Canonical Allele Identifier: CA157098
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 132695
dbSNP Id: rs1800057
COSMIC: COSM21827

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108272729C>G , CM000673.2:g.108272729C>G GRCh38
NC_000011.9:g.108143456C>G , CM000673.1:g.108143456C>G GRCh37
NC_000011.8:g.107648666C>G NCBI36
NG_009830.1:g.54898C>G , LRG_135:g.54898C>G

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.3161C>G , LRG_135t1:c.3161C>G NP_000042.3:p.Pro1054Arg
XM_005271561.3:c.3161C>G XP_005271618.2:p.Pro1054Arg
XM_005271562.3:c.3161C>G XP_005271619.2:p.Pro1054Arg
XM_006718843.2:c.3161C>G XP_006718906.1:p.Pro1054Arg
XM_011542840.1:c.3161C>G XP_011541142.1:p.Pro1054Arg
XM_011542841.1:c.3161C>G XP_011541143.1:p.Pro1054Arg
XM_011542842.1:c.2996C>G XP_011541144.1:p.Pro999Arg
XM_011542843.1:c.3161C>G XP_011541145.1:p.Pro1054Arg
XM_011542844.1:c.2117C>G XP_011541146.1:p.Pro706Arg
XM_011542845.1:c.1853C>G XP_011541147.1:p.Pro618Arg
XM_011542846.1:c.3161C>G XP_011541148.1:p.Pro1054Arg
NM_001351834.1:c.3161C>G VV NP_001338763.1:p.Pro1054Arg
XM_005271562.5:c.3161C>G XP_005271619.2:p.Pro1054Arg
XM_006718843.4:c.3161C>G XP_006718906.1:p.Pro1054Arg
XM_011542840.3:c.3161C>G XP_011541142.1:p.Pro1054Arg
XM_011542842.3:c.2996C>G XP_011541144.1:p.Pro999Arg
XM_011542843.2:c.3161C>G XP_011541145.1:p.Pro1054Arg
XM_011542844.3:c.2117C>G XP_011541146.1:p.Pro706Arg
XM_011542845.2:c.1853C>G XP_011541147.1:p.Pro618Arg
XM_017017789.2:c.3161C>G XP_016873278.1:p.Pro1054Arg
XM_017017790.2:c.3161C>G XP_016873279.1:p.Pro1054Arg
XM_017017791.1:c.3161C>G XP_016873280.1:p.Pro1054Arg
XM_017017792.2:c.3161C>G XP_016873281.1:p.Pro1054Arg
XR_002957150.1:n.3894C>G
ENST00000278616.8:c.3161C>G ENSP00000278616.4:p.Pro1054Arg
ENST00000452508.6:c.3161C>G ENSP00000388058.2:p.Pro1054Arg
ENST00000527805.5:c.3161C>G ENSP00000435747.1:p.Pro1054Arg