Canonical Allele Identifier: CA16613065

Gene: ATM

Linked Data

• ClinVar Variation Id: 407496
• ClinVar RCV Id: RCV000463817 ; RCV000580727
• dbSNP Id: rs373789346
• gnomAD v4: 11-108301659-G-T
• MyVariant Identifiers: chr11:g.108172386G>T (hg19) ; chr11:g.108301659G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301659G>T , CM000673.2:g.108301659G>T	GRCh38
NC_000011.9:g.108172386G>T , CM000673.1:g.108172386G>T	GRCh37
NC_000011.8:g.107677596G>T	NCBI36
NG_009830.1:g.83828G>T , LRG_135:g.83828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5189G>T	ENSP00000388058.2:p.Arg1730Leu
ENST00000713593.1:c.*4660G>T	ENSP00000518889.1:n.*4660G>T
ENST00000278616.9:c.5189G>T	ENSP00000278616.4:p.Arg1730Leu
ENST00000683174.1:n.6673G>T
ENST00000683524.1:n.413G>T
ENST00000684152.1:n.903G>T
ENST00000527805.6:c.*253G>T	ENSP00000435747.2:n.*253G>T
ENST00000675595.1:c.*253G>T	ENSP00000502563.1:n.*253G>T
ENST00000675843.1:c.5189G>T MANE Select	ENSP00000501606.1:p.Arg1730Leu
ENST00000278616.8:c.5189G>T	ENSP00000278616.4:p.Arg1730Leu
ENST00000452508.6:c.5189G>T	ENSP00000388058.2:p.Arg1730Leu
ENST00000524792.5:n.1404G>T
ENST00000533690.5:n.593G>T
ENST00000534625.1:n.418G>T
NM_000051.3:c.5189G>T , LRG_135t1:c.5189G>T	NP_000042.3:p.Arg1730Leu
XM_005271561.3:c.5189G>T	XP_005271618.2:p.Arg1730Leu
XM_005271562.3:c.5189G>T	XP_005271619.2:p.Arg1730Leu
XM_006718843.2:c.5189G>T	XP_006718906.1:p.Arg1730Leu
XM_006718845.1:c.1145G>T	XP_006718908.1:p.Arg382Leu
XM_011542840.1:c.5189G>T	XP_011541142.1:p.Arg1730Leu
XM_011542841.1:c.5189G>T	XP_011541143.1:p.Arg1730Leu
XM_011542842.1:c.5024G>T	XP_011541144.1:p.Arg1675Leu
XM_011542843.1:c.5189G>T	XP_011541145.1:p.Arg1730Leu
XM_011542844.1:c.4145G>T	XP_011541146.1:p.Arg1382Leu
XM_011542845.1:c.3881G>T	XP_011541147.1:p.Arg1294Leu
XM_011542846.1:c.5189G>T	XP_011541148.1:p.Arg1730Leu
XM_011542847.1:c.260G>T	XP_011541149.1:p.Arg87Leu
NM_001351834.1:c.5189G>T	NP_001338763.1:p.Arg1730Leu
XM_005271562.5:c.5189G>T	XP_005271619.2:p.Arg1730Leu
XM_006718843.4:c.5189G>T	XP_006718906.1:p.Arg1730Leu
XM_006718845.2:c.1145G>T	XP_006718908.1:p.Arg382Leu
XM_011542840.3:c.5189G>T	XP_011541142.1:p.Arg1730Leu
XM_011542842.3:c.5024G>T	XP_011541144.1:p.Arg1675Leu
XM_011542843.2:c.5189G>T	XP_011541145.1:p.Arg1730Leu
XM_011542844.3:c.4145G>T	XP_011541146.1:p.Arg1382Leu
XM_011542845.2:c.3881G>T	XP_011541147.1:p.Arg1294Leu
XM_017017789.2:c.5189G>T	XP_016873278.1:p.Arg1730Leu
XM_017017790.2:c.5189G>T	XP_016873279.1:p.Arg1730Leu
XM_017017791.1:c.5189G>T	XP_016873280.1:p.Arg1730Leu
XM_017017792.2:c.5189G>T	XP_016873281.1:p.Arg1730Leu
XR_002957150.1:n.5789G>T
NM_001351834.2:c.5189G>T	NP_001338763.1:p.Arg1730Leu
NM_000051.4:c.5189G>T MANE Select	NP_000042.3:p.Arg1730Leu