Canonical Allele Identifier: CA476673836

Gene: ATM

Linked Data

• ClinVar Variation Id: 524435
• ClinVar RCV Id: RCV000628230 ; RCV001022172
• dbSNP Id: rs1373073134
• gnomAD v4: 11-108289628-C-T
• MyVariant Identifiers: chr11:g.108160355C>T (hg19) ; chr11:g.108289628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289628C>T , CM000673.2:g.108289628C>T	GRCh38
NC_000011.9:g.108160355C>T , CM000673.1:g.108160355C>T	GRCh37
NC_000011.8:g.107665565C>T	NCBI36
NG_009830.1:g.71797C>T , LRG_135:g.71797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4263C>T	ENSP00000388058.2:p.Ala1421=
ENST00000713593.1:c.*3734C>T	ENSP00000518889.1:n.*3734C>T
ENST00000278616.9:c.4263C>T	ENSP00000278616.4:p.Ala1421=
ENST00000533733.6:n.1526C>T
ENST00000683174.1:n.4413C>T
ENST00000527805.6:c.4263C>T	ENSP00000435747.2:p.Ala1421=
ENST00000675595.1:c.4098C>T	ENSP00000502563.1:p.Ala1366=
ENST00000675843.1:c.4263C>T MANE Select	ENSP00000501606.1:p.Ala1421=
ENST00000278616.8:c.4263C>T	ENSP00000278616.4:p.Ala1421=
ENST00000452508.6:c.4263C>T	ENSP00000388058.2:p.Ala1421=
ENST00000524792.5:n.478C>T
ENST00000531525.2:c.270C>T	ENSP00000434327.2:p.Ala90=
ENST00000533733.5:n.692C>T
NM_000051.3:c.4263C>T , LRG_135t1:c.4263C>T	NP_000042.3:p.Ala1421=
XM_005271561.3:c.4263C>T	XP_005271618.2:p.Ala1421=
XM_005271562.3:c.4263C>T	XP_005271619.2:p.Ala1421=
XM_006718843.2:c.4263C>T	XP_006718906.1:p.Ala1421=
XM_006718845.1:c.219C>T	XP_006718908.1:p.Ala73=
XM_011542840.1:c.4263C>T	XP_011541142.1:p.Ala1421=
XM_011542841.1:c.4263C>T	XP_011541143.1:p.Ala1421=
XM_011542842.1:c.4098C>T	XP_011541144.1:p.Ala1366=
XM_011542843.1:c.4263C>T	XP_011541145.1:p.Ala1421=
XM_011542844.1:c.3219C>T	XP_011541146.1:p.Ala1073=
XM_011542845.1:c.2955C>T	XP_011541147.1:p.Ala985=
XM_011542846.1:c.4263C>T	XP_011541148.1:p.Ala1421=
NM_001351834.1:c.4263C>T	NP_001338763.1:p.Ala1421=
XM_005271562.5:c.4263C>T	XP_005271619.2:p.Ala1421=
XM_006718843.4:c.4263C>T	XP_006718906.1:p.Ala1421=
XM_006718845.2:c.219C>T	XP_006718908.1:p.Ala73=
XM_011542840.3:c.4263C>T	XP_011541142.1:p.Ala1421=
XM_011542842.3:c.4098C>T	XP_011541144.1:p.Ala1366=
XM_011542843.2:c.4263C>T	XP_011541145.1:p.Ala1421=
XM_011542844.3:c.3219C>T	XP_011541146.1:p.Ala1073=
XM_011542845.2:c.2955C>T	XP_011541147.1:p.Ala985=
XM_017017789.2:c.4263C>T	XP_016873278.1:p.Ala1421=
XM_017017790.2:c.4263C>T	XP_016873279.1:p.Ala1421=
XM_017017791.1:c.4263C>T	XP_016873280.1:p.Ala1421=
XM_017017792.2:c.4263C>T	XP_016873281.1:p.Ala1421=
XR_002957150.1:n.4996C>T
NM_001351834.2:c.4263C>T	NP_001338763.1:p.Ala1421=
NM_000051.4:c.4263C>T MANE Select	NP_000042.3:p.Ala1421=