Canonical Allele Identifier: CA286788

Gene: ATM

Linked Data

• ClinVar Variation Id: 127362
• ClinVar RCV Id: RCV000115167 ; RCV000119220 ; RCV000211991 ; RCV000584904 ; RCV001356395 ; RCV001798313
• dbSNP Id: rs139552233
• ExAC: 11:108141988 T / C
• gnomAD v2: 11-108141988-T-C
• gnomAD v3: 11-108271261-T-C
• gnomAD v4: 11-108271261-T-C
• COSMIC: COSM21828
• MyVariant Identifiers: chr11:g.108141988T>C (hg19) ; chr11:g.108271261T>C (hg38)
• PubMed: PMID:16631465 ; PMID:17876757 ; PMID:19781682 ; PMID:20305132 ; PMID:22649200 ; PMID:23891399 ; PMID:24549055 ; PMID:25587027 ; PMID:25980754 ; PMID:26898890 ; PMID:27153395

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108271261T>C , CM000673.2:g.108271261T>C	GRCh38
NC_000011.9:g.108141988T>C , CM000673.1:g.108141988T>C	GRCh37
NC_000011.8:g.107647198T>C	NCBI36
NG_009830.1:g.53430T>C , LRG_135:g.53430T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2932T>C	ENSP00000388058.2:p.Ser978Pro
ENST00000713593.1:c.*2403T>C	ENSP00000518889.1:n.*2403T>C
ENST00000278616.9:c.2932T>C	ENSP00000278616.4:p.Ser978Pro
ENST00000682516.1:n.2866T>C
ENST00000683174.1:n.3082T>C
ENST00000684037.1:c.*1667T>C	ENSP00000508245.1:n.*1667T>C
ENST00000527805.6:c.2932T>C	ENSP00000435747.2:p.Ser978Pro
ENST00000675595.1:c.2767T>C	ENSP00000502563.1:p.Ser923Pro
ENST00000675843.1:c.2932T>C MANE Select	ENSP00000501606.1:p.Ser978Pro
ENST00000278616.8:c.2932T>C	ENSP00000278616.4:p.Ser978Pro
ENST00000419286.2:n.211T>C
ENST00000452508.6:c.2932T>C	ENSP00000388058.2:p.Ser978Pro
ENST00000527805.5:c.2932T>C	ENSP00000435747.1:p.Ser978Pro
NM_000051.3:c.2932T>C , LRG_135t1:c.2932T>C	NP_000042.3:p.Ser978Pro
XM_005271561.3:c.2932T>C	XP_005271618.2:p.Ser978Pro
XM_005271562.3:c.2932T>C	XP_005271619.2:p.Ser978Pro
XM_006718843.2:c.2932T>C	XP_006718906.1:p.Ser978Pro
XM_011542840.1:c.2932T>C	XP_011541142.1:p.Ser978Pro
XM_011542841.1:c.2932T>C	XP_011541143.1:p.Ser978Pro
XM_011542842.1:c.2767T>C	XP_011541144.1:p.Ser923Pro
XM_011542843.1:c.2932T>C	XP_011541145.1:p.Ser978Pro
XM_011542844.1:c.1888T>C	XP_011541146.1:p.Ser630Pro
XM_011542845.1:c.1624T>C	XP_011541147.1:p.Ser542Pro
XM_011542846.1:c.2932T>C	XP_011541148.1:p.Ser978Pro
NM_001351834.1:c.2932T>C	NP_001338763.1:p.Ser978Pro
XM_005271562.5:c.2932T>C	XP_005271619.2:p.Ser978Pro
XM_006718843.4:c.2932T>C	XP_006718906.1:p.Ser978Pro
XM_011542840.3:c.2932T>C	XP_011541142.1:p.Ser978Pro
XM_011542842.3:c.2767T>C	XP_011541144.1:p.Ser923Pro
XM_011542843.2:c.2932T>C	XP_011541145.1:p.Ser978Pro
XM_011542844.3:c.1888T>C	XP_011541146.1:p.Ser630Pro
XM_011542845.2:c.1624T>C	XP_011541147.1:p.Ser542Pro
XM_017017789.2:c.2932T>C	XP_016873278.1:p.Ser978Pro
XM_017017790.2:c.2932T>C	XP_016873279.1:p.Ser978Pro
XM_017017791.1:c.2932T>C	XP_016873280.1:p.Ser978Pro
XM_017017792.2:c.2932T>C	XP_016873281.1:p.Ser978Pro
XR_002957150.1:n.3665T>C
NM_001351834.2:c.2932T>C	NP_001338763.1:p.Ser978Pro
NM_000051.4:c.2932T>C MANE Select	NP_000042.3:p.Ser978Pro