Canonical Allele Identifier: CA382543051
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 856090
ClinVar RCV Id: RCV001061482
dbSNP Id: rs2083497029

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302860A>T , CM000673.2:g.108302860A>T GRCh38
NC_000011.9:g.108173587A>T , CM000673.1:g.108173587A>T GRCh37
NC_000011.8:g.107678797A>T NCBI36
NG_009830.1:g.85029A>T , LRG_135:g.85029A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5327A>T ENSP00000388058.2:p.Glu1776Val
ENST00000713593.1:c.*4798A>T ENSP00000518889.1:n.*4798A>T
ENST00000278616.9:c.5327A>T ENSP00000278616.4:p.Glu1776Val
ENST00000683174.1:n.6811A>T
ENST00000683524.1:n.551A>T
ENST00000684152.1:n.1041A>T
ENST00000527805.6:c.*391A>T ENSP00000435747.2:n.*391A>T
ENST00000675595.1:c.*391A>T ENSP00000502563.1:n.*391A>T
ENST00000675843.1:c.5327A>T MANE Select ENSP00000501606.1:p.Glu1776Val
ENST00000278616.8:c.5327A>T ENSP00000278616.4:p.Glu1776Val
ENST00000452508.6:c.5327A>T ENSP00000388058.2:p.Glu1776Val
ENST00000524792.5:n.1542A>T
ENST00000533690.5:n.731A>T
ENST00000534625.1:n.556A>T
NM_000051.3:c.5327A>T , LRG_135t1:c.5327A>T NP_000042.3:p.Glu1776Val
XM_005271561.3:c.5327A>T XP_005271618.2:p.Glu1776Val
XM_005271562.3:c.5327A>T XP_005271619.2:p.Glu1776Val
XM_006718843.2:c.5327A>T XP_006718906.1:p.Glu1776Val
XM_006718845.1:c.1283A>T XP_006718908.1:p.Glu428Val
XM_011542840.1:c.5327A>T XP_011541142.1:p.Glu1776Val
XM_011542841.1:c.5327A>T XP_011541143.1:p.Glu1776Val
XM_011542842.1:c.5162A>T XP_011541144.1:p.Glu1721Val
XM_011542843.1:c.5327A>T XP_011541145.1:p.Glu1776Val
XM_011542844.1:c.4283A>T XP_011541146.1:p.Glu1428Val
XM_011542845.1:c.4019A>T XP_011541147.1:p.Glu1340Val
XM_011542846.1:c.5328A>T XP_011541148.1:p.Arg1776Ser
XM_011542847.1:c.398A>T XP_011541149.1:p.Glu133Val
NM_001351834.1:c.5327A>T NP_001338763.1:p.Glu1776Val
XM_005271562.5:c.5327A>T XP_005271619.2:p.Glu1776Val
XM_006718843.4:c.5327A>T XP_006718906.1:p.Glu1776Val
XM_006718845.2:c.1283A>T XP_006718908.1:p.Glu428Val
XM_011542840.3:c.5327A>T XP_011541142.1:p.Glu1776Val
XM_011542842.3:c.5162A>T XP_011541144.1:p.Glu1721Val
XM_011542843.2:c.5327A>T XP_011541145.1:p.Glu1776Val
XM_011542844.3:c.4283A>T XP_011541146.1:p.Glu1428Val
XM_011542845.2:c.4019A>T XP_011541147.1:p.Glu1340Val
XM_017017789.2:c.5327A>T XP_016873278.1:p.Glu1776Val
XM_017017790.2:c.5327A>T XP_016873279.1:p.Glu1776Val
XM_017017791.1:c.5327A>T XP_016873280.1:p.Glu1776Val
XM_017017792.2:c.*8A>T XP_016873281.1:n.*8A>T
XR_002957150.1:n.5927A>T
NM_001351834.2:c.5327A>T NP_001338763.1:p.Glu1776Val
NM_000051.4:c.5327A>T MANE Select NP_000042.3:p.Glu1776Val