Canonical Allele Identifier: CA476675161

Gene: ATM

Linked Data

• ClinVar Variation Id: 490616
• ClinVar RCV Id: RCV000582344 ; RCV003500574
• dbSNP Id: rs1555107464
• MyVariant Identifiers: chr11:g.108175506G>A (hg19) ; chr11:g.108304779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304779G>A , CM000673.2:g.108304779G>A	GRCh38
NC_000011.9:g.108175506G>A , CM000673.1:g.108175506G>A	GRCh37
NC_000011.8:g.107680716G>A	NCBI36
NG_009830.1:g.86948G>A , LRG_135:g.86948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5601G>A	ENSP00000388058.2:p.Gln1867=
ENST00000713593.1:c.*5072G>A	ENSP00000518889.1:n.*5072G>A
ENST00000278616.9:c.5601G>A	ENSP00000278616.4:p.Gln1867=
ENST00000683174.1:n.7085G>A
ENST00000683524.1:n.825G>A
ENST00000684152.1:n.1315G>A
ENST00000527805.6:c.*665G>A	ENSP00000435747.2:n.*665G>A
ENST00000675595.1:c.*665G>A	ENSP00000502563.1:n.*665G>A
ENST00000675843.1:c.5601G>A MANE Select	ENSP00000501606.1:p.Gln1867=
ENST00000278616.8:c.5601G>A	ENSP00000278616.4:p.Gln1867=
ENST00000452508.6:c.5601G>A	ENSP00000388058.2:p.Gln1867=
ENST00000524792.5:n.1816G>A
ENST00000529588.5:c.113G>A
ENST00000533690.5:n.1005G>A
NM_000051.3:c.5601G>A , LRG_135t1:c.5601G>A	NP_000042.3:p.Gln1867=
XM_005271561.3:c.5601G>A	XP_005271618.2:p.Gln1867=
XM_005271562.3:c.5601G>A	XP_005271619.2:p.Gln1867=
XM_006718843.2:c.5601G>A	XP_006718906.1:p.Gln1867=
XM_006718845.1:c.1557G>A	XP_006718908.1:p.Gln519=
XM_011542840.1:c.5601G>A	XP_011541142.1:p.Gln1867=
XM_011542841.1:c.5601G>A	XP_011541143.1:p.Gln1867=
XM_011542842.1:c.5436G>A	XP_011541144.1:p.Gln1812=
XM_011542843.1:c.5601G>A	XP_011541145.1:p.Gln1867=
XM_011542844.1:c.4557G>A	XP_011541146.1:p.Gln1519=
XM_011542845.1:c.4293G>A	XP_011541147.1:p.Gln1431=
XM_011542847.1:c.672G>A	XP_011541149.1:p.Gln224=
NM_001351834.1:c.5601G>A	NP_001338763.1:p.Gln1867=
XM_005271562.5:c.5601G>A	XP_005271619.2:p.Gln1867=
XM_006718843.4:c.5601G>A	XP_006718906.1:p.Gln1867=
XM_006718845.2:c.1557G>A	XP_006718908.1:p.Gln519=
XM_011542840.3:c.5601G>A	XP_011541142.1:p.Gln1867=
XM_011542842.3:c.5436G>A	XP_011541144.1:p.Gln1812=
XM_011542843.2:c.5601G>A	XP_011541145.1:p.Gln1867=
XM_011542844.3:c.4557G>A	XP_011541146.1:p.Gln1519=
XM_011542845.2:c.4293G>A	XP_011541147.1:p.Gln1431=
XM_017017789.2:c.5601G>A	XP_016873278.1:p.Gln1867=
XM_017017790.2:c.5601G>A	XP_016873279.1:p.Gln1867=
XM_017017791.1:c.5601G>A	XP_016873280.1:p.Gln1867=
XR_002957150.1:n.6201G>A
NM_001351834.2:c.5601G>A	NP_001338763.1:p.Gln1867=
NM_000051.4:c.5601G>A MANE Select	NP_000042.3:p.Gln1867=