Canonical Allele Identifier: CA228371625

Gene: ATM

Linked Data

• ClinVar Variation Id: 2152129
• ClinVar RCV Id: RCV003079131
• dbSNP Id: rs923836140
• gnomAD v4: 11-108287691-G-A
• MyVariant Identifiers: chr11:g.108158418G>A (hg19) ; chr11:g.108287691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287691G>A , CM000673.2:g.108287691G>A	GRCh38
NC_000011.9:g.108158418G>A , CM000673.1:g.108158418G>A	GRCh37
NC_000011.8:g.107663628G>A	NCBI36
NG_009830.1:g.69860G>A , LRG_135:g.69860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4085G>A	ENSP00000388058.2:p.Ser1362Asn
ENST00000713593.1:c.*3556G>A	ENSP00000518889.1:n.*3556G>A
ENST00000278616.9:c.4085G>A	ENSP00000278616.4:p.Ser1362Asn
ENST00000533733.6:n.1348G>A
ENST00000683174.1:n.4235G>A
ENST00000527805.6:c.4085G>A	ENSP00000435747.2:p.Ser1362Asn
ENST00000675595.1:c.3920G>A	ENSP00000502563.1:p.Ser1307Asn
ENST00000675843.1:c.4085G>A MANE Select	ENSP00000501606.1:p.Ser1362Asn
ENST00000278616.8:c.4085G>A	ENSP00000278616.4:p.Ser1362Asn
ENST00000452508.6:c.4085G>A	ENSP00000388058.2:p.Ser1362Asn
ENST00000524792.5:n.300G>A
ENST00000527805.5:c.4085G>A	ENSP00000435747.1:p.Ser1362Asn
ENST00000531525.2:c.92G>A	ENSP00000434327.2:p.Ser31Asn
ENST00000533733.5:n.514G>A
NM_000051.3:c.4085G>A , LRG_135t1:c.4085G>A	NP_000042.3:p.Ser1362Asn
XM_005271561.3:c.4085G>A	XP_005271618.2:p.Ser1362Asn
XM_005271562.3:c.4085G>A	XP_005271619.2:p.Ser1362Asn
XM_006718843.2:c.4085G>A	XP_006718906.1:p.Ser1362Asn
XM_006718845.1:c.41G>A	XP_006718908.1:p.Ser14Asn
XM_011542840.1:c.4085G>A	XP_011541142.1:p.Ser1362Asn
XM_011542841.1:c.4085G>A	XP_011541143.1:p.Ser1362Asn
XM_011542842.1:c.3920G>A	XP_011541144.1:p.Ser1307Asn
XM_011542843.1:c.4085G>A	XP_011541145.1:p.Ser1362Asn
XM_011542844.1:c.3041G>A	XP_011541146.1:p.Ser1014Asn
XM_011542845.1:c.2777G>A	XP_011541147.1:p.Ser926Asn
XM_011542846.1:c.4085G>A	XP_011541148.1:p.Ser1362Asn
NM_001351834.1:c.4085G>A	NP_001338763.1:p.Ser1362Asn
XM_005271562.5:c.4085G>A	XP_005271619.2:p.Ser1362Asn
XM_006718843.4:c.4085G>A	XP_006718906.1:p.Ser1362Asn
XM_006718845.2:c.41G>A	XP_006718908.1:p.Ser14Asn
XM_011542840.3:c.4085G>A	XP_011541142.1:p.Ser1362Asn
XM_011542842.3:c.3920G>A	XP_011541144.1:p.Ser1307Asn
XM_011542843.2:c.4085G>A	XP_011541145.1:p.Ser1362Asn
XM_011542844.3:c.3041G>A	XP_011541146.1:p.Ser1014Asn
XM_011542845.2:c.2777G>A	XP_011541147.1:p.Ser926Asn
XM_017017789.2:c.4085G>A	XP_016873278.1:p.Ser1362Asn
XM_017017790.2:c.4085G>A	XP_016873279.1:p.Ser1362Asn
XM_017017791.1:c.4085G>A	XP_016873280.1:p.Ser1362Asn
XM_017017792.2:c.4085G>A	XP_016873281.1:p.Ser1362Asn
XR_002957150.1:n.4818G>A
NM_001351834.2:c.4085G>A	NP_001338763.1:p.Ser1362Asn
NM_000051.4:c.4085G>A MANE Select	NP_000042.3:p.Ser1362Asn