Canonical Allele Identifier: CA353545

Gene: ATM

Linked Data

• ClinVar Variation Id: 224518
• ClinVar RCV Id: RCV000210197 ; RCV000234068 ; RCV000255389 ; RCV004020572
• dbSNP Id: rs869312755
• gnomAD v4: 11-108293436-C-T
• MyVariant Identifiers: chr11:g.108164163C>T (hg19) ; chr11:g.108293436C>T (hg38)
• PubMed: PMID:20153123 ; PMID:25037873 ; PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108293436C>T , CM000673.2:g.108293436C>T	GRCh38
NC_000011.9:g.108164163C>T , CM000673.1:g.108164163C>T	GRCh37
NC_000011.8:g.107669373C>T	NCBI36
NG_009830.1:g.75605C>T , LRG_135:g.75605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4735C>T	ENSP00000388058.2:p.Gln1579Ter
ENST00000713593.1:c.*4206C>T	ENSP00000518889.1:n.*4206C>T
ENST00000278616.9:c.4735C>T	ENSP00000278616.4:p.Gln1579Ter
ENST00000683174.1:n.4885C>T
ENST00000683524.1:n.92C>T
ENST00000527805.6:c.4611+643C>T	ENSP00000435747.2:n.4611+643C>T
ENST00000675595.1:c.4570C>T	ENSP00000502563.1:p.Gln1524Ter
ENST00000675843.1:c.4735C>T MANE Select	ENSP00000501606.1:p.Gln1579Ter
ENST00000278616.8:c.4735C>T	ENSP00000278616.4:p.Gln1579Ter
ENST00000452508.6:c.4735C>T	ENSP00000388058.2:p.Gln1579Ter
ENST00000524792.5:n.950C>T
ENST00000531525.2:c.444-1491C>T	ENSP00000434327.2:n.444-1491C>T
ENST00000531957.1:n.52C>T
NM_000051.3:c.4735C>T , LRG_135t1:c.4735C>T	NP_000042.3:p.Gln1579Ter
XM_005271561.3:c.4735C>T	XP_005271618.2:p.Gln1579Ter
XM_005271562.3:c.4735C>T	XP_005271619.2:p.Gln1579Ter
XM_006718843.2:c.4735C>T	XP_006718906.1:p.Gln1579Ter
XM_006718845.1:c.691C>T	XP_006718908.1:p.Gln231Ter
XM_011542840.1:c.4735C>T	XP_011541142.1:p.Gln1579Ter
XM_011542841.1:c.4735C>T	XP_011541143.1:p.Gln1579Ter
XM_011542842.1:c.4570C>T	XP_011541144.1:p.Gln1524Ter
XM_011542843.1:c.4735C>T	XP_011541145.1:p.Gln1579Ter
XM_011542844.1:c.3691C>T	XP_011541146.1:p.Gln1231Ter
XM_011542845.1:c.3427C>T	XP_011541147.1:p.Gln1143Ter
XM_011542846.1:c.4735C>T	XP_011541148.1:p.Gln1579Ter
NM_001351834.1:c.4735C>T	NP_001338763.1:p.Gln1579Ter
XM_005271562.5:c.4735C>T	XP_005271619.2:p.Gln1579Ter
XM_006718843.4:c.4735C>T	XP_006718906.1:p.Gln1579Ter
XM_006718845.2:c.691C>T	XP_006718908.1:p.Gln231Ter
XM_011542840.3:c.4735C>T	XP_011541142.1:p.Gln1579Ter
XM_011542842.3:c.4570C>T	XP_011541144.1:p.Gln1524Ter
XM_011542843.2:c.4735C>T	XP_011541145.1:p.Gln1579Ter
XM_011542844.3:c.3691C>T	XP_011541146.1:p.Gln1231Ter
XM_011542845.2:c.3427C>T	XP_011541147.1:p.Gln1143Ter
XM_017017789.2:c.4735C>T	XP_016873278.1:p.Gln1579Ter
XM_017017790.2:c.4735C>T	XP_016873279.1:p.Gln1579Ter
XM_017017791.1:c.4735C>T	XP_016873280.1:p.Gln1579Ter
XM_017017792.2:c.4735C>T	XP_016873281.1:p.Gln1579Ter
XR_002957150.1:n.5468C>T
NM_001351834.2:c.4735C>T	NP_001338763.1:p.Gln1579Ter
NM_000051.4:c.4735C>T MANE Select	NP_000042.3:p.Gln1579Ter