Canonical Allele Identifier: CA382544004

Gene: ATM

Linked Data

• ClinVar Variation Id: 569948
• ClinVar RCV Id: RCV000690712
• dbSNP Id: rs1565479223
• MyVariant Identifiers: chr11:g.108173689C>T (hg19) ; chr11:g.108302962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302962C>T , CM000673.2:g.108302962C>T	GRCh38
NC_000011.9:g.108173689C>T , CM000673.1:g.108173689C>T	GRCh37
NC_000011.8:g.107678899C>T	NCBI36
NG_009830.1:g.85131C>T , LRG_135:g.85131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5429C>T	ENSP00000388058.2:p.Thr1810Ile
ENST00000713593.1:c.*4900C>T	ENSP00000518889.1:n.*4900C>T
ENST00000278616.9:c.5429C>T	ENSP00000278616.4:p.Thr1810Ile
ENST00000683174.1:n.6913C>T
ENST00000683524.1:n.653C>T
ENST00000684152.1:n.1143C>T
ENST00000527805.6:c.*493C>T	ENSP00000435747.2:n.*493C>T
ENST00000675595.1:c.*493C>T	ENSP00000502563.1:n.*493C>T
ENST00000675843.1:c.5429C>T MANE Select	ENSP00000501606.1:p.Thr1810Ile
ENST00000278616.8:c.5429C>T	ENSP00000278616.4:p.Thr1810Ile
ENST00000452508.6:c.5429C>T	ENSP00000388058.2:p.Thr1810Ile
ENST00000524792.5:n.1644C>T
ENST00000533690.5:n.833C>T
ENST00000534625.1:n.658C>T
NM_000051.3:c.5429C>T , LRG_135t1:c.5429C>T	NP_000042.3:p.Thr1810Ile
XM_005271561.3:c.5429C>T	XP_005271618.2:p.Thr1810Ile
XM_005271562.3:c.5429C>T	XP_005271619.2:p.Thr1810Ile
XM_006718843.2:c.5429C>T	XP_006718906.1:p.Thr1810Ile
XM_006718845.1:c.1385C>T	XP_006718908.1:p.Thr462Ile
XM_011542840.1:c.5429C>T	XP_011541142.1:p.Thr1810Ile
XM_011542841.1:c.5429C>T	XP_011541143.1:p.Thr1810Ile
XM_011542842.1:c.5264C>T	XP_011541144.1:p.Thr1755Ile
XM_011542843.1:c.5429C>T	XP_011541145.1:p.Thr1810Ile
XM_011542844.1:c.4385C>T	XP_011541146.1:p.Thr1462Ile
XM_011542845.1:c.4121C>T	XP_011541147.1:p.Thr1374Ile
XM_011542846.1:c.*87C>T	XP_011541148.1:n.*87C>T
XM_011542847.1:c.500C>T	XP_011541149.1:p.Thr167Ile
NM_001351834.1:c.5429C>T	NP_001338763.1:p.Thr1810Ile
XM_005271562.5:c.5429C>T	XP_005271619.2:p.Thr1810Ile
XM_006718843.4:c.5429C>T	XP_006718906.1:p.Thr1810Ile
XM_006718845.2:c.1385C>T	XP_006718908.1:p.Thr462Ile
XM_011542840.3:c.5429C>T	XP_011541142.1:p.Thr1810Ile
XM_011542842.3:c.5264C>T	XP_011541144.1:p.Thr1755Ile
XM_011542843.2:c.5429C>T	XP_011541145.1:p.Thr1810Ile
XM_011542844.3:c.4385C>T	XP_011541146.1:p.Thr1462Ile
XM_011542845.2:c.4121C>T	XP_011541147.1:p.Thr1374Ile
XM_017017789.2:c.5429C>T	XP_016873278.1:p.Thr1810Ile
XM_017017790.2:c.5429C>T	XP_016873279.1:p.Thr1810Ile
XM_017017791.1:c.5429C>T	XP_016873280.1:p.Thr1810Ile
XR_002957150.1:n.6029C>T
NM_001351834.2:c.5429C>T	NP_001338763.1:p.Thr1810Ile
NM_000051.4:c.5429C>T MANE Select	NP_000042.3:p.Thr1810Ile