p.Arg1466Ter
ENST00000533733.6:n.1659C>T
ENST00000683174.1:n.4546C>T
ENST00000527805.6:c.4396C>T	ENSP00000435747.2:p.Arg1466Ter
ENST00000675595.1:c.4231C>T	ENSP00000502563.1:p.Arg1411Ter
ENST00000675843.1:c.4396C>T MANE Select	ENSP00000501606.1:p.Arg1466Ter
ENST00000278616.8:c.4396C>T	ENSP00000278616.4:p.Arg1466Ter
ENST00000452508.6:c.4396C>T	ENSP00000388058.2:p.Arg1466Ter
ENST00000524792.5:n.611C>T
ENST00000531525.2:c.403C>T	ENSP00000434327.2:p.Arg135Ter
ENST00000533733.5:n.825C>T
NM_000051.3:c.4396C>T , LRG_135t1:c.4396C>T	NP_000042.3:p.Arg1466Ter
XM_005271561.3:c.4396C>T	XP_005271618.2:p.Arg1466Ter
XM_005271562.3:c.4396C>T	XP_005271619.2:p.Arg1466Ter
XM_006718843.2:c.4396C>T	XP_006718906.1:p.Arg1466Ter
XM_006718845.1:c.352C>T	XP_006718908.1:p.Arg118Ter
XM_011542840.1:c.4396C>T	XP_011541142.1:p.Arg1466Ter
XM_011542841.1:c.4396C>T	XP_011541143.1:p.Arg1466Ter
XM_011542842.1:c.4231C>T	XP_011541144.1:p.Arg1411Ter
XM_011542843.1:c.4396C>T	XP_011541145.1:p.Arg1466Ter
XM_011542844.1:c.3352C>T	XP_011541146.1:p.Arg1118Ter
XM_011542845.1:c.3088C>T	XP_011541147.1:p.Arg1030Ter
XM_011542846.1:c.4396C>T	XP_011541148.1:p.Arg1466Ter
NM_001351834.1:c.4396C>T	NP_001338763.1:p.Arg1466Ter
XM_005271562.5:c.4396C>T	XP_005271619.2:p.Arg1466Ter
XM_006718843.4:c.4396C>T	XP_006718906.1:p.Arg1466Ter
XM_006718845.2:c.352C>T	XP_006718908.1:p.Arg118Ter
XM_011542840.3:c.4396C>T	XP_011541142.1:p.Arg1466Ter
XM_011542842.3:c.4231C>T	XP_011541144.1:p.Arg1411Ter
XM_011542843.2:c.4396C>T	XP_011541145.1:p.Arg1466Ter
XM_011542844.3:c.3352C>T	XP_011541146.1:p.Arg1118Ter
XM_011542845.2:c.3088C>T	XP_011541147.1:p.Arg1030Ter
XM_017017789.2:c.4396C>T	XP_016873278.1:p.Arg1466Ter
XM_017017790.2:c.4396C>T	XP_016873279.1:p.Arg1466Ter
XM_017017791.1:c.4396C>T	XP_016873280.1:p.Arg1466Ter
XM_017017792.2:c.4396C>T	XP_016873281.1:p.Arg1466Ter
XR_002957150.1:n.5129C>T
NM_001351834.2:c.4396C>T	NP_001338763.1:p.Arg1466Ter
NM_000051.4:c.4396C>T MANE Select	NP_000042.3:p.Arg1466Ter