Canonical Allele Identifier: CA382548327

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 926004
• ClinVar RCV Id: RCV001188287
• dbSNP Id: rs2084024488
• MyVariant Identifiers: chr11:g.108180913A>G (hg19) ; chr11:g.108310186A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310186A>G , CM000673.2:g.108310186A>G	GRCh38
NC_000011.9:g.108180913A>G , CM000673.1:g.108180913A>G	GRCh37
NC_000011.8:g.107686123A>G	NCBI36
NG_009830.1:g.92355A>G , LRG_135:g.92355A>G
NG_054724.1:g.164647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5789A>G (ATM)	ENSP00000388058.2:p.Asp1930Gly
ENST00000713593.1:c.*5260A>G (ATM)	ENSP00000518889.1:n.*5260A>G
ENST00000278616.9:c.5789A>G (ATM)	ENSP00000278616.4:p.Asp1930Gly
ENST00000525056.2:n.208A>G (ATM)
ENST00000682286.1:n.546A>G (ATM)
ENST00000682302.1:n.207A>G (ATM)
ENST00000683174.1:n.7273A>G (ATM)
ENST00000683524.1:n.1013A>G (ATM)
ENST00000684152.1:n.1503A>G (ATM)
ENST00000527805.6:c.*853A>G (ATM)	ENSP00000435747.2:n.*853A>G
ENST00000675595.1:c.*853A>G (ATM)	ENSP00000502563.1:n.*853A>G
ENST00000675843.1:c.5789A>G (ATM) MANE Select	ENSP00000501606.1:p.Asp1930Gly
ENST00000278616.8:c.5789A>G (ATM)	ENSP00000278616.4:p.Asp1930Gly
ENST00000452508.6:c.5789A>G (ATM)	ENSP00000388058.2:p.Asp1930Gly
ENST00000524792.5:n.2004A>G (ATM)
ENST00000525729.5:c.641-1115T>C (C11orf65)	ENSP00000433395.1:n.641-1115T>C
ENST00000529588.5:c.213A>G (ATM)
ENST00000532765.1:n.106A>G (ATM)
ENST00000533690.5:n.1193A>G (ATM)
NM_000051.3:c.5789A>G , LRG_135t1:c.5789A>G (ATM)	NP_000042.3:p.Asp1930Gly
XM_005271561.3:c.5789A>G (ATM)	XP_005271618.2:p.Asp1930Gly
XM_005271562.3:c.5789A>G (ATM)	XP_005271619.2:p.Asp1930Gly
XM_006718843.2:c.5789A>G (ATM)	XP_006718906.1:p.Asp1930Gly
XM_006718845.1:c.1745A>G (ATM)	XP_006718908.1:p.Asp582Gly
XM_011542840.1:c.5789A>G (ATM)	XP_011541142.1:p.Asp1930Gly
XM_011542841.1:c.5789A>G (ATM)	XP_011541143.1:p.Asp1930Gly
XM_011542842.1:c.5624A>G (ATM)	XP_011541144.1:p.Asp1875Gly
XM_011542843.1:c.5789A>G (ATM)	XP_011541145.1:p.Asp1930Gly
XM_011542844.1:c.4745A>G (ATM)	XP_011541146.1:p.Asp1582Gly
XM_011542845.1:c.4481A>G (ATM)	XP_011541147.1:p.Asp1494Gly
XM_011542847.1:c.860A>G (ATM)	XP_011541149.1:p.Asp287Gly
NM_001330368.1:c.641-1115T>C (C11orf65)	NP_001317297.1:n.641-1115T>C
NM_001351110.1:c.*39-1115T>C (C11orf65)	NP_001338039.1:n.*39-1115T>C
NM_001351834.1:c.5789A>G (ATM)	NP_001338763.1:p.Asp1930Gly
XM_005271562.5:c.5789A>G (ATM)	XP_005271619.2:p.Asp1930Gly
XM_006718843.4:c.5789A>G (ATM)	XP_006718906.1:p.Asp1930Gly
XM_006718845.2:c.1745A>G (ATM)	XP_006718908.1:p.Asp582Gly
XM_011542840.3:c.5789A>G (ATM)	XP_011541142.1:p.Asp1930Gly
XM_011542842.3:c.5624A>G (ATM)	XP_011541144.1:p.Asp1875Gly
XM_011542843.2:c.5789A>G (ATM)	XP_011541145.1:p.Asp1930Gly
XM_011542844.3:c.4745A>G (ATM)	XP_011541146.1:p.Asp1582Gly
XM_011542845.2:c.4481A>G (ATM)	XP_011541147.1:p.Asp1494Gly
XM_017017789.2:c.5789A>G (ATM)	XP_016873278.1:p.Asp1930Gly
XM_017017790.2:c.5789A>G (ATM)	XP_016873279.1:p.Asp1930Gly
XM_017017791.1:c.5789A>G (ATM)	XP_016873280.1:p.Asp1930Gly
XR_002957150.1:n.6389A>G (ATM)
NM_001330368.2:c.641-1115T>C (C11orf65)	NP_001317297.1:n.641-1115T>C
NM_001351110.2:c.*39-1115T>C (C11orf65)	NP_001338039.1:n.*39-1115T>C
NM_001351834.2:c.5789A>G (ATM)	NP_001338763.1:p.Asp1930Gly
NM_000051.4:c.5789A>G (ATM) MANE Select	NP_000042.3:p.Asp1930Gly