Canonical Allele Identifier: CA382530546

Gene: ATM

Linked Data

• ClinVar Variation Id: 937558
• ClinVar RCV Id: RCV001206595
• dbSNP Id: rs1565374923
• MyVariant Identifiers: chr11:g.108117706C>A (hg19) ; chr11:g.108246979C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108246979C>A , CM000673.2:g.108246979C>A	GRCh38
NC_000011.9:g.108117706C>A , CM000673.1:g.108117706C>A	GRCh37
NC_000011.8:g.107622916C>A	NCBI36
NG_009830.1:g.29148C>A , LRG_135:g.29148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.917C>A	ENSP00000388058.2:p.Thr306Lys
ENST00000713593.1:c.*388C>A	ENSP00000518889.1:n.*388C>A
ENST00000278616.9:c.917C>A	ENSP00000278616.4:p.Thr306Lys
ENST00000682516.1:n.1051C>A
ENST00000682956.1:n.1051C>A
ENST00000683100.1:n.3264C>A
ENST00000683174.1:n.1067C>A
ENST00000683605.1:n.412C>A
ENST00000684037.1:c.917C>A	ENSP00000508245.1:p.Thr306Lys
ENST00000684061.1:n.1051C>A
ENST00000684179.1:n.886C>A
ENST00000527805.6:c.917C>A	ENSP00000435747.2:p.Thr306Lys
ENST00000675595.1:c.752C>A	ENSP00000502563.1:p.Thr251Lys
ENST00000675843.1:c.917C>A MANE Select	ENSP00000501606.1:p.Thr306Lys
ENST00000278616.8:c.917C>A	ENSP00000278616.4:p.Thr306Lys
ENST00000452508.6:c.917C>A	ENSP00000388058.2:p.Thr306Lys
ENST00000527805.5:c.917C>A	ENSP00000435747.1:p.Thr306Lys
NM_000051.3:c.917C>A , LRG_135t1:c.917C>A	NP_000042.3:p.Thr306Lys
XM_005271561.3:c.917C>A	XP_005271618.2:p.Thr306Lys
XM_005271562.3:c.917C>A	XP_005271619.2:p.Thr306Lys
XM_006718843.2:c.917C>A	XP_006718906.1:p.Thr306Lys
XM_011542840.1:c.917C>A	XP_011541142.1:p.Thr306Lys
XM_011542841.1:c.917C>A	XP_011541143.1:p.Thr306Lys
XM_011542842.1:c.752C>A	XP_011541144.1:p.Thr251Lys
XM_011542843.1:c.917C>A	XP_011541145.1:p.Thr306Lys
XM_011542844.1:c.-128C>A	XP_011541146.1:n.-128C>A
XM_011542846.1:c.917C>A	XP_011541148.1:p.Thr306Lys
NM_001351834.1:c.917C>A	NP_001338763.1:p.Thr306Lys
XM_005271562.5:c.917C>A	XP_005271619.2:p.Thr306Lys
XM_006718843.4:c.917C>A	XP_006718906.1:p.Thr306Lys
XM_011542840.3:c.917C>A	XP_011541142.1:p.Thr306Lys
XM_011542842.3:c.752C>A	XP_011541144.1:p.Thr251Lys
XM_011542843.2:c.917C>A	XP_011541145.1:p.Thr306Lys
XM_011542844.3:c.-128C>A	XP_011541146.1:n.-128C>A
XM_017017789.2:c.917C>A	XP_016873278.1:p.Thr306Lys
XM_017017790.2:c.917C>A	XP_016873279.1:p.Thr306Lys
XM_017017791.1:c.917C>A	XP_016873280.1:p.Thr306Lys
XM_017017792.2:c.917C>A	XP_016873281.1:p.Thr306Lys
XR_002957150.1:n.1650C>A
NM_001351834.2:c.917C>A	NP_001338763.1:p.Thr306Lys
NM_000051.4:c.917C>A MANE Select	NP_000042.3:p.Thr306Lys