Canonical Allele Identifier: CA195908

Gene: ATM

Linked Data

• ClinVar Variation Id: 186801
• ClinVar RCV Id: RCV000166452 ; RCV000235690 ; RCV001071389
• dbSNP Id: rs786203230
• gnomAD v4: 11-108251929-A-G
• MyVariant Identifiers: chr11:g.108122656A>G (hg19) ; chr11:g.108251929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251929A>G , CM000673.2:g.108251929A>G	GRCh38
NC_000011.9:g.108122656A>G , CM000673.1:g.108122656A>G	GRCh37
NC_000011.8:g.107627866A>G	NCBI36
NG_009830.1:g.34098A>G , LRG_135:g.34098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1700A>G	ENSP00000388058.2:p.Asn567Ser
ENST00000713593.1:c.*1171A>G	ENSP00000518889.1:n.*1171A>G
ENST00000278616.9:c.1700A>G	ENSP00000278616.4:p.Asn567Ser
ENST00000682516.1:n.1834A>G
ENST00000683174.1:n.1850A>G
ENST00000683605.1:n.1195A>G
ENST00000684037.1:c.*635A>G	ENSP00000508245.1:n.*635A>G
ENST00000684061.1:n.1834A>G
ENST00000527805.6:c.1700A>G	ENSP00000435747.2:p.Asn567Ser
ENST00000675595.1:c.1535A>G	ENSP00000502563.1:p.Asn512Ser
ENST00000675843.1:c.1700A>G MANE Select	ENSP00000501606.1:p.Asn567Ser
ENST00000278616.8:c.1700A>G	ENSP00000278616.4:p.Asn567Ser
ENST00000452508.6:c.1700A>G	ENSP00000388058.2:p.Asn567Ser
ENST00000527805.5:c.1700A>G	ENSP00000435747.1:p.Asn567Ser
NM_000051.3:c.1700A>G , LRG_135t1:c.1700A>G	NP_000042.3:p.Asn567Ser
XM_005271561.3:c.1700A>G	XP_005271618.2:p.Asn567Ser
XM_005271562.3:c.1700A>G	XP_005271619.2:p.Asn567Ser
XM_006718843.2:c.1700A>G	XP_006718906.1:p.Asn567Ser
XM_011542840.1:c.1700A>G	XP_011541142.1:p.Asn567Ser
XM_011542841.1:c.1700A>G	XP_011541143.1:p.Asn567Ser
XM_011542842.1:c.1535A>G	XP_011541144.1:p.Asn512Ser
XM_011542843.1:c.1700A>G	XP_011541145.1:p.Asn567Ser
XM_011542844.1:c.656A>G	XP_011541146.1:p.Asn219Ser
XM_011542845.1:c.392A>G	XP_011541147.1:p.Asn131Ser
XM_011542846.1:c.1700A>G	XP_011541148.1:p.Asn567Ser
NM_001351834.1:c.1700A>G	NP_001338763.1:p.Asn567Ser
XM_005271562.5:c.1700A>G	XP_005271619.2:p.Asn567Ser
XM_006718843.4:c.1700A>G	XP_006718906.1:p.Asn567Ser
XM_011542840.3:c.1700A>G	XP_011541142.1:p.Asn567Ser
XM_011542842.3:c.1535A>G	XP_011541144.1:p.Asn512Ser
XM_011542843.2:c.1700A>G	XP_011541145.1:p.Asn567Ser
XM_011542844.3:c.656A>G	XP_011541146.1:p.Asn219Ser
XM_011542845.2:c.392A>G	XP_011541147.1:p.Asn131Ser
XM_017017789.2:c.1700A>G	XP_016873278.1:p.Asn567Ser
XM_017017790.2:c.1700A>G	XP_016873279.1:p.Asn567Ser
XM_017017791.1:c.1700A>G	XP_016873280.1:p.Asn567Ser
XM_017017792.2:c.1700A>G	XP_016873281.1:p.Asn567Ser
XR_002957150.1:n.2433A>G
NM_001351834.2:c.1700A>G	NP_001338763.1:p.Asn567Ser
NM_000051.4:c.1700A>G MANE Select	NP_000042.3:p.Asn567Ser