Canonical Allele Identifier: CA6264668

Gene: ATM

Linked Data

• ClinVar Variation Id: 1755918
• ClinVar RCV Id: RCV002362217
• dbSNP Id: rs3218706
• ExAC: 11:108115539 A / T
• gnomAD v2: 11-108115539-A-T
• MyVariant Identifiers: chr11:g.108115539A>T (hg19) ; chr11:g.108244812A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244812A>T , CM000673.2:g.108244812A>T	GRCh38
NC_000011.9:g.108115539A>T , CM000673.1:g.108115539A>T	GRCh37
NC_000011.8:g.107620749A>T	NCBI36
NG_009830.1:g.26981A>T , LRG_135:g.26981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.687A>T	ENSP00000388058.2:p.Leu229=
ENST00000713593.1:c.*158A>T	ENSP00000518889.1:n.*158A>T
ENST00000278616.9:c.687A>T	ENSP00000278616.4:p.Leu229=
ENST00000682430.1:n.786A>T
ENST00000682516.1:n.821A>T
ENST00000682956.1:n.821A>T
ENST00000683100.1:n.3034A>T
ENST00000683174.1:n.837A>T
ENST00000683605.1:n.182A>T
ENST00000684037.1:c.687A>T	ENSP00000508245.1:p.Leu229=
ENST00000684061.1:n.821A>T
ENST00000684179.1:n.656A>T
ENST00000527805.6:c.687A>T	ENSP00000435747.2:p.Leu229=
ENST00000675595.1:c.522A>T	ENSP00000502563.1:p.Leu174=
ENST00000675843.1:c.687A>T MANE Select	ENSP00000501606.1:p.Leu229=
ENST00000278616.8:c.687A>T	ENSP00000278616.4:p.Leu229=
ENST00000452508.6:c.687A>T	ENSP00000388058.2:p.Leu229=
ENST00000527805.5:c.687A>T	ENSP00000435747.1:p.Leu229=
NM_000051.3:c.687A>T , LRG_135t1:c.687A>T	NP_000042.3:p.Leu229=
XM_005271561.3:c.687A>T	XP_005271618.2:p.Leu229=
XM_005271562.3:c.687A>T	XP_005271619.2:p.Leu229=
XM_006718843.2:c.687A>T	XP_006718906.1:p.Leu229=
XM_011542840.1:c.687A>T	XP_011541142.1:p.Leu229=
XM_011542841.1:c.687A>T	XP_011541143.1:p.Leu229=
XM_011542842.1:c.522A>T	XP_011541144.1:p.Leu174=
XM_011542843.1:c.687A>T	XP_011541145.1:p.Leu229=
XM_011542844.1:c.-358A>T	XP_011541146.1:n.-358A>T
XM_011542846.1:c.687A>T	XP_011541148.1:p.Leu229=
NM_001351834.1:c.687A>T	NP_001338763.1:p.Leu229=
XM_005271562.5:c.687A>T	XP_005271619.2:p.Leu229=
XM_006718843.4:c.687A>T	XP_006718906.1:p.Leu229=
XM_011542840.3:c.687A>T	XP_011541142.1:p.Leu229=
XM_011542842.3:c.522A>T	XP_011541144.1:p.Leu174=
XM_011542843.2:c.687A>T	XP_011541145.1:p.Leu229=
XM_011542844.3:c.-358A>T	XP_011541146.1:n.-358A>T
XM_017017789.2:c.687A>T	XP_016873278.1:p.Leu229=
XM_017017790.2:c.687A>T	XP_016873279.1:p.Leu229=
XM_017017791.1:c.687A>T	XP_016873280.1:p.Leu229=
XM_017017792.2:c.687A>T	XP_016873281.1:p.Leu229=
XR_002957150.1:n.1420A>T
NM_001351834.2:c.687A>T	NP_001338763.1:p.Leu229=
NM_000051.4:c.687A>T MANE Select	NP_000042.3:p.Leu229=