Canonical Allele Identifier: CA476675259
Gene: ATM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.108178710A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108307983A>C , CM000673.2:g.108307983A>C GRCh38
NC_000011.9:g.108178710A>C , CM000673.1:g.108178710A>C GRCh37
NC_000011.8:g.107683920A>C NCBI36
NG_009830.1:g.90152A>C , LRG_135:g.90152A>C
NG_054724.1:g.166850T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5761A>C ENSP00000388058.2:p.Arg1921=
ENST00000713593.1:c.*5232A>C ENSP00000518889.1:n.*5232A>C
ENST00000278616.9:c.5761A>C ENSP00000278616.4:p.Arg1921=
ENST00000525056.2:n.180A>C
ENST00000682286.1:n.518A>C
ENST00000682302.1:n.179A>C
ENST00000683174.1:n.7245A>C
ENST00000683524.1:n.985A>C
ENST00000684152.1:n.1475A>C
ENST00000527805.6:c.*825A>C ENSP00000435747.2:n.*825A>C
ENST00000675595.1:c.*825A>C ENSP00000502563.1:n.*825A>C
ENST00000675843.1:c.5761A>C MANE Select ENSP00000501606.1:p.Arg1921=
ENST00000278616.8:c.5761A>C ENSP00000278616.4:p.Arg1921=
ENST00000452508.6:c.5761A>C ENSP00000388058.2:p.Arg1921=
ENST00000524792.5:n.1976A>C
ENST00000529588.5:c.187-2177A>C
ENST00000533690.5:n.1165A>C
NM_000051.3:c.5761A>C , LRG_135t1:c.5761A>C NP_000042.3:p.Arg1921=
XM_005271561.3:c.5761A>C XP_005271618.2:p.Arg1921=
XM_005271562.3:c.5761A>C XP_005271619.2:p.Arg1921=
XM_006718843.2:c.5761A>C XP_006718906.1:p.Arg1921=
XM_006718845.1:c.1717A>C XP_006718908.1:p.Arg573=
XM_011542840.1:c.5761A>C XP_011541142.1:p.Arg1921=
XM_011542841.1:c.5761A>C XP_011541143.1:p.Arg1921=
XM_011542842.1:c.5596A>C XP_011541144.1:p.Arg1866=
XM_011542843.1:c.5761A>C XP_011541145.1:p.Arg1921=
XM_011542844.1:c.4717A>C XP_011541146.1:p.Arg1573=
XM_011542845.1:c.4453A>C XP_011541147.1:p.Arg1485=
XM_011542847.1:c.832A>C XP_011541149.1:p.Arg278=
NM_001351834.1:c.5761A>C NP_001338763.1:p.Arg1921=
XM_005271562.5:c.5761A>C XP_005271619.2:p.Arg1921=
XM_006718843.4:c.5761A>C XP_006718906.1:p.Arg1921=
XM_006718845.2:c.1717A>C XP_006718908.1:p.Arg573=
XM_011542840.3:c.5761A>C XP_011541142.1:p.Arg1921=
XM_011542842.3:c.5596A>C XP_011541144.1:p.Arg1866=
XM_011542843.2:c.5761A>C XP_011541145.1:p.Arg1921=
XM_011542844.3:c.4717A>C XP_011541146.1:p.Arg1573=
XM_011542845.2:c.4453A>C XP_011541147.1:p.Arg1485=
XM_017017789.2:c.5761A>C XP_016873278.1:p.Arg1921=
XM_017017790.2:c.5761A>C XP_016873279.1:p.Arg1921=
XM_017017791.1:c.5761A>C XP_016873280.1:p.Arg1921=
XR_002957150.1:n.6361A>C
NM_001351834.2:c.5761A>C NP_001338763.1:p.Arg1921=
NM_000051.4:c.5761A>C MANE Select NP_000042.3:p.Arg1921=