Canonical Allele Identifier: CA16605809

Gene: ATM

Linked Data

• ClinVar Variation Id: 389279
• ClinVar RCV Id: RCV000434309 ; RCV002339077 ; RCV000817772
• dbSNP Id: rs1057523385
• gnomAD v4: 11-108299719-G-T
• MyVariant Identifiers: chr11:g.108170446G>T (hg19) ; chr11:g.108299719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299719G>T , CM000673.2:g.108299719G>T	GRCh38
NC_000011.9:g.108170446G>T , CM000673.1:g.108170446G>T	GRCh37
NC_000011.8:g.107675656G>T	NCBI36
NG_009830.1:g.81888G>T , LRG_135:g.81888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5011G>T	ENSP00000388058.2:p.Val1671Phe
ENST00000713593.1:c.*4482G>T	ENSP00000518889.1:n.*4482G>T
ENST00000278616.9:c.5011G>T	ENSP00000278616.4:p.Val1671Phe
ENST00000683174.1:n.6495G>T
ENST00000683524.1:n.235G>T
ENST00000684152.1:n.725G>T
ENST00000527805.6:c.*75G>T	ENSP00000435747.2:n.*75G>T
ENST00000675595.1:c.*75G>T	ENSP00000502563.1:n.*75G>T
ENST00000675843.1:c.5011G>T MANE Select	ENSP00000501606.1:p.Val1671Phe
ENST00000278616.8:c.5011G>T	ENSP00000278616.4:p.Val1671Phe
ENST00000452508.6:c.5011G>T	ENSP00000388058.2:p.Val1671Phe
ENST00000524792.5:n.1226G>T
ENST00000533690.5:n.415G>T
ENST00000534625.1:n.240G>T
NM_000051.3:c.5011G>T , LRG_135t1:c.5011G>T	NP_000042.3:p.Val1671Phe
XM_005271561.3:c.5011G>T	XP_005271618.2:p.Val1671Phe
XM_005271562.3:c.5011G>T	XP_005271619.2:p.Val1671Phe
XM_006718843.2:c.5011G>T	XP_006718906.1:p.Val1671Phe
XM_006718845.1:c.967G>T	XP_006718908.1:p.Val323Phe
XM_011542840.1:c.5011G>T	XP_011541142.1:p.Val1671Phe
XM_011542841.1:c.5011G>T	XP_011541143.1:p.Val1671Phe
XM_011542842.1:c.4846G>T	XP_011541144.1:p.Val1616Phe
XM_011542843.1:c.5011G>T	XP_011541145.1:p.Val1671Phe
XM_011542844.1:c.3967G>T	XP_011541146.1:p.Val1323Phe
XM_011542845.1:c.3703G>T	XP_011541147.1:p.Val1235Phe
XM_011542846.1:c.5011G>T	XP_011541148.1:p.Val1671Phe
XM_011542847.1:c.82G>T	XP_011541149.1:p.Val28Phe
NM_001351834.1:c.5011G>T	NP_001338763.1:p.Val1671Phe
XM_005271562.5:c.5011G>T	XP_005271619.2:p.Val1671Phe
XM_006718843.4:c.5011G>T	XP_006718906.1:p.Val1671Phe
XM_006718845.2:c.967G>T	XP_006718908.1:p.Val323Phe
XM_011542840.3:c.5011G>T	XP_011541142.1:p.Val1671Phe
XM_011542842.3:c.4846G>T	XP_011541144.1:p.Val1616Phe
XM_011542843.2:c.5011G>T	XP_011541145.1:p.Val1671Phe
XM_011542844.3:c.3967G>T	XP_011541146.1:p.Val1323Phe
XM_011542845.2:c.3703G>T	XP_011541147.1:p.Val1235Phe
XM_017017789.2:c.5011G>T	XP_016873278.1:p.Val1671Phe
XM_017017790.2:c.5011G>T	XP_016873279.1:p.Val1671Phe
XM_017017791.1:c.5011G>T	XP_016873280.1:p.Val1671Phe
XM_017017792.2:c.5011G>T	XP_016873281.1:p.Val1671Phe
XR_002957150.1:n.5611G>T
NM_001351834.2:c.5011G>T	NP_001338763.1:p.Val1671Phe
NM_000051.4:c.5011G>T MANE Select	NP_000042.3:p.Val1671Phe