Canonical Allele Identifier: CA382547946

Gene: ATM

Linked Data

• ClinVar Variation Id: 1056507
• ClinVar RCV Id: RCV001365352
• dbSNP Id: rs2135977089
• MyVariant Identifiers: chr11:g.108178672C>G (hg19) ; chr11:g.108307945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307945C>G , CM000673.2:g.108307945C>G	GRCh38
NC_000011.9:g.108178672C>G , CM000673.1:g.108178672C>G	GRCh37
NC_000011.8:g.107683882C>G	NCBI36
NG_009830.1:g.90114C>G , LRG_135:g.90114C>G
NG_054724.1:g.166888G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5723C>G	ENSP00000388058.2:p.Thr1908Arg
ENST00000713593.1:c.*5194C>G	ENSP00000518889.1:n.*5194C>G
ENST00000278616.9:c.5723C>G	ENSP00000278616.4:p.Thr1908Arg
ENST00000525056.2:n.142C>G
ENST00000682286.1:n.480C>G
ENST00000682302.1:n.141C>G
ENST00000683174.1:n.7207C>G
ENST00000683524.1:n.947C>G
ENST00000684152.1:n.1437C>G
ENST00000527805.6:c.*787C>G	ENSP00000435747.2:n.*787C>G
ENST00000675595.1:c.*787C>G	ENSP00000502563.1:n.*787C>G
ENST00000675843.1:c.5723C>G MANE Select	ENSP00000501606.1:p.Thr1908Arg
ENST00000278616.8:c.5723C>G	ENSP00000278616.4:p.Thr1908Arg
ENST00000452508.6:c.5723C>G	ENSP00000388058.2:p.Thr1908Arg
ENST00000524792.5:n.1938C>G
ENST00000529588.5:c.187-2215C>G
ENST00000533690.5:n.1127C>G
NM_000051.3:c.5723C>G , LRG_135t1:c.5723C>G	NP_000042.3:p.Thr1908Arg
XM_005271561.3:c.5723C>G	XP_005271618.2:p.Thr1908Arg
XM_005271562.3:c.5723C>G	XP_005271619.2:p.Thr1908Arg
XM_006718843.2:c.5723C>G	XP_006718906.1:p.Thr1908Arg
XM_006718845.1:c.1679C>G	XP_006718908.1:p.Thr560Arg
XM_011542840.1:c.5723C>G	XP_011541142.1:p.Thr1908Arg
XM_011542841.1:c.5723C>G	XP_011541143.1:p.Thr1908Arg
XM_011542842.1:c.5558C>G	XP_011541144.1:p.Thr1853Arg
XM_011542843.1:c.5723C>G	XP_011541145.1:p.Thr1908Arg
XM_011542844.1:c.4679C>G	XP_011541146.1:p.Thr1560Arg
XM_011542845.1:c.4415C>G	XP_011541147.1:p.Thr1472Arg
XM_011542847.1:c.794C>G	XP_011541149.1:p.Thr265Arg
NM_001351834.1:c.5723C>G	NP_001338763.1:p.Thr1908Arg
XM_005271562.5:c.5723C>G	XP_005271619.2:p.Thr1908Arg
XM_006718843.4:c.5723C>G	XP_006718906.1:p.Thr1908Arg
XM_006718845.2:c.1679C>G	XP_006718908.1:p.Thr560Arg
XM_011542840.3:c.5723C>G	XP_011541142.1:p.Thr1908Arg
XM_011542842.3:c.5558C>G	XP_011541144.1:p.Thr1853Arg
XM_011542843.2:c.5723C>G	XP_011541145.1:p.Thr1908Arg
XM_011542844.3:c.4679C>G	XP_011541146.1:p.Thr1560Arg
XM_011542845.2:c.4415C>G	XP_011541147.1:p.Thr1472Arg
XM_017017789.2:c.5723C>G	XP_016873278.1:p.Thr1908Arg
XM_017017790.2:c.5723C>G	XP_016873279.1:p.Thr1908Arg
XM_017017791.1:c.5723C>G	XP_016873280.1:p.Thr1908Arg
XR_002957150.1:n.6323C>G
NM_001351834.2:c.5723C>G	NP_001338763.1:p.Thr1908Arg
NM_000051.4:c.5723C>G MANE Select	NP_000042.3:p.Thr1908Arg