Canonical Allele Identifier: CA382540526

Gene: ATM

Linked Data

• ClinVar Variation Id: 479098
• ClinVar RCV Id: RCV000562426 ; RCV000627893 ; RCV003470811
• dbSNP Id: rs1555104609
• MyVariant Identifiers: chr11:g.108170500C>T (hg19) ; chr11:g.108299773C>T (hg38)
• PubMed: PMID:28281021

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299773C>T , CM000673.2:g.108299773C>T	GRCh38
NC_000011.9:g.108170500C>T , CM000673.1:g.108170500C>T	GRCh37
NC_000011.8:g.107675710C>T	NCBI36
NG_009830.1:g.81942C>T , LRG_135:g.81942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5065C>T	ENSP00000388058.2:p.Gln1689Ter
ENST00000713593.1:c.*4536C>T	ENSP00000518889.1:n.*4536C>T
ENST00000278616.9:c.5065C>T	ENSP00000278616.4:p.Gln1689Ter
ENST00000683174.1:n.6549C>T
ENST00000683524.1:n.289C>T
ENST00000684152.1:n.779C>T
ENST00000527805.6:c.*129C>T	ENSP00000435747.2:n.*129C>T
ENST00000675595.1:c.*129C>T	ENSP00000502563.1:n.*129C>T
ENST00000675843.1:c.5065C>T MANE Select	ENSP00000501606.1:p.Gln1689Ter
ENST00000278616.8:c.5065C>T	ENSP00000278616.4:p.Gln1689Ter
ENST00000452508.6:c.5065C>T	ENSP00000388058.2:p.Gln1689Ter
ENST00000524792.5:n.1280C>T
ENST00000533690.5:n.469C>T
ENST00000534625.1:n.294C>T
NM_000051.3:c.5065C>T , LRG_135t1:c.5065C>T	NP_000042.3:p.Gln1689Ter
XM_005271561.3:c.5065C>T	XP_005271618.2:p.Gln1689Ter
XM_005271562.3:c.5065C>T	XP_005271619.2:p.Gln1689Ter
XM_006718843.2:c.5065C>T	XP_006718906.1:p.Gln1689Ter
XM_006718845.1:c.1021C>T	XP_006718908.1:p.Gln341Ter
XM_011542840.1:c.5065C>T	XP_011541142.1:p.Gln1689Ter
XM_011542841.1:c.5065C>T	XP_011541143.1:p.Gln1689Ter
XM_011542842.1:c.4900C>T	XP_011541144.1:p.Gln1634Ter
XM_011542843.1:c.5065C>T	XP_011541145.1:p.Gln1689Ter
XM_011542844.1:c.4021C>T	XP_011541146.1:p.Gln1341Ter
XM_011542845.1:c.3757C>T	XP_011541147.1:p.Gln1253Ter
XM_011542846.1:c.5065C>T	XP_011541148.1:p.Gln1689Ter
XM_011542847.1:c.136C>T	XP_011541149.1:p.Gln46Ter
NM_001351834.1:c.5065C>T	NP_001338763.1:p.Gln1689Ter
XM_005271562.5:c.5065C>T	XP_005271619.2:p.Gln1689Ter
XM_006718843.4:c.5065C>T	XP_006718906.1:p.Gln1689Ter
XM_006718845.2:c.1021C>T	XP_006718908.1:p.Gln341Ter
XM_011542840.3:c.5065C>T	XP_011541142.1:p.Gln1689Ter
XM_011542842.3:c.4900C>T	XP_011541144.1:p.Gln1634Ter
XM_011542843.2:c.5065C>T	XP_011541145.1:p.Gln1689Ter
XM_011542844.3:c.4021C>T	XP_011541146.1:p.Gln1341Ter
XM_011542845.2:c.3757C>T	XP_011541147.1:p.Gln1253Ter
XM_017017789.2:c.5065C>T	XP_016873278.1:p.Gln1689Ter
XM_017017790.2:c.5065C>T	XP_016873279.1:p.Gln1689Ter
XM_017017791.1:c.5065C>T	XP_016873280.1:p.Gln1689Ter
XM_017017792.2:c.5065C>T	XP_016873281.1:p.Gln1689Ter
XR_002957150.1:n.5665C>T
NM_001351834.2:c.5065C>T	NP_001338763.1:p.Gln1689Ter
NM_000051.4:c.5065C>T MANE Select	NP_000042.3:p.Gln1689Ter