Canonical Allele Identifier: CA382545651

Gene: ATM

Linked Data

• MyVariant Identifiers: chr11:g.108175405A>G (hg19) ; chr11:g.108304678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304678A>G , CM000673.2:g.108304678A>G	GRCh38
NC_000011.9:g.108175405A>G , CM000673.1:g.108175405A>G	GRCh37
NC_000011.8:g.107680615A>G	NCBI36
NG_009830.1:g.86847A>G , LRG_135:g.86847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5500A>G	ENSP00000388058.2:p.Lys1834Glu
ENST00000713593.1:c.*4971A>G	ENSP00000518889.1:n.*4971A>G
ENST00000278616.9:c.5500A>G	ENSP00000278616.4:p.Lys1834Glu
ENST00000683174.1:n.6984A>G
ENST00000683524.1:n.724A>G
ENST00000684152.1:n.1214A>G
ENST00000527805.6:c.*564A>G	ENSP00000435747.2:n.*564A>G
ENST00000675595.1:c.*564A>G	ENSP00000502563.1:n.*564A>G
ENST00000675843.1:c.5500A>G MANE Select	ENSP00000501606.1:p.Lys1834Glu
ENST00000278616.8:c.5500A>G	ENSP00000278616.4:p.Lys1834Glu
ENST00000452508.6:c.5500A>G	ENSP00000388058.2:p.Lys1834Glu
ENST00000524792.5:n.1715A>G
ENST00000529588.5:c.12A>G
ENST00000533690.5:n.904A>G
NM_000051.3:c.5500A>G , LRG_135t1:c.5500A>G	NP_000042.3:p.Lys1834Glu
XM_005271561.3:c.5500A>G	XP_005271618.2:p.Lys1834Glu
XM_005271562.3:c.5500A>G	XP_005271619.2:p.Lys1834Glu
XM_006718843.2:c.5500A>G	XP_006718906.1:p.Lys1834Glu
XM_006718845.1:c.1456A>G	XP_006718908.1:p.Lys486Glu
XM_011542840.1:c.5500A>G	XP_011541142.1:p.Lys1834Glu
XM_011542841.1:c.5500A>G	XP_011541143.1:p.Lys1834Glu
XM_011542842.1:c.5335A>G	XP_011541144.1:p.Lys1779Glu
XM_011542843.1:c.5500A>G	XP_011541145.1:p.Lys1834Glu
XM_011542844.1:c.4456A>G	XP_011541146.1:p.Lys1486Glu
XM_011542845.1:c.4192A>G	XP_011541147.1:p.Lys1398Glu
XM_011542847.1:c.571A>G	XP_011541149.1:p.Lys191Glu
NM_001351834.1:c.5500A>G	NP_001338763.1:p.Lys1834Glu
XM_005271562.5:c.5500A>G	XP_005271619.2:p.Lys1834Glu
XM_006718843.4:c.5500A>G	XP_006718906.1:p.Lys1834Glu
XM_006718845.2:c.1456A>G	XP_006718908.1:p.Lys486Glu
XM_011542840.3:c.5500A>G	XP_011541142.1:p.Lys1834Glu
XM_011542842.3:c.5335A>G	XP_011541144.1:p.Lys1779Glu
XM_011542843.2:c.5500A>G	XP_011541145.1:p.Lys1834Glu
XM_011542844.3:c.4456A>G	XP_011541146.1:p.Lys1486Glu
XM_011542845.2:c.4192A>G	XP_011541147.1:p.Lys1398Glu
XM_017017789.2:c.5500A>G	XP_016873278.1:p.Lys1834Glu
XM_017017790.2:c.5500A>G	XP_016873279.1:p.Lys1834Glu
XM_017017791.1:c.5500A>G	XP_016873280.1:p.Lys1834Glu
XR_002957150.1:n.6100A>G
NM_001351834.2:c.5500A>G	NP_001338763.1:p.Lys1834Glu
NM_000051.4:c.5500A>G MANE Select	NP_000042.3:p.Lys1834Glu