Canonical Allele Identifier: CA382548302

Gene: ATM C11orf65

Linked Data

• MyVariant Identifiers: chr11:g.108180903A>T (hg19) ; chr11:g.108310176A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310176A>T , CM000673.2:g.108310176A>T	GRCh38
NC_000011.9:g.108180903A>T , CM000673.1:g.108180903A>T	GRCh37
NC_000011.8:g.107686113A>T	NCBI36
NG_009830.1:g.92345A>T , LRG_135:g.92345A>T
NG_054724.1:g.164657T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5779A>T (ATM)	ENSP00000388058.2:p.Ile1927Phe
ENST00000713593.1:c.*5250A>T (ATM)	ENSP00000518889.1:n.*5250A>T
ENST00000278616.9:c.5779A>T (ATM)	ENSP00000278616.4:p.Ile1927Phe
ENST00000525056.2:n.198A>T (ATM)
ENST00000682286.1:n.536A>T (ATM)
ENST00000682302.1:n.197A>T (ATM)
ENST00000683174.1:n.7263A>T (ATM)
ENST00000683524.1:n.1003A>T (ATM)
ENST00000684152.1:n.1493A>T (ATM)
ENST00000527805.6:c.*843A>T (ATM)	ENSP00000435747.2:n.*843A>T
ENST00000675595.1:c.*843A>T (ATM)	ENSP00000502563.1:n.*843A>T
ENST00000675843.1:c.5779A>T (ATM) MANE Select	ENSP00000501606.1:p.Ile1927Phe
ENST00000278616.8:c.5779A>T (ATM)	ENSP00000278616.4:p.Ile1927Phe
ENST00000452508.6:c.5779A>T (ATM)	ENSP00000388058.2:p.Ile1927Phe
ENST00000524792.5:n.1994A>T (ATM)
ENST00000525729.5:c.641-1105T>A (C11orf65)	ENSP00000433395.1:n.641-1105T>A
ENST00000529588.5:c.203A>T (ATM)
ENST00000532765.1:n.96A>T (ATM)
ENST00000533690.5:n.1183A>T (ATM)
NM_000051.3:c.5779A>T , LRG_135t1:c.5779A>T (ATM)	NP_000042.3:p.Ile1927Phe
XM_005271561.3:c.5779A>T (ATM)	XP_005271618.2:p.Ile1927Phe
XM_005271562.3:c.5779A>T (ATM)	XP_005271619.2:p.Ile1927Phe
XM_006718843.2:c.5779A>T (ATM)	XP_006718906.1:p.Ile1927Phe
XM_006718845.1:c.1735A>T (ATM)	XP_006718908.1:p.Ile579Phe
XM_011542840.1:c.5779A>T (ATM)	XP_011541142.1:p.Ile1927Phe
XM_011542841.1:c.5779A>T (ATM)	XP_011541143.1:p.Ile1927Phe
XM_011542842.1:c.5614A>T (ATM)	XP_011541144.1:p.Ile1872Phe
XM_011542843.1:c.5779A>T (ATM)	XP_011541145.1:p.Ile1927Phe
XM_011542844.1:c.4735A>T (ATM)	XP_011541146.1:p.Ile1579Phe
XM_011542845.1:c.4471A>T (ATM)	XP_011541147.1:p.Ile1491Phe
XM_011542847.1:c.850A>T (ATM)	XP_011541149.1:p.Ile284Phe
NM_001330368.1:c.641-1105T>A (C11orf65)	NP_001317297.1:n.641-1105T>A
NM_001351110.1:c.*39-1105T>A (C11orf65)	NP_001338039.1:n.*39-1105T>A
NM_001351834.1:c.5779A>T (ATM)	NP_001338763.1:p.Ile1927Phe
XM_005271562.5:c.5779A>T (ATM)	XP_005271619.2:p.Ile1927Phe
XM_006718843.4:c.5779A>T (ATM)	XP_006718906.1:p.Ile1927Phe
XM_006718845.2:c.1735A>T (ATM)	XP_006718908.1:p.Ile579Phe
XM_011542840.3:c.5779A>T (ATM)	XP_011541142.1:p.Ile1927Phe
XM_011542842.3:c.5614A>T (ATM)	XP_011541144.1:p.Ile1872Phe
XM_011542843.2:c.5779A>T (ATM)	XP_011541145.1:p.Ile1927Phe
XM_011542844.3:c.4735A>T (ATM)	XP_011541146.1:p.Ile1579Phe
XM_011542845.2:c.4471A>T (ATM)	XP_011541147.1:p.Ile1491Phe
XM_017017789.2:c.5779A>T (ATM)	XP_016873278.1:p.Ile1927Phe
XM_017017790.2:c.5779A>T (ATM)	XP_016873279.1:p.Ile1927Phe
XM_017017791.1:c.5779A>T (ATM)	XP_016873280.1:p.Ile1927Phe
XR_002957150.1:n.6379A>T (ATM)
NM_001330368.2:c.641-1105T>A (C11orf65)	NP_001317297.1:n.641-1105T>A
NM_001351110.2:c.*39-1105T>A (C11orf65)	NP_001338039.1:n.*39-1105T>A
NM_001351834.2:c.5779A>T (ATM)	NP_001338763.1:p.Ile1927Phe
NM_000051.4:c.5779A>T (ATM) MANE Select	NP_000042.3:p.Ile1927Phe