Canonical Allele Identifier: CA10579253

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 233267
• ClinVar RCV Id: RCV000219784 ; RCV000808849
• dbSNP Id: rs747372355
• MyVariant Identifiers: chr11:g.108199847C>T (hg19) ; chr11:g.108329120C>T (hg38)
• PubMed: PMID:9792409 ; PMID:10980530 ; PMID:16832357

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329120C>T , CM000673.2:g.108329120C>T	GRCh38
NC_000011.9:g.108199847C>T , CM000673.1:g.108199847C>T	GRCh37
NC_000011.8:g.107705057C>T	NCBI36
NG_009830.1:g.111289C>T , LRG_135:g.111289C>T
NG_054724.1:g.145713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7189C>T (ATM)	ENSP00000388058.2:p.Gln2397Ter
ENST00000713593.1:c.*6660C>T (ATM)	ENSP00000518889.1:n.*6660C>T
ENST00000278616.9:c.7189C>T (ATM)	ENSP00000278616.4:p.Gln2397Ter
ENST00000525056.2:n.1608C>T (ATM)
ENST00000525537.3:n.146C>T (ATM)
ENST00000638786.2:n.26C>T (ATM)
ENST00000682286.1:n.1946C>T (ATM)
ENST00000682302.1:n.1607C>T (ATM)
ENST00000683174.1:n.8673C>T (ATM)
ENST00000683524.1:n.2413C>T (ATM)
ENST00000684152.1:n.2903C>T (ATM)
ENST00000684447.1:n.1652C>T (ATM)
ENST00000527805.6:c.*2253C>T (ATM)	ENSP00000435747.2:n.*2253C>T
ENST00000675595.1:c.*2324C>T (ATM)	ENSP00000502563.1:n.*2324C>T
ENST00000675843.1:c.7189C>T (ATM) MANE Select	ENSP00000501606.1:p.Gln2397Ter
ENST00000278616.8:c.7189C>T (ATM)	ENSP00000278616.4:p.Gln2397Ter
ENST00000452508.6:c.7189C>T (ATM)	ENSP00000388058.2:p.Gln2397Ter
ENST00000524792.5:n.3404C>T (ATM)
ENST00000525537.2:n.465C>T (ATM)
ENST00000525729.5:c.641-20049G>A (C11orf65)	ENSP00000433395.1:n.641-20049G>A
ENST00000527389.2:n.214C>T (ATM)
ENST00000533690.5:n.2593C>T (ATM)
NM_000051.3:c.7189C>T , LRG_135t1:c.7189C>T (ATM)	NP_000042.3:p.Gln2397Ter
XM_005271561.3:c.7189C>T (ATM)	XP_005271618.2:p.Gln2397Ter
XM_005271562.3:c.7189C>T (ATM)	XP_005271619.2:p.Gln2397Ter
XM_006718843.2:c.7189C>T (ATM)	XP_006718906.1:p.Gln2397Ter
XM_006718845.1:c.3145C>T (ATM)	XP_006718908.1:p.Gln1049Ter
XM_011542840.1:c.7189C>T (ATM)	XP_011541142.1:p.Gln2397Ter
XM_011542841.1:c.7189C>T (ATM)	XP_011541143.1:p.Gln2397Ter
XM_011542842.1:c.7024C>T (ATM)	XP_011541144.1:p.Gln2342Ter
XM_011542843.1:c.7189C>T (ATM)	XP_011541145.1:p.Gln2397Ter
XM_011542844.1:c.6145C>T (ATM)	XP_011541146.1:p.Gln2049Ter
XM_011542845.1:c.5881C>T (ATM)	XP_011541147.1:p.Gln1961Ter
XM_011542847.1:c.2260C>T (ATM)	XP_011541149.1:p.Gln754Ter
NM_001330368.1:c.641-20049G>A (C11orf65)	NP_001317297.1:n.641-20049G>A
NM_001351110.1:c.*38+6100G>A (C11orf65)	NP_001338039.1:n.*38+6100G>A
NM_001351834.1:c.7189C>T (ATM)	NP_001338763.1:p.Gln2397Ter
XM_005271562.5:c.7189C>T (ATM)	XP_005271619.2:p.Gln2397Ter
XM_006718843.4:c.7189C>T (ATM)	XP_006718906.1:p.Gln2397Ter
XM_006718845.2:c.3145C>T (ATM)	XP_006718908.1:p.Gln1049Ter
XM_011542840.3:c.7189C>T (ATM)	XP_011541142.1:p.Gln2397Ter
XM_011542842.3:c.7024C>T (ATM)	XP_011541144.1:p.Gln2342Ter
XM_011542843.2:c.7189C>T (ATM)	XP_011541145.1:p.Gln2397Ter
XM_011542844.3:c.6145C>T (ATM)	XP_011541146.1:p.Gln2049Ter
XM_011542845.2:c.5881C>T (ATM)	XP_011541147.1:p.Gln1961Ter
XM_017017789.2:c.7189C>T (ATM)	XP_016873278.1:p.Gln2397Ter
XM_017017790.2:c.7189C>T (ATM)	XP_016873279.1:p.Gln2397Ter
NM_001330368.2:c.641-20049G>A (C11orf65)	NP_001317297.1:n.641-20049G>A
NM_001351110.2:c.*38+6100G>A (C11orf65)	NP_001338039.1:n.*38+6100G>A
NM_001351834.2:c.7189C>T (ATM)	NP_001338763.1:p.Gln2397Ter
NM_000051.4:c.7189C>T (ATM) MANE Select	NP_000042.3:p.Gln2397Ter