Canonical Allele Identifier: CA10579177

Gene: ATM

Linked Data

• ClinVar Variation Id: 233078
• ClinVar RCV Id: RCV000214126 ; RCV002519724
• dbSNP Id: rs876660175
• COSMIC: COSM6199197 ; COSM6199198
• MyVariant Identifiers: chr11:g.108172517G>A (hg19) ; chr11:g.108301790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301790G>A , CM000673.2:g.108301790G>A	GRCh38
NC_000011.9:g.108172517G>A , CM000673.1:g.108172517G>A	GRCh37
NC_000011.8:g.107677727G>A	NCBI36
NG_009830.1:g.83959G>A , LRG_135:g.83959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5319+1G>A	ENSP00000388058.2:n.5319+1G>A
ENST00000713593.1:c.*4790+1G>A	ENSP00000518889.1:n.*4790+1G>A
ENST00000278616.9:c.5319+1G>A	ENSP00000278616.4:n.5319+1G>A
ENST00000683174.1:n.6803+1G>A
ENST00000683524.1:n.543+1G>A
ENST00000684152.1:n.1033+1G>A
ENST00000527805.6:c.*383+1G>A	ENSP00000435747.2:n.*383+1G>A
ENST00000675595.1:c.*383+1G>A	ENSP00000502563.1:n.*383+1G>A
ENST00000675843.1:c.5319+1G>A MANE Select	ENSP00000501606.1:n.5319+1G>A
ENST00000278616.8:c.5319+1G>A	ENSP00000278616.4:n.5319+1G>A
ENST00000452508.6:c.5319+1G>A	ENSP00000388058.2:n.5319+1G>A
ENST00000524792.5:n.1534+1G>A
ENST00000533690.5:n.723+1G>A
ENST00000534625.1:n.548+1G>A
NM_000051.3:c.5319+1G>A , LRG_135t1:c.5319+1G>A	NP_000042.3:n.5319+1G>A
XM_005271561.3:c.5319+1G>A	XP_005271618.2:n.5319+1G>A
XM_005271562.3:c.5319+1G>A	XP_005271619.2:n.5319+1G>A
XM_006718843.2:c.5319+1G>A	XP_006718906.1:n.5319+1G>A
XM_006718845.1:c.1275+1G>A	XP_006718908.1:n.1275+1G>A
XM_011542840.1:c.5319+1G>A	XP_011541142.1:n.5319+1G>A
XM_011542841.1:c.5319+1G>A	XP_011541143.1:n.5319+1G>A
XM_011542842.1:c.5154+1G>A	XP_011541144.1:n.5154+1G>A
XM_011542843.1:c.5319+1G>A	XP_011541145.1:n.5319+1G>A
XM_011542844.1:c.4275+1G>A	XP_011541146.1:n.4275+1G>A
XM_011542845.1:c.4011+1G>A	XP_011541147.1:n.4011+1G>A
XM_011542846.1:c.5318+2G>A	XP_011541148.1:n.5318+2G>A
XM_011542847.1:c.390+1G>A	XP_011541149.1:n.390+1G>A
NM_001351834.1:c.5319+1G>A	NP_001338763.1:n.5319+1G>A
XM_005271562.5:c.5319+1G>A	XP_005271619.2:n.5319+1G>A
XM_006718843.4:c.5319+1G>A	XP_006718906.1:n.5319+1G>A
XM_006718845.2:c.1275+1G>A	XP_006718908.1:n.1275+1G>A
XM_011542840.3:c.5319+1G>A	XP_011541142.1:n.5319+1G>A
XM_011542842.3:c.5154+1G>A	XP_011541144.1:n.5154+1G>A
XM_011542843.2:c.5319+1G>A	XP_011541145.1:n.5319+1G>A
XM_011542844.3:c.4275+1G>A	XP_011541146.1:n.4275+1G>A
XM_011542845.2:c.4011+1G>A	XP_011541147.1:n.4011+1G>A
XM_017017789.2:c.5319+1G>A	XP_016873278.1:n.5319+1G>A
XM_017017790.2:c.5319+1G>A	XP_016873279.1:n.5319+1G>A
XM_017017791.1:c.5319+1G>A	XP_016873280.1:n.5319+1G>A
XM_017017792.2:c.5320G>A	XP_016873281.1:p.Val1774Ile
XR_002957150.1:n.5919+1G>A
NM_001351834.2:c.5319+1G>A	NP_001338763.1:n.5319+1G>A
NM_000051.4:c.5319+1G>A MANE Select	NP_000042.3:n.5319+1G>A