Canonical Allele Identifier: CA353500

Gene: ATM

Linked Data

• ClinVar Variation Id: 224517
• ClinVar RCV Id: RCV000210108 ; RCV000255796 ; RCV001171384 ; RCV002478758
• dbSNP Id: rs869312754
• MyVariant Identifiers: chr11:g.108098321G>T (hg19) ; chr11:g.108227594G>T (hg38)
• PubMed: PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108227594G>T , CM000673.2:g.108227594G>T	GRCh38
NC_000011.9:g.108098321G>T , CM000673.1:g.108098321G>T	GRCh37
NC_000011.8:g.107603531G>T	NCBI36
NG_009830.1:g.9763G>T , LRG_135:g.9763G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-30-1G>T	ENSP00000388058.2:n.-30-1G>T
ENST00000683914.2:c.-30-1G>T	ENSP00000507649.1:n.-30-1G>T
ENST00000713593.1:c.-30-1G>T	ENSP00000518889.1:n.-30-1G>T
ENST00000278616.9:c.-30-1G>T	ENSP00000278616.4:n.-30-1G>T
ENST00000682147.1:n.105-1G>T
ENST00000682430.1:n.70-1G>T
ENST00000682465.1:c.-30-1G>T	ENSP00000508284.1:n.-30-1G>T
ENST00000682516.1:n.105-1G>T
ENST00000682956.1:n.105-1G>T
ENST00000683150.1:c.-30-1G>T	ENSP00000507125.1:n.-30-1G>T
ENST00000683174.1:n.121-1G>T
ENST00000683468.1:c.-31G>T	ENSP00000508178.1:n.-31G>T
ENST00000683488.1:n.4551G>T
ENST00000683914.1:c.-30-1G>T	ENSP00000507649.1:n.-30-1G>T
ENST00000684029.1:c.-30-1G>T	ENSP00000508010.1:n.-30-1G>T
ENST00000684037.1:c.-30-1G>T	ENSP00000508245.1:n.-30-1G>T
ENST00000684061.1:n.105-1G>T
ENST00000684179.1:n.105-1G>T
ENST00000527805.6:c.-30-1G>T	ENSP00000435747.2:n.-30-1G>T
ENST00000638443.1:c.-30-1G>T	ENSP00000491957.1:n.-30-1G>T
ENST00000639240.1:c.-26-5G>T	ENSP00000491585.1:n.-26-5G>T
ENST00000639953.1:c.-30-1G>T	ENSP00000492487.1:n.-30-1G>T
ENST00000640388.1:c.-30-1G>T	ENSP00000492354.1:n.-30-1G>T
ENST00000675595.1:c.-30-1G>T	ENSP00000502563.1:n.-30-1G>T
ENST00000675843.1:c.-30-1G>T MANE Select	ENSP00000501606.1:n.-30-1G>T
ENST00000278616.8:c.-30-1G>T	ENSP00000278616.4:n.-30-1G>T
ENST00000452508.6:c.-30-1G>T	ENSP00000388058.2:n.-30-1G>T
ENST00000526567.5:c.-30-1G>T	ENSP00000480205.1:n.-30-1G>T
ENST00000527805.5:c.-30-1G>T	ENSP00000435747.1:n.-30-1G>T
ENST00000527891.5:c.-30-1G>T	ENSP00000433955.1:n.-30-1G>T
ENST00000530958.5:c.-31G>T	ENSP00000483338.1:n.-31G>T
ENST00000532931.5:c.-30-1G>T	ENSP00000432318.1:n.-30-1G>T
ENST00000601453.2:c.-30-1G>T	ENSP00000469471.1:n.-30-1G>T
NM_000051.3:c.-30-1G>T , LRG_135t1:c.-30-1G>T	NP_000042.3:n.-30-1G>T
XM_005271561.3:c.-30-1G>T	XP_005271618.2:n.-30-1G>T
XM_005271562.3:c.-30-1G>T	XP_005271619.2:n.-30-1G>T
XM_006718843.2:c.-30-1G>T	XP_006718906.1:n.-30-1G>T
XM_011542840.1:c.-30-1G>T	XP_011541142.1:n.-30-1G>T
XM_011542841.1:c.-30-1G>T	XP_011541143.1:n.-30-1G>T
XM_011542842.1:c.-30-1G>T	XP_011541144.1:n.-30-1G>T
XM_011542843.1:c.-30-1G>T	XP_011541145.1:n.-30-1G>T
XM_011542846.1:c.-30-1G>T	XP_011541148.1:n.-30-1G>T
NM_001351834.1:c.-30-1G>T	NP_001338763.1:n.-30-1G>T
NM_001351835.1:c.-30-1G>T	NP_001338764.1:n.-30-1G>T
NM_001351836.1:c.-30-1G>T	NP_001338765.1:n.-30-1G>T
XM_005271562.5:c.-30-1G>T	XP_005271619.2:n.-30-1G>T
XM_006718843.4:c.-30-1G>T	XP_006718906.1:n.-30-1G>T
XM_011542840.3:c.-30-1G>T	XP_011541142.1:n.-30-1G>T
XM_011542842.3:c.-30-1G>T	XP_011541144.1:n.-30-1G>T
XM_011542843.2:c.-30-1G>T	XP_011541145.1:n.-30-1G>T
XM_011542844.3:c.-1052-1G>T	XP_011541146.1:n.-1052-1G>T
XM_017017789.2:c.-30-1G>T	XP_016873278.1:n.-30-1G>T
XM_017017790.2:c.-30-1G>T	XP_016873279.1:n.-30-1G>T
XM_017017791.1:c.-30-1G>T	XP_016873280.1:n.-30-1G>T
XM_017017792.2:c.-30-1G>T	XP_016873281.1:n.-30-1G>T
XR_002957150.1:n.704-1G>T
NM_001351834.2:c.-30-1G>T	NP_001338763.1:n.-30-1G>T
NM_000051.4:c.-30-1G>T MANE Select	NP_000042.3:n.-30-1G>T
NM_001351835.2:c.-30-1G>T	NP_001338764.1:n.-30-1G>T
NM_001351836.2:c.-30-1G>T	NP_001338765.1:n.-30-1G>T