Canonical Allele Identifier: CA3185896074
Community Standard Title: NM_000051.4(ATM):c.1255T= (p.Leu419=)
Gene: ATM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.1255T= MANE Select NP_000042.3:p.Leu419=
ENST00000675843.1:c.1255T= MANE Select ENSP00000501606.1:p.Leu419=
NM_000051.3:c.1255T= , LRG_135t1:c.1255T= NP_000042.3:p.Leu419=
NM_001351834.1:c.1255T= NP_001338763.1:p.Leu419=
NM_001351834.2:c.1255T= NP_001338763.1:p.Leu419=
ENST00000278616.8:c.1255T= ENSP00000278616.4:p.Leu419=
ENST00000278616.9:c.1255T= ENSP00000278616.4:p.Leu419=
ENST00000452508.6:c.1255T= ENSP00000388058.2:p.Leu419=
ENST00000452508.7:c.1255T= ENSP00000388058.2:p.Leu419=
ENST00000527805.5:c.1255T= ENSP00000435747.1:p.Leu419=
ENST00000527805.6:c.1255T= ENSP00000435747.2:p.Leu419=
ENST00000675595.1:c.1090T= ENSP00000502563.1:p.Leu364=
ENST00000682516.1:n.1389T=
ENST00000682956.1:n.1389T=
ENST00000683174.1:n.1405T=
ENST00000683605.1:n.750T=
ENST00000684037.1:c.*190T= ENSP00000508245.1:n.*190T=
ENST00000684061.1:n.1389T=
ENST00000684179.1:n.1224T=
ENST00000713593.1:c.*726T= ENSP00000518889.1:n.*726T=
XM_005271561.3:c.1255T= XP_005271618.2:p.Leu419=
XM_005271562.3:c.1255T= XP_005271619.2:p.Leu419=
XM_005271562.5:c.1255T= XP_005271619.2:p.Leu419=
XM_006718843.2:c.1255T= XP_006718906.1:p.Leu419=
XM_006718843.4:c.1255T= XP_006718906.1:p.Leu419=
XM_011542840.1:c.1255T= XP_011541142.1:p.Leu419=
XM_011542840.3:c.1255T= XP_011541142.1:p.Leu419=
XM_011542841.1:c.1255T= XP_011541143.1:p.Leu419=
XM_011542842.1:c.1090T= XP_011541144.1:p.Leu364=
XM_011542842.3:c.1090T= XP_011541144.1:p.Leu364=
XM_011542843.1:c.1255T= XP_011541145.1:p.Leu419=
XM_011542843.2:c.1255T= XP_011541145.1:p.Leu419=
XM_011542844.1:c.211T= XP_011541146.1:p.Leu71=
XM_011542844.3:c.211T= XP_011541146.1:p.Leu71=
XM_011542845.1:c.-54T= XP_011541147.1:n.-54T=
XM_011542845.2:c.-54T= XP_011541147.1:n.-54T=
XM_011542846.1:c.1255T= XP_011541148.1:p.Leu419=
XM_017017789.2:c.1255T= XP_016873278.1:p.Leu419=
XM_017017790.2:c.1255T= XP_016873279.1:p.Leu419=
XM_017017791.1:c.1255T= XP_016873280.1:p.Leu419=
XM_017017792.2:c.1255T= XP_016873281.1:p.Leu419=
XR_002957150.1:n.1988T=