Canonical Allele Identifier: CA382530854

Gene: ATM

Linked Data

• ClinVar Variation Id: 478985
• ClinVar RCV Id: RCV000573160 ; RCV002527968
• dbSNP Id: rs1445292591
• gnomAD v4: 11-108247011-G-T
• MyVariant Identifiers: chr11:g.108117738G>T (hg19) ; chr11:g.108247011G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247011G>T , CM000673.2:g.108247011G>T	GRCh38
NC_000011.9:g.108117738G>T , CM000673.1:g.108117738G>T	GRCh37
NC_000011.8:g.107622948G>T	NCBI36
NG_009830.1:g.29180G>T , LRG_135:g.29180G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.949G>T	ENSP00000388058.2:p.Asp317Tyr
ENST00000713593.1:c.*420G>T	ENSP00000518889.1:n.*420G>T
ENST00000278616.9:c.949G>T	ENSP00000278616.4:p.Asp317Tyr
ENST00000682516.1:n.1083G>T
ENST00000682956.1:n.1083G>T
ENST00000683100.1:n.3296G>T
ENST00000683174.1:n.1099G>T
ENST00000683605.1:n.444G>T
ENST00000684037.1:c.949G>T	ENSP00000508245.1:p.Asp317Tyr
ENST00000684061.1:n.1083G>T
ENST00000684179.1:n.918G>T
ENST00000527805.6:c.949G>T	ENSP00000435747.2:p.Asp317Tyr
ENST00000675595.1:c.784G>T	ENSP00000502563.1:p.Asp262Tyr
ENST00000675843.1:c.949G>T MANE Select	ENSP00000501606.1:p.Asp317Tyr
ENST00000278616.8:c.949G>T	ENSP00000278616.4:p.Asp317Tyr
ENST00000452508.6:c.949G>T	ENSP00000388058.2:p.Asp317Tyr
ENST00000527805.5:c.949G>T	ENSP00000435747.1:p.Asp317Tyr
NM_000051.3:c.949G>T , LRG_135t1:c.949G>T	NP_000042.3:p.Asp317Tyr
XM_005271561.3:c.949G>T	XP_005271618.2:p.Asp317Tyr
XM_005271562.3:c.949G>T	XP_005271619.2:p.Asp317Tyr
XM_006718843.2:c.949G>T	XP_006718906.1:p.Asp317Tyr
XM_011542840.1:c.949G>T	XP_011541142.1:p.Asp317Tyr
XM_011542841.1:c.949G>T	XP_011541143.1:p.Asp317Tyr
XM_011542842.1:c.784G>T	XP_011541144.1:p.Asp262Tyr
XM_011542843.1:c.949G>T	XP_011541145.1:p.Asp317Tyr
XM_011542844.1:c.-96G>T	XP_011541146.1:n.-96G>T
XM_011542846.1:c.949G>T	XP_011541148.1:p.Asp317Tyr
NM_001351834.1:c.949G>T	NP_001338763.1:p.Asp317Tyr
XM_005271562.5:c.949G>T	XP_005271619.2:p.Asp317Tyr
XM_006718843.4:c.949G>T	XP_006718906.1:p.Asp317Tyr
XM_011542840.3:c.949G>T	XP_011541142.1:p.Asp317Tyr
XM_011542842.3:c.784G>T	XP_011541144.1:p.Asp262Tyr
XM_011542843.2:c.949G>T	XP_011541145.1:p.Asp317Tyr
XM_011542844.3:c.-96G>T	XP_011541146.1:n.-96G>T
XM_017017789.2:c.949G>T	XP_016873278.1:p.Asp317Tyr
XM_017017790.2:c.949G>T	XP_016873279.1:p.Asp317Tyr
XM_017017791.1:c.949G>T	XP_016873280.1:p.Asp317Tyr
XM_017017792.2:c.949G>T	XP_016873281.1:p.Asp317Tyr
XR_002957150.1:n.1682G>T
NM_001351834.2:c.949G>T	NP_001338763.1:p.Asp317Tyr
NM_000051.4:c.949G>T MANE Select	NP_000042.3:p.Asp317Tyr