Canonical Allele Identifier: CA382548319

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 959668
• ClinVar RCV Id: RCV001233055 ; RCV002357002
• dbSNP Id: rs756661278
• MyVariant Identifiers: chr11:g.108180910A>T (hg19) ; chr11:g.108310183A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310183A>T , CM000673.2:g.108310183A>T	GRCh38
NC_000011.9:g.108180910A>T , CM000673.1:g.108180910A>T	GRCh37
NC_000011.8:g.107686120A>T	NCBI36
NG_009830.1:g.92352A>T , LRG_135:g.92352A>T
NG_054724.1:g.164650T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5786A>T (ATM)	ENSP00000388058.2:p.Asn1929Ile
ENST00000713593.1:c.*5257A>T (ATM)	ENSP00000518889.1:n.*5257A>T
ENST00000278616.9:c.5786A>T (ATM)	ENSP00000278616.4:p.Asn1929Ile
ENST00000525056.2:n.205A>T (ATM)
ENST00000682286.1:n.543A>T (ATM)
ENST00000682302.1:n.204A>T (ATM)
ENST00000683174.1:n.7270A>T (ATM)
ENST00000683524.1:n.1010A>T (ATM)
ENST00000684152.1:n.1500A>T (ATM)
ENST00000527805.6:c.*850A>T (ATM)	ENSP00000435747.2:n.*850A>T
ENST00000675595.1:c.*850A>T (ATM)	ENSP00000502563.1:n.*850A>T
ENST00000675843.1:c.5786A>T (ATM) MANE Select	ENSP00000501606.1:p.Asn1929Ile
ENST00000278616.8:c.5786A>T (ATM)	ENSP00000278616.4:p.Asn1929Ile
ENST00000452508.6:c.5786A>T (ATM)	ENSP00000388058.2:p.Asn1929Ile
ENST00000524792.5:n.2001A>T (ATM)
ENST00000525729.5:c.641-1112T>A (C11orf65)	ENSP00000433395.1:n.641-1112T>A
ENST00000529588.5:c.210A>T (ATM)
ENST00000532765.1:n.103A>T (ATM)
ENST00000533690.5:n.1190A>T (ATM)
NM_000051.3:c.5786A>T , LRG_135t1:c.5786A>T (ATM)	NP_000042.3:p.Asn1929Ile
XM_005271561.3:c.5786A>T (ATM)	XP_005271618.2:p.Asn1929Ile
XM_005271562.3:c.5786A>T (ATM)	XP_005271619.2:p.Asn1929Ile
XM_006718843.2:c.5786A>T (ATM)	XP_006718906.1:p.Asn1929Ile
XM_006718845.1:c.1742A>T (ATM)	XP_006718908.1:p.Asn581Ile
XM_011542840.1:c.5786A>T (ATM)	XP_011541142.1:p.Asn1929Ile
XM_011542841.1:c.5786A>T (ATM)	XP_011541143.1:p.Asn1929Ile
XM_011542842.1:c.5621A>T (ATM)	XP_011541144.1:p.Asn1874Ile
XM_011542843.1:c.5786A>T (ATM)	XP_011541145.1:p.Asn1929Ile
XM_011542844.1:c.4742A>T (ATM)	XP_011541146.1:p.Asn1581Ile
XM_011542845.1:c.4478A>T (ATM)	XP_011541147.1:p.Asn1493Ile
XM_011542847.1:c.857A>T (ATM)	XP_011541149.1:p.Asn286Ile
NM_001330368.1:c.641-1112T>A (C11orf65)	NP_001317297.1:n.641-1112T>A
NM_001351110.1:c.*39-1112T>A (C11orf65)	NP_001338039.1:n.*39-1112T>A
NM_001351834.1:c.5786A>T (ATM)	NP_001338763.1:p.Asn1929Ile
XM_005271562.5:c.5786A>T (ATM)	XP_005271619.2:p.Asn1929Ile
XM_006718843.4:c.5786A>T (ATM)	XP_006718906.1:p.Asn1929Ile
XM_006718845.2:c.1742A>T (ATM)	XP_006718908.1:p.Asn581Ile
XM_011542840.3:c.5786A>T (ATM)	XP_011541142.1:p.Asn1929Ile
XM_011542842.3:c.5621A>T (ATM)	XP_011541144.1:p.Asn1874Ile
XM_011542843.2:c.5786A>T (ATM)	XP_011541145.1:p.Asn1929Ile
XM_011542844.3:c.4742A>T (ATM)	XP_011541146.1:p.Asn1581Ile
XM_011542845.2:c.4478A>T (ATM)	XP_011541147.1:p.Asn1493Ile
XM_017017789.2:c.5786A>T (ATM)	XP_016873278.1:p.Asn1929Ile
XM_017017790.2:c.5786A>T (ATM)	XP_016873279.1:p.Asn1929Ile
XM_017017791.1:c.5786A>T (ATM)	XP_016873280.1:p.Asn1929Ile
XR_002957150.1:n.6386A>T (ATM)
NM_001330368.2:c.641-1112T>A (C11orf65)	NP_001317297.1:n.641-1112T>A
NM_001351110.2:c.*39-1112T>A (C11orf65)	NP_001338039.1:n.*39-1112T>A
NM_001351834.2:c.5786A>T (ATM)	NP_001338763.1:p.Asn1929Ile
NM_000051.4:c.5786A>T (ATM) MANE Select	NP_000042.3:p.Asn1929Ile