Canonical Allele Identifier: CA197400

Gene: ATM

Linked Data

• ClinVar Variation Id: 187342
• ClinVar RCV Id: RCV000167061 ; RCV000557551 ; RCV000679107
• dbSNP Id: rs3218688
• ExAC: 11:108139322 C / T
• gnomAD v2: 11-108139322-C-T
• gnomAD v3: 11-108268595-C-T
• gnomAD v4: 11-108268595-C-T
• MyVariant Identifiers: chr11:g.108139322C>T (hg19) ; chr11:g.108268595C>T (hg38)
• PubMed: PMID:19781682 ; PMID:22529920

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268595C>T , CM000673.2:g.108268595C>T	GRCh38
NC_000011.9:g.108139322C>T , CM000673.1:g.108139322C>T	GRCh37
NC_000011.8:g.107644532C>T	NCBI36
NG_009830.1:g.50764C>T , LRG_135:g.50764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2824C>T	ENSP00000388058.2:p.Leu942Phe
ENST00000713593.1:c.*2295C>T	ENSP00000518889.1:n.*2295C>T
ENST00000278616.9:c.2824C>T	ENSP00000278616.4:p.Leu942Phe
ENST00000682516.1:n.2772+1253C>T
ENST00000683174.1:n.2974C>T
ENST00000684037.1:c.*1573+1253C>T	ENSP00000508245.1:n.*1573+1253C>T
ENST00000527805.6:c.2824C>T	ENSP00000435747.2:p.Leu942Phe
ENST00000675595.1:c.2659C>T	ENSP00000502563.1:p.Leu887Phe
ENST00000675843.1:c.2824C>T MANE Select	ENSP00000501606.1:p.Leu942Phe
ENST00000278616.8:c.2824C>T	ENSP00000278616.4:p.Leu942Phe
ENST00000419286.2:n.186C>T
ENST00000452508.6:c.2824C>T	ENSP00000388058.2:p.Leu942Phe
ENST00000527805.5:c.2824C>T	ENSP00000435747.1:p.Leu942Phe
NM_000051.3:c.2824C>T , LRG_135t1:c.2824C>T	NP_000042.3:p.Leu942Phe
XM_005271561.3:c.2824C>T	XP_005271618.2:p.Leu942Phe
XM_005271562.3:c.2824C>T	XP_005271619.2:p.Leu942Phe
XM_006718843.2:c.2824C>T	XP_006718906.1:p.Leu942Phe
XM_011542840.1:c.2824C>T	XP_011541142.1:p.Leu942Phe
XM_011542841.1:c.2824C>T	XP_011541143.1:p.Leu942Phe
XM_011542842.1:c.2659C>T	XP_011541144.1:p.Leu887Phe
XM_011542843.1:c.2824C>T	XP_011541145.1:p.Leu942Phe
XM_011542844.1:c.1780C>T	XP_011541146.1:p.Leu594Phe
XM_011542845.1:c.1516C>T	XP_011541147.1:p.Leu506Phe
XM_011542846.1:c.2824C>T	XP_011541148.1:p.Leu942Phe
NM_001351834.1:c.2824C>T	NP_001338763.1:p.Leu942Phe
XM_005271562.5:c.2824C>T	XP_005271619.2:p.Leu942Phe
XM_006718843.4:c.2824C>T	XP_006718906.1:p.Leu942Phe
XM_011542840.3:c.2824C>T	XP_011541142.1:p.Leu942Phe
XM_011542842.3:c.2659C>T	XP_011541144.1:p.Leu887Phe
XM_011542843.2:c.2824C>T	XP_011541145.1:p.Leu942Phe
XM_011542844.3:c.1780C>T	XP_011541146.1:p.Leu594Phe
XM_011542845.2:c.1516C>T	XP_011541147.1:p.Leu506Phe
XM_017017789.2:c.2824C>T	XP_016873278.1:p.Leu942Phe
XM_017017790.2:c.2824C>T	XP_016873279.1:p.Leu942Phe
XM_017017791.1:c.2824C>T	XP_016873280.1:p.Leu942Phe
XM_017017792.2:c.2824C>T	XP_016873281.1:p.Leu942Phe
XR_002957150.1:n.3557C>T
NM_001351834.2:c.2824C>T	NP_001338763.1:p.Leu942Phe
NM_000051.4:c.2824C>T MANE Select	NP_000042.3:p.Leu942Phe