Canonical Allele Identifier: CA382521837

Gene: ATM

Linked Data

• ClinVar Variation Id: 487450
• ClinVar RCV Id: RCV000576405 ; RCV000788912 ; RCV000777474 ; RCV003459414
• dbSNP Id: rs1555055356
• gnomAD v4: 11-108229324-G-A
• MyVariant Identifiers: chr11:g.108100051G>A (hg19) ; chr11:g.108229324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108229324G>A , CM000673.2:g.108229324G>A	GRCh38
NC_000011.9:g.108100051G>A , CM000673.1:g.108100051G>A	GRCh37
NC_000011.8:g.107605261G>A	NCBI36
NG_009830.1:g.11493G>A , LRG_135:g.11493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.331+1G>A	ENSP00000388058.2:n.331+1G>A
ENST00000683914.2:c.332G>A	ENSP00000507649.1:p.Ser111Asn
ENST00000713593.1:c.331+1G>A	ENSP00000518889.1:n.331+1G>A
ENST00000278616.9:c.331+1G>A	ENSP00000278616.4:n.331+1G>A
ENST00000682147.1:n.461+1G>A
ENST00000682430.1:n.430+1G>A
ENST00000682465.1:c.332G>A	ENSP00000508284.1:p.Ser111Asn
ENST00000682516.1:n.465+1G>A
ENST00000682956.1:n.465+1G>A
ENST00000683150.1:c.332G>A	ENSP00000507125.1:p.Ser111Asn
ENST00000683174.1:n.481+1G>A
ENST00000683468.1:c.332G>A	ENSP00000508178.1:p.Ser111Asn
ENST00000683488.1:n.4992G>A
ENST00000683914.1:c.332G>A	ENSP00000507649.1:p.Ser111Asn
ENST00000684029.1:c.331+1G>A	ENSP00000508010.1:n.331+1G>A
ENST00000684037.1:c.331+1G>A	ENSP00000508245.1:n.331+1G>A
ENST00000684061.1:n.465+1G>A
ENST00000684179.1:n.465+1G>A
ENST00000527805.6:c.331+1G>A	ENSP00000435747.2:n.331+1G>A
ENST00000638443.1:c.332G>A	ENSP00000491957.1:p.Ser111Asn
ENST00000639240.1:c.332G>A	ENSP00000491585.1:p.Ser111Asn
ENST00000639953.1:c.332G>A	ENSP00000492487.1:p.Ser111Asn
ENST00000640388.1:c.332G>A	ENSP00000492354.1:p.Ser111Asn
ENST00000675595.1:c.331+1G>A	ENSP00000502563.1:n.331+1G>A
ENST00000675843.1:c.331+1G>A MANE Select	ENSP00000501606.1:n.331+1G>A
ENST00000278616.8:c.331+1G>A	ENSP00000278616.4:n.331+1G>A
ENST00000452508.6:c.331+1G>A	ENSP00000388058.2:n.331+1G>A
ENST00000526567.5:c.332G>A	ENSP00000480205.1:p.Ser111Asn
ENST00000527805.5:c.331+1G>A	ENSP00000435747.1:n.331+1G>A
ENST00000527891.5:c.331+1G>A	ENSP00000433955.1:n.331+1G>A
ENST00000530958.5:c.331+1G>A	ENSP00000483338.1:n.331+1G>A
ENST00000601453.2:c.331+1G>A	ENSP00000469471.1:n.331+1G>A
NM_000051.3:c.331+1G>A , LRG_135t1:c.331+1G>A	NP_000042.3:n.331+1G>A
XM_005271561.3:c.331+1G>A	XP_005271618.2:n.331+1G>A
XM_005271562.3:c.331+1G>A	XP_005271619.2:n.331+1G>A
XM_006718843.2:c.331+1G>A	XP_006718906.1:n.331+1G>A
XM_011542840.1:c.331+1G>A	XP_011541142.1:n.331+1G>A
XM_011542841.1:c.331+1G>A	XP_011541143.1:n.331+1G>A
XM_011542842.1:c.331+1G>A	XP_011541144.1:n.331+1G>A
XM_011542843.1:c.331+1G>A	XP_011541145.1:n.331+1G>A
XM_011542846.1:c.331+1G>A	XP_011541148.1:n.331+1G>A
NM_001351834.1:c.331+1G>A	NP_001338763.1:n.331+1G>A
NM_001351835.1:c.332G>A	NP_001338764.1:p.Ser111Asn
NM_001351836.1:c.332G>A	NP_001338765.1:p.Ser111Asn
XM_005271562.5:c.331+1G>A	XP_005271619.2:n.331+1G>A
XM_006718843.4:c.331+1G>A	XP_006718906.1:n.331+1G>A
XM_011542840.3:c.331+1G>A	XP_011541142.1:n.331+1G>A
XM_011542842.3:c.331+1G>A	XP_011541144.1:n.331+1G>A
XM_011542843.2:c.331+1G>A	XP_011541145.1:n.331+1G>A
XM_011542844.3:c.-692+1G>A	XP_011541146.1:n.-692+1G>A
XM_017017789.2:c.331+1G>A	XP_016873278.1:n.331+1G>A
XM_017017790.2:c.331+1G>A	XP_016873279.1:n.331+1G>A
XM_017017791.1:c.331+1G>A	XP_016873280.1:n.331+1G>A
XM_017017792.2:c.331+1G>A	XP_016873281.1:n.331+1G>A
XR_002957150.1:n.1064+1G>A
NM_001351834.2:c.331+1G>A	NP_001338763.1:n.331+1G>A
NM_000051.4:c.331+1G>A MANE Select	NP_000042.3:n.331+1G>A
NM_001351835.2:c.332G>A	NP_001338764.1:p.Ser111Asn
NM_001351836.2:c.332G>A	NP_001338765.1:p.Ser111Asn