Canonical Allele Identifier: CA382536762
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1783327
ClinVar RCV Id: RCV002421636
dbSNP Id: rs2135367424

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108253872C>A , CM000673.2:g.108253872C>A GRCh38
NC_000011.9:g.108124599C>A , CM000673.1:g.108124599C>A GRCh37
NC_000011.8:g.107629809C>A NCBI36
NG_009830.1:g.36041C>A , LRG_135:g.36041C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.1957C>A ENSP00000388058.2:p.Leu653Ile
ENST00000713593.1:c.*1428C>A ENSP00000518889.1:n.*1428C>A
ENST00000278616.9:c.1957C>A ENSP00000278616.4:p.Leu653Ile
ENST00000682516.1:n.2091C>A
ENST00000683174.1:n.2107C>A
ENST00000683605.1:n.1452C>A
ENST00000684037.1:c.*892C>A ENSP00000508245.1:n.*892C>A
ENST00000684061.1:n.2091C>A
ENST00000527805.6:c.1957C>A ENSP00000435747.2:p.Leu653Ile
ENST00000675595.1:c.1792C>A ENSP00000502563.1:p.Leu598Ile
ENST00000675843.1:c.1957C>A MANE Select ENSP00000501606.1:p.Leu653Ile
ENST00000278616.8:c.1957C>A ENSP00000278616.4:p.Leu653Ile
ENST00000452508.6:c.1957C>A ENSP00000388058.2:p.Leu653Ile
ENST00000525012.5:n.134C>A
ENST00000527805.5:c.1957C>A ENSP00000435747.1:p.Leu653Ile
ENST00000533526.1:n.110C>A
NM_000051.3:c.1957C>A , LRG_135t1:c.1957C>A NP_000042.3:p.Leu653Ile
XM_005271561.3:c.1957C>A XP_005271618.2:p.Leu653Ile
XM_005271562.3:c.1957C>A XP_005271619.2:p.Leu653Ile
XM_006718843.2:c.1957C>A XP_006718906.1:p.Leu653Ile
XM_011542840.1:c.1957C>A XP_011541142.1:p.Leu653Ile
XM_011542841.1:c.1957C>A XP_011541143.1:p.Leu653Ile
XM_011542842.1:c.1792C>A XP_011541144.1:p.Leu598Ile
XM_011542843.1:c.1957C>A XP_011541145.1:p.Leu653Ile
XM_011542844.1:c.913C>A XP_011541146.1:p.Leu305Ile
XM_011542845.1:c.649C>A XP_011541147.1:p.Leu217Ile
XM_011542846.1:c.1957C>A XP_011541148.1:p.Leu653Ile
NM_001351834.1:c.1957C>A NP_001338763.1:p.Leu653Ile
XM_005271562.5:c.1957C>A XP_005271619.2:p.Leu653Ile
XM_006718843.4:c.1957C>A XP_006718906.1:p.Leu653Ile
XM_011542840.3:c.1957C>A XP_011541142.1:p.Leu653Ile
XM_011542842.3:c.1792C>A XP_011541144.1:p.Leu598Ile
XM_011542843.2:c.1957C>A XP_011541145.1:p.Leu653Ile
XM_011542844.3:c.913C>A XP_011541146.1:p.Leu305Ile
XM_011542845.2:c.649C>A XP_011541147.1:p.Leu217Ile
XM_017017789.2:c.1957C>A XP_016873278.1:p.Leu653Ile
XM_017017790.2:c.1957C>A XP_016873279.1:p.Leu653Ile
XM_017017791.1:c.1957C>A XP_016873280.1:p.Leu653Ile
XM_017017792.2:c.1957C>A XP_016873281.1:p.Leu653Ile
XR_002957150.1:n.2690C>A
NM_001351834.2:c.1957C>A NP_001338763.1:p.Leu653Ile
NM_000051.4:c.1957C>A MANE Select NP_000042.3:p.Leu653Ile