Canonical Allele Identifier: CA6264669

Gene: ATM

Linked Data

• ClinVar Variation Id: 489583
• ClinVar RCV Id: RCV000579568
• dbSNP Id: rs587782229
• ExAC: 11:108115544 A / C
• gnomAD v2: 11-108115544-A-C
• gnomAD v4: 11-108244817-A-C
• MyVariant Identifiers: chr11:g.108115544A>C (hg19) ; chr11:g.108115544_108115549delinsCTATCT (hg19) ; chr11:g.108244817A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244817A>C , CM000673.2:g.108244817A>C	GRCh38
NC_000011.9:g.108115544A>C , CM000673.1:g.108115544A>C	GRCh37
NC_000011.8:g.107620754A>C	NCBI36
NG_009830.1:g.26986A>C , LRG_135:g.26986A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.692A>C	ENSP00000388058.2:p.His231Pro
ENST00000713593.1:c.*163A>C	ENSP00000518889.1:n.*163A>C
ENST00000278616.9:c.692A>C	ENSP00000278616.4:p.His231Pro
ENST00000682430.1:n.791A>C
ENST00000682516.1:n.826A>C
ENST00000682956.1:n.826A>C
ENST00000683100.1:n.3039A>C
ENST00000683174.1:n.842A>C
ENST00000683605.1:n.187A>C
ENST00000684037.1:c.692A>C	ENSP00000508245.1:p.His231Pro
ENST00000684061.1:n.826A>C
ENST00000684179.1:n.661A>C
ENST00000527805.6:c.692A>C	ENSP00000435747.2:p.His231Pro
ENST00000675595.1:c.527A>C	ENSP00000502563.1:p.His176Pro
ENST00000675843.1:c.692A>C MANE Select	ENSP00000501606.1:p.His231Pro
ENST00000278616.8:c.692A>C	ENSP00000278616.4:p.His231Pro
ENST00000452508.6:c.692A>C	ENSP00000388058.2:p.His231Pro
ENST00000527805.5:c.692A>C	ENSP00000435747.1:p.His231Pro
NM_000051.3:c.692A>C , LRG_135t1:c.692A>C	NP_000042.3:p.His231Pro
XM_005271561.3:c.692A>C	XP_005271618.2:p.His231Pro
XM_005271562.3:c.692A>C	XP_005271619.2:p.His231Pro
XM_006718843.2:c.692A>C	XP_006718906.1:p.His231Pro
XM_011542840.1:c.692A>C	XP_011541142.1:p.His231Pro
XM_011542841.1:c.692A>C	XP_011541143.1:p.His231Pro
XM_011542842.1:c.527A>C	XP_011541144.1:p.His176Pro
XM_011542843.1:c.692A>C	XP_011541145.1:p.His231Pro
XM_011542844.1:c.-353A>C	XP_011541146.1:n.-353A>C
XM_011542846.1:c.692A>C	XP_011541148.1:p.His231Pro
NM_001351834.1:c.692A>C	NP_001338763.1:p.His231Pro
XM_005271562.5:c.692A>C	XP_005271619.2:p.His231Pro
XM_006718843.4:c.692A>C	XP_006718906.1:p.His231Pro
XM_011542840.3:c.692A>C	XP_011541142.1:p.His231Pro
XM_011542842.3:c.527A>C	XP_011541144.1:p.His176Pro
XM_011542843.2:c.692A>C	XP_011541145.1:p.His231Pro
XM_011542844.3:c.-353A>C	XP_011541146.1:n.-353A>C
XM_017017789.2:c.692A>C	XP_016873278.1:p.His231Pro
XM_017017790.2:c.692A>C	XP_016873279.1:p.His231Pro
XM_017017791.1:c.692A>C	XP_016873280.1:p.His231Pro
XM_017017792.2:c.692A>C	XP_016873281.1:p.His231Pro
XR_002957150.1:n.1425A>C
NM_001351834.2:c.692A>C	NP_001338763.1:p.His231Pro
NM_000051.4:c.692A>C MANE Select	NP_000042.3:p.His231Pro