Canonical Allele Identifier: CA16606070
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 379550
dbSNP Id: rs1057520640

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108287712C>A , CM000673.2:g.108287712C>A GRCh38
NC_000011.9:g.108158439C>A , CM000673.1:g.108158439C>A GRCh37
NC_000011.8:g.107663649C>A NCBI36
NG_009830.1:g.69881C>A , LRG_135:g.69881C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4106C>A ENSP00000388058.2:p.Ser1369Ter
ENST00000713593.1:c.*3577C>A ENSP00000518889.1:n.*3577C>A
ENST00000278616.9:c.4106C>A ENSP00000278616.4:p.Ser1369Ter
ENST00000533733.6:n.1369C>A
ENST00000683174.1:n.4256C>A
ENST00000527805.6:c.4106C>A ENSP00000435747.2:p.Ser1369Ter
ENST00000675595.1:c.3941C>A ENSP00000502563.1:p.Ser1314Ter
ENST00000675843.1:c.4106C>A MANE Select ENSP00000501606.1:p.Ser1369Ter
ENST00000278616.8:c.4106C>A ENSP00000278616.4:p.Ser1369Ter
ENST00000452508.6:c.4106C>A ENSP00000388058.2:p.Ser1369Ter
ENST00000524792.5:n.321C>A
ENST00000527805.5:c.4106C>A ENSP00000435747.1:p.Ser1369Ter
ENST00000531525.2:c.113C>A ENSP00000434327.2:p.Ser38Ter
ENST00000533733.5:n.535C>A
NM_000051.3:c.4106C>A , LRG_135t1:c.4106C>A NP_000042.3:p.Ser1369Ter
XM_005271561.3:c.4106C>A XP_005271618.2:p.Ser1369Ter
XM_005271562.3:c.4106C>A XP_005271619.2:p.Ser1369Ter
XM_006718843.2:c.4106C>A XP_006718906.1:p.Ser1369Ter
XM_006718845.1:c.62C>A XP_006718908.1:p.Ser21Ter
XM_011542840.1:c.4106C>A XP_011541142.1:p.Ser1369Ter
XM_011542841.1:c.4106C>A XP_011541143.1:p.Ser1369Ter
XM_011542842.1:c.3941C>A XP_011541144.1:p.Ser1314Ter
XM_011542843.1:c.4106C>A XP_011541145.1:p.Ser1369Ter
XM_011542844.1:c.3062C>A XP_011541146.1:p.Ser1021Ter
XM_011542845.1:c.2798C>A XP_011541147.1:p.Ser933Ter
XM_011542846.1:c.4106C>A XP_011541148.1:p.Ser1369Ter
NM_001351834.1:c.4106C>A NP_001338763.1:p.Ser1369Ter
XM_005271562.5:c.4106C>A XP_005271619.2:p.Ser1369Ter
XM_006718843.4:c.4106C>A XP_006718906.1:p.Ser1369Ter
XM_006718845.2:c.62C>A XP_006718908.1:p.Ser21Ter
XM_011542840.3:c.4106C>A XP_011541142.1:p.Ser1369Ter
XM_011542842.3:c.3941C>A XP_011541144.1:p.Ser1314Ter
XM_011542843.2:c.4106C>A XP_011541145.1:p.Ser1369Ter
XM_011542844.3:c.3062C>A XP_011541146.1:p.Ser1021Ter
XM_011542845.2:c.2798C>A XP_011541147.1:p.Ser933Ter
XM_017017789.2:c.4106C>A XP_016873278.1:p.Ser1369Ter
XM_017017790.2:c.4106C>A XP_016873279.1:p.Ser1369Ter
XM_017017791.1:c.4106C>A XP_016873280.1:p.Ser1369Ter
XM_017017792.2:c.4106C>A XP_016873281.1:p.Ser1369Ter
XR_002957150.1:n.4839C>A
NM_001351834.2:c.4106C>A NP_001338763.1:p.Ser1369Ter
NM_000051.4:c.4106C>A MANE Select NP_000042.3:p.Ser1369Ter