Canonical Allele Identifier: CA115949

Gene: ATM

Linked Data

• ClinVar Variation Id: 3042
• ClinVar RCV Id: RCV000003183 ; RCV000814605 ; RCV003155908 ; RCV003362659
• dbSNP Id: rs121434223
• COSMIC: COSM21881
• MyVariant Identifiers: chr11:g.108172506C>G (hg19) ; chr11:g.108301779C>G (hg38)
• PubMed: PMID:9334731

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301779C>G , CM000673.2:g.108301779C>G	GRCh38
NC_000011.9:g.108172506C>G , CM000673.1:g.108172506C>G	GRCh37
NC_000011.8:g.107677716C>G	NCBI36
NG_009830.1:g.83948C>G , LRG_135:g.83948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5309C>G	ENSP00000388058.2:p.Ser1770Ter
ENST00000713593.1:c.*4780C>G	ENSP00000518889.1:n.*4780C>G
ENST00000278616.9:c.5309C>G	ENSP00000278616.4:p.Ser1770Ter
ENST00000683174.1:n.6793C>G
ENST00000683524.1:n.533C>G
ENST00000684152.1:n.1023C>G
ENST00000527805.6:c.*373C>G	ENSP00000435747.2:n.*373C>G
ENST00000675595.1:c.*373C>G	ENSP00000502563.1:n.*373C>G
ENST00000675843.1:c.5309C>G MANE Select	ENSP00000501606.1:p.Ser1770Ter
ENST00000278616.8:c.5309C>G	ENSP00000278616.4:p.Ser1770Ter
ENST00000452508.6:c.5309C>G	ENSP00000388058.2:p.Ser1770Ter
ENST00000524792.5:n.1524C>G
ENST00000533690.5:n.713C>G
ENST00000534625.1:n.538C>G
NM_000051.3:c.5309C>G , LRG_135t1:c.5309C>G	NP_000042.3:p.Ser1770Ter
XM_005271561.3:c.5309C>G	XP_005271618.2:p.Ser1770Ter
XM_005271562.3:c.5309C>G	XP_005271619.2:p.Ser1770Ter
XM_006718843.2:c.5309C>G	XP_006718906.1:p.Ser1770Ter
XM_006718845.1:c.1265C>G	XP_006718908.1:p.Ser422Ter
XM_011542840.1:c.5309C>G	XP_011541142.1:p.Ser1770Ter
XM_011542841.1:c.5309C>G	XP_011541143.1:p.Ser1770Ter
XM_011542842.1:c.5144C>G	XP_011541144.1:p.Ser1715Ter
XM_011542843.1:c.5309C>G	XP_011541145.1:p.Ser1770Ter
XM_011542844.1:c.4265C>G	XP_011541146.1:p.Ser1422Ter
XM_011542845.1:c.4001C>G	XP_011541147.1:p.Ser1334Ter
XM_011542846.1:c.5309C>G	XP_011541148.1:p.Ser1770Ter
XM_011542847.1:c.380C>G	XP_011541149.1:p.Ser127Ter
NM_001351834.1:c.5309C>G	NP_001338763.1:p.Ser1770Ter
XM_005271562.5:c.5309C>G	XP_005271619.2:p.Ser1770Ter
XM_006718843.4:c.5309C>G	XP_006718906.1:p.Ser1770Ter
XM_006718845.2:c.1265C>G	XP_006718908.1:p.Ser422Ter
XM_011542840.3:c.5309C>G	XP_011541142.1:p.Ser1770Ter
XM_011542842.3:c.5144C>G	XP_011541144.1:p.Ser1715Ter
XM_011542843.2:c.5309C>G	XP_011541145.1:p.Ser1770Ter
XM_011542844.3:c.4265C>G	XP_011541146.1:p.Ser1422Ter
XM_011542845.2:c.4001C>G	XP_011541147.1:p.Ser1334Ter
XM_017017789.2:c.5309C>G	XP_016873278.1:p.Ser1770Ter
XM_017017790.2:c.5309C>G	XP_016873279.1:p.Ser1770Ter
XM_017017791.1:c.5309C>G	XP_016873280.1:p.Ser1770Ter
XM_017017792.2:c.5309C>G	XP_016873281.1:p.Ser1770Ter
XR_002957150.1:n.5909C>G
NM_001351834.2:c.5309C>G	NP_001338763.1:p.Ser1770Ter
NM_000051.4:c.5309C>G MANE Select	NP_000042.3:p.Ser1770Ter