Canonical Allele Identifier: CA382527707

Gene: ATM

Linked Data

• ClinVar Variation Id: 629637
• ClinVar RCV Id: RCV000774347 ; RCV001856086
• dbSNP Id: rs1565452575
• gnomAD v4: 11-108287636-G-T
• MyVariant Identifiers: chr11:g.108158363G>T (hg19) ; chr11:g.108287636G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287636G>T , CM000673.2:g.108287636G>T	GRCh38
NC_000011.9:g.108158363G>T , CM000673.1:g.108158363G>T	GRCh37
NC_000011.8:g.107663573G>T	NCBI36
NG_009830.1:g.69805G>T , LRG_135:g.69805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4030G>T	ENSP00000388058.2:p.Val1344Leu
ENST00000713593.1:c.*3501G>T	ENSP00000518889.1:n.*3501G>T
ENST00000278616.9:c.4030G>T	ENSP00000278616.4:p.Val1344Leu
ENST00000533733.6:n.1293G>T
ENST00000683174.1:n.4180G>T
ENST00000527805.6:c.4030G>T	ENSP00000435747.2:p.Val1344Leu
ENST00000675595.1:c.3865G>T	ENSP00000502563.1:p.Val1289Leu
ENST00000675843.1:c.4030G>T MANE Select	ENSP00000501606.1:p.Val1344Leu
ENST00000278616.8:c.4030G>T	ENSP00000278616.4:p.Val1344Leu
ENST00000452508.6:c.4030G>T	ENSP00000388058.2:p.Val1344Leu
ENST00000524792.5:n.245G>T
ENST00000527805.5:c.4030G>T	ENSP00000435747.1:p.Val1344Leu
ENST00000531525.2:c.37G>T	ENSP00000434327.2:p.Val13Leu
ENST00000533733.5:n.459G>T
NM_000051.3:c.4030G>T , LRG_135t1:c.4030G>T	NP_000042.3:p.Val1344Leu
XM_005271561.3:c.4030G>T	XP_005271618.2:p.Val1344Leu
XM_005271562.3:c.4030G>T	XP_005271619.2:p.Val1344Leu
XM_006718843.2:c.4030G>T	XP_006718906.1:p.Val1344Leu
XM_006718845.1:c.-15G>T	XP_006718908.1:n.-15G>T
XM_011542840.1:c.4030G>T	XP_011541142.1:p.Val1344Leu
XM_011542841.1:c.4030G>T	XP_011541143.1:p.Val1344Leu
XM_011542842.1:c.3865G>T	XP_011541144.1:p.Val1289Leu
XM_011542843.1:c.4030G>T	XP_011541145.1:p.Val1344Leu
XM_011542844.1:c.2986G>T	XP_011541146.1:p.Val996Leu
XM_011542845.1:c.2722G>T	XP_011541147.1:p.Val908Leu
XM_011542846.1:c.4030G>T	XP_011541148.1:p.Val1344Leu
NM_001351834.1:c.4030G>T	NP_001338763.1:p.Val1344Leu
XM_005271562.5:c.4030G>T	XP_005271619.2:p.Val1344Leu
XM_006718843.4:c.4030G>T	XP_006718906.1:p.Val1344Leu
XM_006718845.2:c.-15G>T	XP_006718908.1:n.-15G>T
XM_011542840.3:c.4030G>T	XP_011541142.1:p.Val1344Leu
XM_011542842.3:c.3865G>T	XP_011541144.1:p.Val1289Leu
XM_011542843.2:c.4030G>T	XP_011541145.1:p.Val1344Leu
XM_011542844.3:c.2986G>T	XP_011541146.1:p.Val996Leu
XM_011542845.2:c.2722G>T	XP_011541147.1:p.Val908Leu
XM_017017789.2:c.4030G>T	XP_016873278.1:p.Val1344Leu
XM_017017790.2:c.4030G>T	XP_016873279.1:p.Val1344Leu
XM_017017791.1:c.4030G>T	XP_016873280.1:p.Val1344Leu
XM_017017792.2:c.4030G>T	XP_016873281.1:p.Val1344Leu
XR_002957150.1:n.4763G>T
NM_001351834.2:c.4030G>T	NP_001338763.1:p.Val1344Leu
NM_000051.4:c.4030G>T MANE Select	NP_000042.3:p.Val1344Leu