Canonical Allele Identifier: CA274462

Gene: ATM

Linked Data

• ClinVar Variation Id: 189177
• ClinVar RCV Id: RCV000169605 ; RCV000777919 ; RCV001579826 ; RCV001310117
• dbSNP Id: rs786204751
• gnomAD v4: 11-108304693-C-T
• MyVariant Identifiers: chr11:g.108175420C>T (hg19) ; chr11:g.108304693C>T (hg38)
• PubMed: PMID:9792409 ; PMID:10873394 ; PMID:15928302 ; PMID:22213089 ; PMID:22649200

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304693C>T , CM000673.2:g.108304693C>T	GRCh38
NC_000011.9:g.108175420C>T , CM000673.1:g.108175420C>T	GRCh37
NC_000011.8:g.107680630C>T	NCBI36
NG_009830.1:g.86862C>T , LRG_135:g.86862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5515C>T	ENSP00000388058.2:p.Gln1839Ter
ENST00000713593.1:c.*4986C>T	ENSP00000518889.1:n.*4986C>T
ENST00000278616.9:c.5515C>T	ENSP00000278616.4:p.Gln1839Ter
ENST00000683174.1:n.6999C>T
ENST00000683524.1:n.739C>T
ENST00000684152.1:n.1229C>T
ENST00000527805.6:c.*579C>T	ENSP00000435747.2:n.*579C>T
ENST00000675595.1:c.*579C>T	ENSP00000502563.1:n.*579C>T
ENST00000675843.1:c.5515C>T MANE Select	ENSP00000501606.1:p.Gln1839Ter
ENST00000278616.8:c.5515C>T	ENSP00000278616.4:p.Gln1839Ter
ENST00000452508.6:c.5515C>T	ENSP00000388058.2:p.Gln1839Ter
ENST00000524792.5:n.1730C>T
ENST00000529588.5:c.27C>T
ENST00000533690.5:n.919C>T
NM_000051.3:c.5515C>T , LRG_135t1:c.5515C>T	NP_000042.3:p.Gln1839Ter
XM_005271561.3:c.5515C>T	XP_005271618.2:p.Gln1839Ter
XM_005271562.3:c.5515C>T	XP_005271619.2:p.Gln1839Ter
XM_006718843.2:c.5515C>T	XP_006718906.1:p.Gln1839Ter
XM_006718845.1:c.1471C>T	XP_006718908.1:p.Gln491Ter
XM_011542840.1:c.5515C>T	XP_011541142.1:p.Gln1839Ter
XM_011542841.1:c.5515C>T	XP_011541143.1:p.Gln1839Ter
XM_011542842.1:c.5350C>T	XP_011541144.1:p.Gln1784Ter
XM_011542843.1:c.5515C>T	XP_011541145.1:p.Gln1839Ter
XM_011542844.1:c.4471C>T	XP_011541146.1:p.Gln1491Ter
XM_011542845.1:c.4207C>T	XP_011541147.1:p.Gln1403Ter
XM_011542847.1:c.586C>T	XP_011541149.1:p.Gln196Ter
NM_001351834.1:c.5515C>T	NP_001338763.1:p.Gln1839Ter
XM_005271562.5:c.5515C>T	XP_005271619.2:p.Gln1839Ter
XM_006718843.4:c.5515C>T	XP_006718906.1:p.Gln1839Ter
XM_006718845.2:c.1471C>T	XP_006718908.1:p.Gln491Ter
XM_011542840.3:c.5515C>T	XP_011541142.1:p.Gln1839Ter
XM_011542842.3:c.5350C>T	XP_011541144.1:p.Gln1784Ter
XM_011542843.2:c.5515C>T	XP_011541145.1:p.Gln1839Ter
XM_011542844.3:c.4471C>T	XP_011541146.1:p.Gln1491Ter
XM_011542845.2:c.4207C>T	XP_011541147.1:p.Gln1403Ter
XM_017017789.2:c.5515C>T	XP_016873278.1:p.Gln1839Ter
XM_017017790.2:c.5515C>T	XP_016873279.1:p.Gln1839Ter
XM_017017791.1:c.5515C>T	XP_016873280.1:p.Gln1839Ter
XR_002957150.1:n.6115C>T
NM_001351834.2:c.5515C>T	NP_001338763.1:p.Gln1839Ter
NM_000051.4:c.5515C>T MANE Select	NP_000042.3:p.Gln1839Ter