Canonical Allele Identifier: CA382545292

Gene: ATM

Linked Data

• ClinVar Variation Id: 479053
• ClinVar RCV Id: RCV000628118 ; RCV000562509 ; RCV000679106 ; RCV003321672
• dbSNP Id: rs368047468
• gnomAD v4: 11-108268487-T-A
• MyVariant Identifiers: chr11:g.108139214T>A (hg19) ; chr11:g.108268487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268487T>A , CM000673.2:g.108268487T>A	GRCh38
NC_000011.9:g.108139214T>A , CM000673.1:g.108139214T>A	GRCh37
NC_000011.8:g.107644424T>A	NCBI36
NG_009830.1:g.50656T>A , LRG_135:g.50656T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2716T>A	ENSP00000388058.2:p.Leu906Met
ENST00000713593.1:c.*2187T>A	ENSP00000518889.1:n.*2187T>A
ENST00000278616.9:c.2716T>A	ENSP00000278616.4:p.Leu906Met
ENST00000682516.1:n.2772+1145T>A
ENST00000683174.1:n.2866T>A
ENST00000684037.1:c.*1573+1145T>A	ENSP00000508245.1:n.*1573+1145T>A
ENST00000527805.6:c.2716T>A	ENSP00000435747.2:p.Leu906Met
ENST00000675595.1:c.2551T>A	ENSP00000502563.1:p.Leu851Met
ENST00000675843.1:c.2716T>A MANE Select	ENSP00000501606.1:p.Leu906Met
ENST00000278616.8:c.2716T>A	ENSP00000278616.4:p.Leu906Met
ENST00000419286.2:n.78T>A
ENST00000452508.6:c.2716T>A	ENSP00000388058.2:p.Leu906Met
ENST00000527805.5:c.2716T>A	ENSP00000435747.1:p.Leu906Met
NM_000051.3:c.2716T>A , LRG_135t1:c.2716T>A	NP_000042.3:p.Leu906Met
XM_005271561.3:c.2716T>A	XP_005271618.2:p.Leu906Met
XM_005271562.3:c.2716T>A	XP_005271619.2:p.Leu906Met
XM_006718843.2:c.2716T>A	XP_006718906.1:p.Leu906Met
XM_011542840.1:c.2716T>A	XP_011541142.1:p.Leu906Met
XM_011542841.1:c.2716T>A	XP_011541143.1:p.Leu906Met
XM_011542842.1:c.2551T>A	XP_011541144.1:p.Leu851Met
XM_011542843.1:c.2716T>A	XP_011541145.1:p.Leu906Met
XM_011542844.1:c.1672T>A	XP_011541146.1:p.Leu558Met
XM_011542845.1:c.1408T>A	XP_011541147.1:p.Leu470Met
XM_011542846.1:c.2716T>A	XP_011541148.1:p.Leu906Met
NM_001351834.1:c.2716T>A	NP_001338763.1:p.Leu906Met
XM_005271562.5:c.2716T>A	XP_005271619.2:p.Leu906Met
XM_006718843.4:c.2716T>A	XP_006718906.1:p.Leu906Met
XM_011542840.3:c.2716T>A	XP_011541142.1:p.Leu906Met
XM_011542842.3:c.2551T>A	XP_011541144.1:p.Leu851Met
XM_011542843.2:c.2716T>A	XP_011541145.1:p.Leu906Met
XM_011542844.3:c.1672T>A	XP_011541146.1:p.Leu558Met
XM_011542845.2:c.1408T>A	XP_011541147.1:p.Leu470Met
XM_017017789.2:c.2716T>A	XP_016873278.1:p.Leu906Met
XM_017017790.2:c.2716T>A	XP_016873279.1:p.Leu906Met
XM_017017791.1:c.2716T>A	XP_016873280.1:p.Leu906Met
XM_017017792.2:c.2716T>A	XP_016873281.1:p.Leu906Met
XR_002957150.1:n.3449T>A
NM_001351834.2:c.2716T>A	NP_001338763.1:p.Leu906Met
NM_000051.4:c.2716T>A MANE Select	NP_000042.3:p.Leu906Met