Canonical Allele Identifier: CA382533389

Gene: ATM

Linked Data

• ClinVar Variation Id: 453523
• ClinVar RCV Id: RCV000557405 ; RCV004023643
• dbSNP Id: rs1329359780
• gnomAD v2: 11-108163402-T-G
• MyVariant Identifiers: chr11:g.108163402T>G (hg19) ; chr11:g.108292675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108292675T>G , CM000673.2:g.108292675T>G	GRCh38
NC_000011.9:g.108163402T>G , CM000673.1:g.108163402T>G	GRCh37
NC_000011.8:g.107668612T>G	NCBI36
NG_009830.1:g.74844T>G , LRG_135:g.74844T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4493T>G	ENSP00000388058.2:p.Leu1498Ter
ENST00000713593.1:c.*3964T>G	ENSP00000518889.1:n.*3964T>G
ENST00000278616.9:c.4493T>G	ENSP00000278616.4:p.Leu1498Ter
ENST00000683174.1:n.4643T>G
ENST00000527805.6:c.4493T>G	ENSP00000435747.2:p.Leu1498Ter
ENST00000675595.1:c.4328T>G	ENSP00000502563.1:p.Leu1443Ter
ENST00000675843.1:c.4493T>G MANE Select	ENSP00000501606.1:p.Leu1498Ter
ENST00000278616.8:c.4493T>G	ENSP00000278616.4:p.Leu1498Ter
ENST00000452508.6:c.4493T>G	ENSP00000388058.2:p.Leu1498Ter
ENST00000524792.5:n.708T>G
ENST00000531525.2:c.444-2252T>G	ENSP00000434327.2:n.444-2252T>G
NM_000051.3:c.4493T>G , LRG_135t1:c.4493T>G	NP_000042.3:p.Leu1498Ter
XM_005271561.3:c.4493T>G	XP_005271618.2:p.Leu1498Ter
XM_005271562.3:c.4493T>G	XP_005271619.2:p.Leu1498Ter
XM_006718843.2:c.4493T>G	XP_006718906.1:p.Leu1498Ter
XM_006718845.1:c.449T>G	XP_006718908.1:p.Leu150Ter
XM_011542840.1:c.4493T>G	XP_011541142.1:p.Leu1498Ter
XM_011542841.1:c.4493T>G	XP_011541143.1:p.Leu1498Ter
XM_011542842.1:c.4328T>G	XP_011541144.1:p.Leu1443Ter
XM_011542843.1:c.4493T>G	XP_011541145.1:p.Leu1498Ter
XM_011542844.1:c.3449T>G	XP_011541146.1:p.Leu1150Ter
XM_011542845.1:c.3185T>G	XP_011541147.1:p.Leu1062Ter
XM_011542846.1:c.4493T>G	XP_011541148.1:p.Leu1498Ter
NM_001351834.1:c.4493T>G	NP_001338763.1:p.Leu1498Ter
XM_005271562.5:c.4493T>G	XP_005271619.2:p.Leu1498Ter
XM_006718843.4:c.4493T>G	XP_006718906.1:p.Leu1498Ter
XM_006718845.2:c.449T>G	XP_006718908.1:p.Leu150Ter
XM_011542840.3:c.4493T>G	XP_011541142.1:p.Leu1498Ter
XM_011542842.3:c.4328T>G	XP_011541144.1:p.Leu1443Ter
XM_011542843.2:c.4493T>G	XP_011541145.1:p.Leu1498Ter
XM_011542844.3:c.3449T>G	XP_011541146.1:p.Leu1150Ter
XM_011542845.2:c.3185T>G	XP_011541147.1:p.Leu1062Ter
XM_017017789.2:c.4493T>G	XP_016873278.1:p.Leu1498Ter
XM_017017790.2:c.4493T>G	XP_016873279.1:p.Leu1498Ter
XM_017017791.1:c.4493T>G	XP_016873280.1:p.Leu1498Ter
XM_017017792.2:c.4493T>G	XP_016873281.1:p.Leu1498Ter
XR_002957150.1:n.5226T>G
NM_001351834.2:c.4493T>G	NP_001338763.1:p.Leu1498Ter
NM_000051.4:c.4493T>G MANE Select	NP_000042.3:p.Leu1498Ter