Canonical Allele Identifier: CA382543764

Gene: ATM

Linked Data

• ClinVar Variation Id: 922886
• ClinVar RCV Id: RCV001183193 ; RCV001341538
• dbSNP Id: rs2083502587
• MyVariant Identifiers: chr11:g.108173664C>T (hg19) ; chr11:g.108302937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302937C>T , CM000673.2:g.108302937C>T	GRCh38
NC_000011.9:g.108173664C>T , CM000673.1:g.108173664C>T	GRCh37
NC_000011.8:g.107678874C>T	NCBI36
NG_009830.1:g.85106C>T , LRG_135:g.85106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5404C>T	ENSP00000388058.2:p.His1802Tyr
ENST00000713593.1:c.*4875C>T	ENSP00000518889.1:n.*4875C>T
ENST00000278616.9:c.5404C>T	ENSP00000278616.4:p.His1802Tyr
ENST00000683174.1:n.6888C>T
ENST00000683524.1:n.628C>T
ENST00000684152.1:n.1118C>T
ENST00000527805.6:c.*468C>T	ENSP00000435747.2:n.*468C>T
ENST00000675595.1:c.*468C>T	ENSP00000502563.1:n.*468C>T
ENST00000675843.1:c.5404C>T MANE Select	ENSP00000501606.1:p.His1802Tyr
ENST00000278616.8:c.5404C>T	ENSP00000278616.4:p.His1802Tyr
ENST00000452508.6:c.5404C>T	ENSP00000388058.2:p.His1802Tyr
ENST00000524792.5:n.1619C>T
ENST00000533690.5:n.808C>T
ENST00000534625.1:n.633C>T
NM_000051.3:c.5404C>T , LRG_135t1:c.5404C>T	NP_000042.3:p.His1802Tyr
XM_005271561.3:c.5404C>T	XP_005271618.2:p.His1802Tyr
XM_005271562.3:c.5404C>T	XP_005271619.2:p.His1802Tyr
XM_006718843.2:c.5404C>T	XP_006718906.1:p.His1802Tyr
XM_006718845.1:c.1360C>T	XP_006718908.1:p.His454Tyr
XM_011542840.1:c.5404C>T	XP_011541142.1:p.His1802Tyr
XM_011542841.1:c.5404C>T	XP_011541143.1:p.His1802Tyr
XM_011542842.1:c.5239C>T	XP_011541144.1:p.His1747Tyr
XM_011542843.1:c.5404C>T	XP_011541145.1:p.His1802Tyr
XM_011542844.1:c.4360C>T	XP_011541146.1:p.His1454Tyr
XM_011542845.1:c.4096C>T	XP_011541147.1:p.His1366Tyr
XM_011542846.1:c.*62C>T	XP_011541148.1:n.*62C>T
XM_011542847.1:c.475C>T	XP_011541149.1:p.His159Tyr
NM_001351834.1:c.5404C>T	NP_001338763.1:p.His1802Tyr
XM_005271562.5:c.5404C>T	XP_005271619.2:p.His1802Tyr
XM_006718843.4:c.5404C>T	XP_006718906.1:p.His1802Tyr
XM_006718845.2:c.1360C>T	XP_006718908.1:p.His454Tyr
XM_011542840.3:c.5404C>T	XP_011541142.1:p.His1802Tyr
XM_011542842.3:c.5239C>T	XP_011541144.1:p.His1747Tyr
XM_011542843.2:c.5404C>T	XP_011541145.1:p.His1802Tyr
XM_011542844.3:c.4360C>T	XP_011541146.1:p.His1454Tyr
XM_011542845.2:c.4096C>T	XP_011541147.1:p.His1366Tyr
XM_017017789.2:c.5404C>T	XP_016873278.1:p.His1802Tyr
XM_017017790.2:c.5404C>T	XP_016873279.1:p.His1802Tyr
XM_017017791.1:c.5404C>T	XP_016873280.1:p.His1802Tyr
XR_002957150.1:n.6004C>T
NM_001351834.2:c.5404C>T	NP_001338763.1:p.His1802Tyr
NM_000051.4:c.5404C>T MANE Select	NP_000042.3:p.His1802Tyr