Canonical Allele Identifier: CA336702

Gene: ATM

Linked Data

• ClinVar Variation Id: 216210
• ClinVar RCV Id: RCV000196770 ; RCV003165465
• dbSNP Id: rs863224569
• gnomAD v4: 11-108287623-T-G
• MyVariant Identifiers: chr11:g.108158350T>G (hg19) ; chr11:g.108287623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287623T>G , CM000673.2:g.108287623T>G	GRCh38
NC_000011.9:g.108158350T>G , CM000673.1:g.108158350T>G	GRCh37
NC_000011.8:g.107663560T>G	NCBI36
NG_009830.1:g.69792T>G , LRG_135:g.69792T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4017T>G	ENSP00000388058.2:p.Asn1339Lys
ENST00000713593.1:c.*3488T>G	ENSP00000518889.1:n.*3488T>G
ENST00000278616.9:c.4017T>G	ENSP00000278616.4:p.Asn1339Lys
ENST00000533733.6:n.1280T>G
ENST00000683174.1:n.4167T>G
ENST00000527805.6:c.4017T>G	ENSP00000435747.2:p.Asn1339Lys
ENST00000675595.1:c.3852T>G	ENSP00000502563.1:p.Asn1284Lys
ENST00000675843.1:c.4017T>G MANE Select	ENSP00000501606.1:p.Asn1339Lys
ENST00000278616.8:c.4017T>G	ENSP00000278616.4:p.Asn1339Lys
ENST00000452508.6:c.4017T>G	ENSP00000388058.2:p.Asn1339Lys
ENST00000524792.5:n.232T>G
ENST00000527805.5:c.4017T>G	ENSP00000435747.1:p.Asn1339Lys
ENST00000531525.2:c.24T>G	ENSP00000434327.2:p.Asn8Lys
ENST00000533733.5:n.446T>G
NM_000051.3:c.4017T>G , LRG_135t1:c.4017T>G	NP_000042.3:p.Asn1339Lys
XM_005271561.3:c.4017T>G	XP_005271618.2:p.Asn1339Lys
XM_005271562.3:c.4017T>G	XP_005271619.2:p.Asn1339Lys
XM_006718843.2:c.4017T>G	XP_006718906.1:p.Asn1339Lys
XM_006718845.1:c.-28T>G	XP_006718908.1:n.-28T>G
XM_011542840.1:c.4017T>G	XP_011541142.1:p.Asn1339Lys
XM_011542841.1:c.4017T>G	XP_011541143.1:p.Asn1339Lys
XM_011542842.1:c.3852T>G	XP_011541144.1:p.Asn1284Lys
XM_011542843.1:c.4017T>G	XP_011541145.1:p.Asn1339Lys
XM_011542844.1:c.2973T>G	XP_011541146.1:p.Asn991Lys
XM_011542845.1:c.2709T>G	XP_011541147.1:p.Asn903Lys
XM_011542846.1:c.4017T>G	XP_011541148.1:p.Asn1339Lys
NM_001351834.1:c.4017T>G	NP_001338763.1:p.Asn1339Lys
XM_005271562.5:c.4017T>G	XP_005271619.2:p.Asn1339Lys
XM_006718843.4:c.4017T>G	XP_006718906.1:p.Asn1339Lys
XM_006718845.2:c.-28T>G	XP_006718908.1:n.-28T>G
XM_011542840.3:c.4017T>G	XP_011541142.1:p.Asn1339Lys
XM_011542842.3:c.3852T>G	XP_011541144.1:p.Asn1284Lys
XM_011542843.2:c.4017T>G	XP_011541145.1:p.Asn1339Lys
XM_011542844.3:c.2973T>G	XP_011541146.1:p.Asn991Lys
XM_011542845.2:c.2709T>G	XP_011541147.1:p.Asn903Lys
XM_017017789.2:c.4017T>G	XP_016873278.1:p.Asn1339Lys
XM_017017790.2:c.4017T>G	XP_016873279.1:p.Asn1339Lys
XM_017017791.1:c.4017T>G	XP_016873280.1:p.Asn1339Lys
XM_017017792.2:c.4017T>G	XP_016873281.1:p.Asn1339Lys
XR_002957150.1:n.4750T>G
NM_001351834.2:c.4017T>G	NP_001338763.1:p.Asn1339Lys
NM_000051.4:c.4017T>G MANE Select	NP_000042.3:p.Asn1339Lys