Canonical Allele Identifier: CA197753

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 187481
• ClinVar RCV Id: RCV000167214 ; RCV000523725 ; RCV000628069 ; RCV003330526 ; RCV003483552
• dbSNP Id: rs786203767
• MyVariant Identifiers: chr11:g.108186787T>G (hg19) ; chr11:g.108316060T>G (hg38)
• PubMed: PMID:25614872

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316060T>G , CM000673.2:g.108316060T>G	GRCh38
NC_000011.9:g.108186787T>G , CM000673.1:g.108186787T>G	GRCh37
NC_000011.8:g.107691997T>G	NCBI36
NG_009830.1:g.98229T>G , LRG_135:g.98229T>G
NG_054724.1:g.158773A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6145T>G (ATM)	ENSP00000388058.2:p.Tyr2049Asp
ENST00000713593.1:c.*5616T>G (ATM)	ENSP00000518889.1:n.*5616T>G
ENST00000278616.9:c.6145T>G (ATM)	ENSP00000278616.4:p.Tyr2049Asp
ENST00000525056.2:n.564T>G (ATM)
ENST00000682286.1:n.902T>G (ATM)
ENST00000682302.1:n.563T>G (ATM)
ENST00000683174.1:n.7629T>G (ATM)
ENST00000683524.1:n.1369T>G (ATM)
ENST00000684152.1:n.1859T>G (ATM)
ENST00000527805.6:c.*1209T>G (ATM)	ENSP00000435747.2:n.*1209T>G
ENST00000675595.1:c.*1209T>G (ATM)	ENSP00000502563.1:n.*1209T>G
ENST00000675843.1:c.6145T>G (ATM) MANE Select	ENSP00000501606.1:p.Tyr2049Asp
ENST00000278616.8:c.6145T>G (ATM)	ENSP00000278616.4:p.Tyr2049Asp
ENST00000452508.6:c.6145T>G (ATM)	ENSP00000388058.2:p.Tyr2049Asp
ENST00000524792.5:n.2360T>G (ATM)
ENST00000525729.5:c.641-6989A>C (C11orf65)	ENSP00000433395.1:n.641-6989A>C
ENST00000532765.1:n.462T>G (ATM)
ENST00000533690.5:n.1549T>G (ATM)
NM_000051.3:c.6145T>G , LRG_135t1:c.6145T>G (ATM)	NP_000042.3:p.Tyr2049Asp
XM_005271561.3:c.6145T>G (ATM)	XP_005271618.2:p.Tyr2049Asp
XM_005271562.3:c.6145T>G (ATM)	XP_005271619.2:p.Tyr2049Asp
XM_006718843.2:c.6145T>G (ATM)	XP_006718906.1:p.Tyr2049Asp
XM_006718845.1:c.2101T>G (ATM)	XP_006718908.1:p.Tyr701Asp
XM_011542840.1:c.6145T>G (ATM)	XP_011541142.1:p.Tyr2049Asp
XM_011542841.1:c.6145T>G (ATM)	XP_011541143.1:p.Tyr2049Asp
XM_011542842.1:c.5980T>G (ATM)	XP_011541144.1:p.Tyr1994Asp
XM_011542843.1:c.6145T>G (ATM)	XP_011541145.1:p.Tyr2049Asp
XM_011542844.1:c.5101T>G (ATM)	XP_011541146.1:p.Tyr1701Asp
XM_011542845.1:c.4837T>G (ATM)	XP_011541147.1:p.Tyr1613Asp
XM_011542847.1:c.1216T>G (ATM)	XP_011541149.1:p.Tyr406Asp
NM_001330368.1:c.641-6989A>C (C11orf65)	NP_001317297.1:n.641-6989A>C
NM_001351110.1:c.*39-6989A>C (C11orf65)	NP_001338039.1:n.*39-6989A>C
NM_001351834.1:c.6145T>G (ATM)	NP_001338763.1:p.Tyr2049Asp
XM_005271562.5:c.6145T>G (ATM)	XP_005271619.2:p.Tyr2049Asp
XM_006718843.4:c.6145T>G (ATM)	XP_006718906.1:p.Tyr2049Asp
XM_006718845.2:c.2101T>G (ATM)	XP_006718908.1:p.Tyr701Asp
XM_011542840.3:c.6145T>G (ATM)	XP_011541142.1:p.Tyr2049Asp
XM_011542842.3:c.5980T>G (ATM)	XP_011541144.1:p.Tyr1994Asp
XM_011542843.2:c.6145T>G (ATM)	XP_011541145.1:p.Tyr2049Asp
XM_011542844.3:c.5101T>G (ATM)	XP_011541146.1:p.Tyr1701Asp
XM_011542845.2:c.4837T>G (ATM)	XP_011541147.1:p.Tyr1613Asp
XM_017017789.2:c.6145T>G (ATM)	XP_016873278.1:p.Tyr2049Asp
XM_017017790.2:c.6145T>G (ATM)	XP_016873279.1:p.Tyr2049Asp
XM_017017791.1:c.6145T>G (ATM)	XP_016873280.1:p.Tyr2049Asp
NM_001330368.2:c.641-6989A>C (C11orf65)	NP_001317297.1:n.641-6989A>C
NM_001351110.2:c.*39-6989A>C (C11orf65)	NP_001338039.1:n.*39-6989A>C
NM_001351834.2:c.6145T>G (ATM)	NP_001338763.1:p.Tyr2049Asp
NM_000051.4:c.6145T>G (ATM) MANE Select	NP_000042.3:p.Tyr2049Asp