Canonical Allele Identifier: CA16619094

Gene: ATM

Linked Data

• ClinVar Variation Id: 422792
• ClinVar RCV Id: RCV000479184 ; RCV000535900 ; RCV000775870
• dbSNP Id: rs1064796002
• gnomAD v4: 11-108227821-A-G
• MyVariant Identifiers: chr11:g.108098548A>G (hg19) ; chr11:g.108227821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108227821A>G , CM000673.2:g.108227821A>G	GRCh38
NC_000011.9:g.108098548A>G , CM000673.1:g.108098548A>G	GRCh37
NC_000011.8:g.107603758A>G	NCBI36
NG_009830.1:g.9990A>G , LRG_135:g.9990A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.118A>G	ENSP00000388058.2:p.Ile40Val
ENST00000683914.2:c.118A>G	ENSP00000507649.1:p.Ile40Val
ENST00000713593.1:c.118A>G	ENSP00000518889.1:p.Ile40Val
ENST00000278616.9:c.118A>G	ENSP00000278616.4:p.Ile40Val
ENST00000682147.1:n.248A>G
ENST00000682430.1:n.217A>G
ENST00000682465.1:c.118A>G	ENSP00000508284.1:p.Ile40Val
ENST00000682516.1:n.252A>G
ENST00000682956.1:n.252A>G
ENST00000683150.1:c.118A>G	ENSP00000507125.1:p.Ile40Val
ENST00000683174.1:n.268A>G
ENST00000683468.1:c.118A>G	ENSP00000508178.1:p.Ile40Val
ENST00000683488.1:n.4778A>G
ENST00000683914.1:c.118A>G	ENSP00000507649.1:p.Ile40Val
ENST00000684029.1:c.118A>G	ENSP00000508010.1:p.Ile40Val
ENST00000684037.1:c.118A>G	ENSP00000508245.1:p.Ile40Val
ENST00000684061.1:n.252A>G
ENST00000684179.1:n.252A>G
ENST00000527805.6:c.118A>G	ENSP00000435747.2:p.Ile40Val
ENST00000638443.1:c.118A>G	ENSP00000491957.1:p.Ile40Val
ENST00000639240.1:c.118A>G	ENSP00000491585.1:p.Ile40Val
ENST00000639953.1:c.118A>G	ENSP00000492487.1:p.Ile40Val
ENST00000640388.1:c.118A>G	ENSP00000492354.1:p.Ile40Val
ENST00000675595.1:c.118A>G	ENSP00000502563.1:p.Ile40Val
ENST00000675843.1:c.118A>G MANE Select	ENSP00000501606.1:p.Ile40Val
ENST00000278616.8:c.118A>G	ENSP00000278616.4:p.Ile40Val
ENST00000452508.6:c.118A>G	ENSP00000388058.2:p.Ile40Val
ENST00000526567.5:c.118A>G	ENSP00000480205.1:p.Ile40Val
ENST00000527805.5:c.118A>G	ENSP00000435747.1:p.Ile40Val
ENST00000527891.5:c.118A>G	ENSP00000433955.1:p.Ile40Val
ENST00000530958.5:c.118A>G	ENSP00000483338.1:p.Ile40Val
ENST00000532931.5:c.118A>G	ENSP00000432318.1:p.Ile40Val
ENST00000601453.2:c.118A>G	ENSP00000469471.1:p.Ile40Val
NM_000051.3:c.118A>G , LRG_135t1:c.118A>G	NP_000042.3:p.Ile40Val
XM_005271561.3:c.118A>G	XP_005271618.2:p.Ile40Val
XM_005271562.3:c.118A>G	XP_005271619.2:p.Ile40Val
XM_006718843.2:c.118A>G	XP_006718906.1:p.Ile40Val
XM_011542840.1:c.118A>G	XP_011541142.1:p.Ile40Val
XM_011542841.1:c.118A>G	XP_011541143.1:p.Ile40Val
XM_011542842.1:c.118A>G	XP_011541144.1:p.Ile40Val
XM_011542843.1:c.118A>G	XP_011541145.1:p.Ile40Val
XM_011542846.1:c.118A>G	XP_011541148.1:p.Ile40Val
NM_001351834.1:c.118A>G	NP_001338763.1:p.Ile40Val
NM_001351835.1:c.118A>G	NP_001338764.1:p.Ile40Val
NM_001351836.1:c.118A>G	NP_001338765.1:p.Ile40Val
XM_005271562.5:c.118A>G	XP_005271619.2:p.Ile40Val
XM_006718843.4:c.118A>G	XP_006718906.1:p.Ile40Val
XM_011542840.3:c.118A>G	XP_011541142.1:p.Ile40Val
XM_011542842.3:c.118A>G	XP_011541144.1:p.Ile40Val
XM_011542843.2:c.118A>G	XP_011541145.1:p.Ile40Val
XM_011542844.3:c.-905A>G	XP_011541146.1:n.-905A>G
XM_017017789.2:c.118A>G	XP_016873278.1:p.Ile40Val
XM_017017790.2:c.118A>G	XP_016873279.1:p.Ile40Val
XM_017017791.1:c.118A>G	XP_016873280.1:p.Ile40Val
XM_017017792.2:c.118A>G	XP_016873281.1:p.Ile40Val
XR_002957150.1:n.851A>G
NM_001351834.2:c.118A>G	NP_001338763.1:p.Ile40Val
NM_000051.4:c.118A>G MANE Select	NP_000042.3:p.Ile40Val
NM_001351835.2:c.118A>G	NP_001338764.1:p.Ile40Val
NM_001351836.2:c.118A>G	NP_001338765.1:p.Ile40Val