Canonical Allele Identifier: CA476744968
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2009030
ClinVar RCV Id: RCV002838006
dbSNP Id: rs1057523320
COSMIC: COSM348328
MyVariant Identifiers: chr11:g.108154978A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108284251A>T , CM000673.2:g.108284251A>T GRCh38
NC_000011.9:g.108154978A>T , CM000673.1:g.108154978A>T GRCh37
NC_000011.8:g.107660188A>T NCBI36
NG_009830.1:g.66420A>T , LRG_135:g.66420A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.3771A>T ENSP00000388058.2:p.Pro1257=
ENST00000713593.1:c.*3242A>T ENSP00000518889.1:n.*3242A>T
ENST00000278616.9:c.3771A>T ENSP00000278616.4:p.Pro1257=
ENST00000682289.1:n.118A>T
ENST00000683174.1:n.3921A>T
ENST00000527805.6:c.3771A>T ENSP00000435747.2:p.Pro1257=
ENST00000675595.1:c.3606A>T ENSP00000502563.1:p.Pro1202=
ENST00000675843.1:c.3771A>T MANE Select ENSP00000501606.1:p.Pro1257=
ENST00000278616.8:c.3771A>T ENSP00000278616.4:p.Pro1257=
ENST00000452508.6:c.3771A>T ENSP00000388058.2:p.Pro1257=
ENST00000527805.5:c.3771A>T ENSP00000435747.1:p.Pro1257=
NM_000051.3:c.3771A>T , LRG_135t1:c.3771A>T NP_000042.3:p.Pro1257=
XM_005271561.3:c.3771A>T XP_005271618.2:p.Pro1257=
XM_005271562.3:c.3771A>T XP_005271619.2:p.Pro1257=
XM_006718843.2:c.3771A>T XP_006718906.1:p.Pro1257=
XM_011542840.1:c.3771A>T XP_011541142.1:p.Pro1257=
XM_011542841.1:c.3771A>T XP_011541143.1:p.Pro1257=
XM_011542842.1:c.3606A>T XP_011541144.1:p.Pro1202=
XM_011542843.1:c.3771A>T XP_011541145.1:p.Pro1257=
XM_011542844.1:c.2727A>T XP_011541146.1:p.Pro909=
XM_011542845.1:c.2463A>T XP_011541147.1:p.Pro821=
XM_011542846.1:c.3771A>T XP_011541148.1:p.Pro1257=
NM_001351834.1:c.3771A>T NP_001338763.1:p.Pro1257=
XM_005271562.5:c.3771A>T XP_005271619.2:p.Pro1257=
XM_006718843.4:c.3771A>T XP_006718906.1:p.Pro1257=
XM_011542840.3:c.3771A>T XP_011541142.1:p.Pro1257=
XM_011542842.3:c.3606A>T XP_011541144.1:p.Pro1202=
XM_011542843.2:c.3771A>T XP_011541145.1:p.Pro1257=
XM_011542844.3:c.2727A>T XP_011541146.1:p.Pro909=
XM_011542845.2:c.2463A>T XP_011541147.1:p.Pro821=
XM_017017789.2:c.3771A>T XP_016873278.1:p.Pro1257=
XM_017017790.2:c.3771A>T XP_016873279.1:p.Pro1257=
XM_017017791.1:c.3771A>T XP_016873280.1:p.Pro1257=
XM_017017792.2:c.3771A>T XP_016873281.1:p.Pro1257=
XR_002957150.1:n.4504A>T
NM_001351834.2:c.3771A>T NP_001338763.1:p.Pro1257=
NM_000051.4:c.3771A>T MANE Select NP_000042.3:p.Pro1257=