Canonical Allele Identifier: CA10579109

Gene: ATM

Linked Data

• ClinVar Variation Id: 231278
• ClinVar RCV Id: RCV000213580 ; RCV000802075 ; RCV003155932
• dbSNP Id: rs876659067
• MyVariant Identifiers: chr11:g.108151830C>T (hg19) ; chr11:g.108281103C>T (hg38)
• PubMed: PMID:10873394 ; PMID:22071889 ; PMID:28724667

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108281103C>T , CM000673.2:g.108281103C>T	GRCh38
NC_000011.9:g.108151830C>T , CM000673.1:g.108151830C>T	GRCh37
NC_000011.8:g.107657040C>T	NCBI36
NG_009830.1:g.63272C>T , LRG_135:g.63272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3511C>T	ENSP00000388058.2:p.Gln1171Ter
ENST00000713593.1:c.*2982C>T	ENSP00000518889.1:n.*2982C>T
ENST00000278616.9:c.3511C>T	ENSP00000278616.4:p.Gln1171Ter
ENST00000683174.1:n.3661C>T
ENST00000527805.6:c.3511C>T	ENSP00000435747.2:p.Gln1171Ter
ENST00000675595.1:c.3346C>T	ENSP00000502563.1:p.Gln1116Ter
ENST00000675843.1:c.3511C>T MANE Select	ENSP00000501606.1:p.Gln1171Ter
ENST00000278616.8:c.3511C>T	ENSP00000278616.4:p.Gln1171Ter
ENST00000452508.6:c.3511C>T	ENSP00000388058.2:p.Gln1171Ter
ENST00000527805.5:c.3511C>T	ENSP00000435747.1:p.Gln1171Ter
NM_000051.3:c.3511C>T , LRG_135t1:c.3511C>T	NP_000042.3:p.Gln1171Ter
XM_005271561.3:c.3511C>T	XP_005271618.2:p.Gln1171Ter
XM_005271562.3:c.3511C>T	XP_005271619.2:p.Gln1171Ter
XM_006718843.2:c.3511C>T	XP_006718906.1:p.Gln1171Ter
XM_011542840.1:c.3511C>T	XP_011541142.1:p.Gln1171Ter
XM_011542841.1:c.3511C>T	XP_011541143.1:p.Gln1171Ter
XM_011542842.1:c.3346C>T	XP_011541144.1:p.Gln1116Ter
XM_011542843.1:c.3511C>T	XP_011541145.1:p.Gln1171Ter
XM_011542844.1:c.2467C>T	XP_011541146.1:p.Gln823Ter
XM_011542845.1:c.2203C>T	XP_011541147.1:p.Gln735Ter
XM_011542846.1:c.3511C>T	XP_011541148.1:p.Gln1171Ter
NM_001351834.1:c.3511C>T	NP_001338763.1:p.Gln1171Ter
XM_005271562.5:c.3511C>T	XP_005271619.2:p.Gln1171Ter
XM_006718843.4:c.3511C>T	XP_006718906.1:p.Gln1171Ter
XM_011542840.3:c.3511C>T	XP_011541142.1:p.Gln1171Ter
XM_011542842.3:c.3346C>T	XP_011541144.1:p.Gln1116Ter
XM_011542843.2:c.3511C>T	XP_011541145.1:p.Gln1171Ter
XM_011542844.3:c.2467C>T	XP_011541146.1:p.Gln823Ter
XM_011542845.2:c.2203C>T	XP_011541147.1:p.Gln735Ter
XM_017017789.2:c.3511C>T	XP_016873278.1:p.Gln1171Ter
XM_017017790.2:c.3511C>T	XP_016873279.1:p.Gln1171Ter
XM_017017791.1:c.3511C>T	XP_016873280.1:p.Gln1171Ter
XM_017017792.2:c.3511C>T	XP_016873281.1:p.Gln1171Ter
XR_002957150.1:n.4244C>T
NM_001351834.2:c.3511C>T	NP_001338763.1:p.Gln1171Ter
NM_000051.4:c.3511C>T MANE Select	NP_000042.3:p.Gln1171Ter