Canonical Allele Identifier: CA6264716

Gene: ATM

Linked Data

• ClinVar Variation Id: 644228
• ClinVar RCV Id: RCV000798104 ; RCV002386409
• dbSNP Id: rs1060501664
• ExAC: 11:108117784 A / G
• gnomAD v2: 11-108117784-A-G
• gnomAD v4: 11-108247057-A-G
• COSMIC: COSM21641
• MyVariant Identifiers: chr11:g.108117784A>G (hg19) ; chr11:g.108117784_108117787delinsGTTC (hg19) ; chr11:g.108247057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247057A>G , CM000673.2:g.108247057A>G	GRCh38
NC_000011.9:g.108117784A>G , CM000673.1:g.108117784A>G	GRCh37
NC_000011.8:g.107622994A>G	NCBI36
NG_009830.1:g.29226A>G , LRG_135:g.29226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.995A>G	ENSP00000388058.2:p.Tyr332Cys
ENST00000713593.1:c.*466A>G	ENSP00000518889.1:n.*466A>G
ENST00000278616.9:c.995A>G	ENSP00000278616.4:p.Tyr332Cys
ENST00000682516.1:n.1129A>G
ENST00000682956.1:n.1129A>G
ENST00000683100.1:n.3342A>G
ENST00000683174.1:n.1145A>G
ENST00000683605.1:n.490A>G
ENST00000684037.1:c.995A>G	ENSP00000508245.1:p.Tyr332Cys
ENST00000684061.1:n.1129A>G
ENST00000684179.1:n.964A>G
ENST00000527805.6:c.995A>G	ENSP00000435747.2:p.Tyr332Cys
ENST00000675595.1:c.830A>G	ENSP00000502563.1:p.Tyr277Cys
ENST00000675843.1:c.995A>G MANE Select	ENSP00000501606.1:p.Tyr332Cys
ENST00000278616.8:c.995A>G	ENSP00000278616.4:p.Tyr332Cys
ENST00000452508.6:c.995A>G	ENSP00000388058.2:p.Tyr332Cys
ENST00000527805.5:c.995A>G	ENSP00000435747.1:p.Tyr332Cys
NM_000051.3:c.995A>G , LRG_135t1:c.995A>G	NP_000042.3:p.Tyr332Cys
XM_005271561.3:c.995A>G	XP_005271618.2:p.Tyr332Cys
XM_005271562.3:c.995A>G	XP_005271619.2:p.Tyr332Cys
XM_006718843.2:c.995A>G	XP_006718906.1:p.Tyr332Cys
XM_011542840.1:c.995A>G	XP_011541142.1:p.Tyr332Cys
XM_011542841.1:c.995A>G	XP_011541143.1:p.Tyr332Cys
XM_011542842.1:c.830A>G	XP_011541144.1:p.Tyr277Cys
XM_011542843.1:c.995A>G	XP_011541145.1:p.Tyr332Cys
XM_011542844.1:c.-50A>G	XP_011541146.1:n.-50A>G
XM_011542845.1:c.-144A>G	XP_011541147.1:n.-144A>G
XM_011542846.1:c.995A>G	XP_011541148.1:p.Tyr332Cys
NM_001351834.1:c.995A>G	NP_001338763.1:p.Tyr332Cys
XM_005271562.5:c.995A>G	XP_005271619.2:p.Tyr332Cys
XM_006718843.4:c.995A>G	XP_006718906.1:p.Tyr332Cys
XM_011542840.3:c.995A>G	XP_011541142.1:p.Tyr332Cys
XM_011542842.3:c.830A>G	XP_011541144.1:p.Tyr277Cys
XM_011542843.2:c.995A>G	XP_011541145.1:p.Tyr332Cys
XM_011542844.3:c.-50A>G	XP_011541146.1:n.-50A>G
XM_011542845.2:c.-144A>G	XP_011541147.1:n.-144A>G
XM_017017789.2:c.995A>G	XP_016873278.1:p.Tyr332Cys
XM_017017790.2:c.995A>G	XP_016873279.1:p.Tyr332Cys
XM_017017791.1:c.995A>G	XP_016873280.1:p.Tyr332Cys
XM_017017792.2:c.995A>G	XP_016873281.1:p.Tyr332Cys
XR_002957150.1:n.1728A>G
NM_001351834.2:c.995A>G	NP_001338763.1:p.Tyr332Cys
NM_000051.4:c.995A>G MANE Select	NP_000042.3:p.Tyr332Cys