Canonical Allele Identifier: CA6264714

Gene: ATM

Linked Data

• ClinVar Variation Id: 236798
• ClinVar RCV Id: RCV000227018 ; RCV000574680 ; RCV003224232 ; RCV003441806 ; RCV003463634
• dbSNP Id: rs776938735
• ExAC: 11:108117775 G / A
• gnomAD v2: 11-108117775-G-A
• gnomAD v3: 11-108247048-G-A
• gnomAD v4: 11-108247048-G-A
• MyVariant Identifiers: chr11:g.108117775G>A (hg19) ; chr11:g.108247048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247048G>A , CM000673.2:g.108247048G>A	GRCh38
NC_000011.9:g.108117775G>A , CM000673.1:g.108117775G>A	GRCh37
NC_000011.8:g.107622985G>A	NCBI36
NG_009830.1:g.29217G>A , LRG_135:g.29217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.986G>A	ENSP00000388058.2:p.Arg329Lys
ENST00000713593.1:c.*457G>A	ENSP00000518889.1:n.*457G>A
ENST00000278616.9:c.986G>A	ENSP00000278616.4:p.Arg329Lys
ENST00000682516.1:n.1120G>A
ENST00000682956.1:n.1120G>A
ENST00000683100.1:n.3333G>A
ENST00000683174.1:n.1136G>A
ENST00000683605.1:n.481G>A
ENST00000684037.1:c.986G>A	ENSP00000508245.1:p.Arg329Lys
ENST00000684061.1:n.1120G>A
ENST00000684179.1:n.955G>A
ENST00000527805.6:c.986G>A	ENSP00000435747.2:p.Arg329Lys
ENST00000675595.1:c.821G>A	ENSP00000502563.1:p.Arg274Lys
ENST00000675843.1:c.986G>A MANE Select	ENSP00000501606.1:p.Arg329Lys
ENST00000278616.8:c.986G>A	ENSP00000278616.4:p.Arg329Lys
ENST00000452508.6:c.986G>A	ENSP00000388058.2:p.Arg329Lys
ENST00000527805.5:c.986G>A	ENSP00000435747.1:p.Arg329Lys
NM_000051.3:c.986G>A , LRG_135t1:c.986G>A	NP_000042.3:p.Arg329Lys
XM_005271561.3:c.986G>A	XP_005271618.2:p.Arg329Lys
XM_005271562.3:c.986G>A	XP_005271619.2:p.Arg329Lys
XM_006718843.2:c.986G>A	XP_006718906.1:p.Arg329Lys
XM_011542840.1:c.986G>A	XP_011541142.1:p.Arg329Lys
XM_011542841.1:c.986G>A	XP_011541143.1:p.Arg329Lys
XM_011542842.1:c.821G>A	XP_011541144.1:p.Arg274Lys
XM_011542843.1:c.986G>A	XP_011541145.1:p.Arg329Lys
XM_011542844.1:c.-59G>A	XP_011541146.1:n.-59G>A
XM_011542845.1:c.-153G>A	XP_011541147.1:n.-153G>A
XM_011542846.1:c.986G>A	XP_011541148.1:p.Arg329Lys
NM_001351834.1:c.986G>A	NP_001338763.1:p.Arg329Lys
XM_005271562.5:c.986G>A	XP_005271619.2:p.Arg329Lys
XM_006718843.4:c.986G>A	XP_006718906.1:p.Arg329Lys
XM_011542840.3:c.986G>A	XP_011541142.1:p.Arg329Lys
XM_011542842.3:c.821G>A	XP_011541144.1:p.Arg274Lys
XM_011542843.2:c.986G>A	XP_011541145.1:p.Arg329Lys
XM_011542844.3:c.-59G>A	XP_011541146.1:n.-59G>A
XM_011542845.2:c.-153G>A	XP_011541147.1:n.-153G>A
XM_017017789.2:c.986G>A	XP_016873278.1:p.Arg329Lys
XM_017017790.2:c.986G>A	XP_016873279.1:p.Arg329Lys
XM_017017791.1:c.986G>A	XP_016873280.1:p.Arg329Lys
XM_017017792.2:c.986G>A	XP_016873281.1:p.Arg329Lys
XR_002957150.1:n.1719G>A
NM_001351834.2:c.986G>A	NP_001338763.1:p.Arg329Lys
NM_000051.4:c.986G>A MANE Select	NP_000042.3:p.Arg329Lys