Canonical Allele Identifier: CA382547870

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148107
• ClinVar RCV Id: RCV004440009
• MyVariant Identifiers: chr11:g.108178656A>T (hg19) ; chr11:g.108307929A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307929A>T , CM000673.2:g.108307929A>T	GRCh38
NC_000011.9:g.108178656A>T , CM000673.1:g.108178656A>T	GRCh37
NC_000011.8:g.107683866A>T	NCBI36
NG_009830.1:g.90098A>T , LRG_135:g.90098A>T
NG_054724.1:g.166904T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5707A>T	ENSP00000388058.2:p.Lys1903Ter
ENST00000713593.1:c.*5178A>T	ENSP00000518889.1:n.*5178A>T
ENST00000278616.9:c.5707A>T	ENSP00000278616.4:p.Lys1903Ter
ENST00000525056.2:n.126A>T
ENST00000682286.1:n.464A>T
ENST00000682302.1:n.125A>T
ENST00000683174.1:n.7191A>T
ENST00000683524.1:n.931A>T
ENST00000684152.1:n.1421A>T
ENST00000527805.6:c.*771A>T	ENSP00000435747.2:n.*771A>T
ENST00000675595.1:c.*771A>T	ENSP00000502563.1:n.*771A>T
ENST00000675843.1:c.5707A>T MANE Select	ENSP00000501606.1:p.Lys1903Ter
ENST00000278616.8:c.5707A>T	ENSP00000278616.4:p.Lys1903Ter
ENST00000452508.6:c.5707A>T	ENSP00000388058.2:p.Lys1903Ter
ENST00000524792.5:n.1922A>T
ENST00000529588.5:c.187-2231A>T
ENST00000533690.5:n.1111A>T
NM_000051.3:c.5707A>T , LRG_135t1:c.5707A>T	NP_000042.3:p.Lys1903Ter
XM_005271561.3:c.5707A>T	XP_005271618.2:p.Lys1903Ter
XM_005271562.3:c.5707A>T	XP_005271619.2:p.Lys1903Ter
XM_006718843.2:c.5707A>T	XP_006718906.1:p.Lys1903Ter
XM_006718845.1:c.1663A>T	XP_006718908.1:p.Lys555Ter
XM_011542840.1:c.5707A>T	XP_011541142.1:p.Lys1903Ter
XM_011542841.1:c.5707A>T	XP_011541143.1:p.Lys1903Ter
XM_011542842.1:c.5542A>T	XP_011541144.1:p.Lys1848Ter
XM_011542843.1:c.5707A>T	XP_011541145.1:p.Lys1903Ter
XM_011542844.1:c.4663A>T	XP_011541146.1:p.Lys1555Ter
XM_011542845.1:c.4399A>T	XP_011541147.1:p.Lys1467Ter
XM_011542847.1:c.778A>T	XP_011541149.1:p.Lys260Ter
NM_001351834.1:c.5707A>T	NP_001338763.1:p.Lys1903Ter
XM_005271562.5:c.5707A>T	XP_005271619.2:p.Lys1903Ter
XM_006718843.4:c.5707A>T	XP_006718906.1:p.Lys1903Ter
XM_006718845.2:c.1663A>T	XP_006718908.1:p.Lys555Ter
XM_011542840.3:c.5707A>T	XP_011541142.1:p.Lys1903Ter
XM_011542842.3:c.5542A>T	XP_011541144.1:p.Lys1848Ter
XM_011542843.2:c.5707A>T	XP_011541145.1:p.Lys1903Ter
XM_011542844.3:c.4663A>T	XP_011541146.1:p.Lys1555Ter
XM_011542845.2:c.4399A>T	XP_011541147.1:p.Lys1467Ter
XM_017017789.2:c.5707A>T	XP_016873278.1:p.Lys1903Ter
XM_017017790.2:c.5707A>T	XP_016873279.1:p.Lys1903Ter
XM_017017791.1:c.5707A>T	XP_016873280.1:p.Lys1903Ter
XR_002957150.1:n.6307A>T
NM_001351834.2:c.5707A>T	NP_001338763.1:p.Lys1903Ter
NM_000051.4:c.5707A>T MANE Select	NP_000042.3:p.Lys1903Ter