Canonical Allele Identifier: CA382533258
Community Standard Title: NM_000051.4(ATM):c.1255T>G (p.Leu419Val)
Gene: ATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108250720T>G , CM000673.2:g.108250720T>G GRCh38
NC_000011.9:g.108121447T>G , CM000673.1:g.108121447T>G GRCh37
NC_000011.8:g.107626657T>G NCBI36
NG_009830.1:g.32889T>G , LRG_135:g.32889T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.1255T>G MANE Select NP_000042.3:p.Leu419Val
ENST00000675843.1:c.1255T>G MANE Select ENSP00000501606.1:p.Leu419Val
NM_000051.3:c.1255T>G , LRG_135t1:c.1255T>G NP_000042.3:p.Leu419Val
NM_001351834.1:c.1255T>G NP_001338763.1:p.Leu419Val
NM_001351834.2:c.1255T>G NP_001338763.1:p.Leu419Val
ENST00000278616.8:c.1255T>G ENSP00000278616.4:p.Leu419Val
ENST00000278616.9:c.1255T>G ENSP00000278616.4:p.Leu419Val
ENST00000452508.6:c.1255T>G ENSP00000388058.2:p.Leu419Val
ENST00000452508.7:c.1255T>G ENSP00000388058.2:p.Leu419Val
ENST00000527805.5:c.1255T>G ENSP00000435747.1:p.Leu419Val
ENST00000527805.6:c.1255T>G ENSP00000435747.2:p.Leu419Val
ENST00000675595.1:c.1090T>G ENSP00000502563.1:p.Leu364Val
ENST00000682516.1:n.1389T>G
ENST00000682956.1:n.1389T>G
ENST00000683174.1:n.1405T>G
ENST00000683605.1:n.750T>G
ENST00000684037.1:c.*190T>G ENSP00000508245.1:n.*190T>G
ENST00000684061.1:n.1389T>G
ENST00000684179.1:n.1224T>G
ENST00000713593.1:c.*726T>G ENSP00000518889.1:n.*726T>G
XM_005271561.3:c.1255T>G XP_005271618.2:p.Leu419Val
XM_005271562.3:c.1255T>G XP_005271619.2:p.Leu419Val
XM_005271562.5:c.1255T>G XP_005271619.2:p.Leu419Val
XM_006718843.2:c.1255T>G XP_006718906.1:p.Leu419Val
XM_006718843.4:c.1255T>G XP_006718906.1:p.Leu419Val
XM_011542840.1:c.1255T>G XP_011541142.1:p.Leu419Val
XM_011542840.3:c.1255T>G XP_011541142.1:p.Leu419Val
XM_011542841.1:c.1255T>G XP_011541143.1:p.Leu419Val
XM_011542842.1:c.1090T>G XP_011541144.1:p.Leu364Val
XM_011542842.3:c.1090T>G XP_011541144.1:p.Leu364Val
XM_011542843.1:c.1255T>G XP_011541145.1:p.Leu419Val
XM_011542843.2:c.1255T>G XP_011541145.1:p.Leu419Val
XM_011542844.1:c.211T>G XP_011541146.1:p.Leu71Val
XM_011542844.3:c.211T>G XP_011541146.1:p.Leu71Val
XM_011542845.1:c.-54T>G XP_011541147.1:n.-54T>G
XM_011542845.2:c.-54T>G XP_011541147.1:n.-54T>G
XM_011542846.1:c.1255T>G XP_011541148.1:p.Leu419Val
XM_017017789.2:c.1255T>G XP_016873278.1:p.Leu419Val
XM_017017790.2:c.1255T>G XP_016873279.1:p.Leu419Val
XM_017017791.1:c.1255T>G XP_016873280.1:p.Leu419Val
XM_017017792.2:c.1255T>G XP_016873281.1:p.Leu419Val
XR_002957150.1:n.1988T>G
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