Canonical Allele Identifier: CA286735

Gene: ATM

Linked Data

• ClinVar Variation Id: 127341
• ClinVar RCV Id: RCV000115145 ; RCV000197540 ; RCV000211942 ; RCV001257476 ; RCV001258115 ; RCV001509557
• dbSNP Id: rs587779818
• gnomAD v3: 11-108227873-G-A
• gnomAD v4: 11-108227873-G-A
• MyVariant Identifiers: chr11:g.108098600G>A (hg19) ; chr11:g.108227873G>A (hg38)
• PubMed: PMID:10817650 ; PMID:21787400 ; PMID:22585167 ; PMID:24512911 ; PMID:25525159 ; PMID:26681312 ; PMID:27083775 ; PMID:27153395 ; PMID:27276934

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108227873G>A , CM000673.2:g.108227873G>A	GRCh38
NC_000011.9:g.108098600G>A , CM000673.1:g.108098600G>A	GRCh37
NC_000011.8:g.107603810G>A	NCBI36
NG_009830.1:g.10042G>A , LRG_135:g.10042G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.170G>A	ENSP00000388058.2:p.Trp57Ter
ENST00000683914.2:c.170G>A	ENSP00000507649.1:p.Trp57Ter
ENST00000713593.1:c.170G>A	ENSP00000518889.1:p.Trp57Ter
ENST00000278616.9:c.170G>A	ENSP00000278616.4:p.Trp57Ter
ENST00000682147.1:n.300G>A
ENST00000682430.1:n.269G>A
ENST00000682465.1:c.170G>A	ENSP00000508284.1:p.Trp57Ter
ENST00000682516.1:n.304G>A
ENST00000682956.1:n.304G>A
ENST00000683150.1:c.170G>A	ENSP00000507125.1:p.Trp57Ter
ENST00000683174.1:n.320G>A
ENST00000683468.1:c.170G>A	ENSP00000508178.1:p.Trp57Ter
ENST00000683488.1:n.4830G>A
ENST00000683914.1:c.170G>A	ENSP00000507649.1:p.Trp57Ter
ENST00000684029.1:c.170G>A	ENSP00000508010.1:p.Trp57Ter
ENST00000684037.1:c.170G>A	ENSP00000508245.1:p.Trp57Ter
ENST00000684061.1:n.304G>A
ENST00000684179.1:n.304G>A
ENST00000527805.6:c.170G>A	ENSP00000435747.2:p.Trp57Ter
ENST00000638443.1:c.170G>A	ENSP00000491957.1:p.Trp57Ter
ENST00000639240.1:c.170G>A	ENSP00000491585.1:p.Trp57Ter
ENST00000639953.1:c.170G>A	ENSP00000492487.1:p.Trp57Ter
ENST00000640388.1:c.170G>A	ENSP00000492354.1:p.Trp57Ter
ENST00000675595.1:c.170G>A	ENSP00000502563.1:p.Trp57Ter
ENST00000675843.1:c.170G>A MANE Select	ENSP00000501606.1:p.Trp57Ter
ENST00000278616.8:c.170G>A	ENSP00000278616.4:p.Trp57Ter
ENST00000452508.6:c.170G>A	ENSP00000388058.2:p.Trp57Ter
ENST00000526567.5:c.170G>A	ENSP00000480205.1:p.Trp57Ter
ENST00000527805.5:c.170G>A	ENSP00000435747.1:p.Trp57Ter
ENST00000527891.5:c.170G>A	ENSP00000433955.1:p.Trp57Ter
ENST00000530958.5:c.170G>A	ENSP00000483338.1:p.Trp57Ter
ENST00000532931.5:c.170G>A	ENSP00000432318.1:p.Trp57Ter
ENST00000601453.2:c.170G>A	ENSP00000469471.1:p.Trp57Ter
NM_000051.3:c.170G>A , LRG_135t1:c.170G>A	NP_000042.3:p.Trp57Ter
XM_005271561.3:c.170G>A	XP_005271618.2:p.Trp57Ter
XM_005271562.3:c.170G>A	XP_005271619.2:p.Trp57Ter
XM_006718843.2:c.170G>A	XP_006718906.1:p.Trp57Ter
XM_011542840.1:c.170G>A	XP_011541142.1:p.Trp57Ter
XM_011542841.1:c.170G>A	XP_011541143.1:p.Trp57Ter
XM_011542842.1:c.170G>A	XP_011541144.1:p.Trp57Ter
XM_011542843.1:c.170G>A	XP_011541145.1:p.Trp57Ter
XM_011542846.1:c.170G>A	XP_011541148.1:p.Trp57Ter
NM_001351834.1:c.170G>A	NP_001338763.1:p.Trp57Ter
NM_001351835.1:c.170G>A	NP_001338764.1:p.Trp57Ter
NM_001351836.1:c.170G>A	NP_001338765.1:p.Trp57Ter
XM_005271562.5:c.170G>A	XP_005271619.2:p.Trp57Ter
XM_006718843.4:c.170G>A	XP_006718906.1:p.Trp57Ter
XM_011542840.3:c.170G>A	XP_011541142.1:p.Trp57Ter
XM_011542842.3:c.170G>A	XP_011541144.1:p.Trp57Ter
XM_011542843.2:c.170G>A	XP_011541145.1:p.Trp57Ter
XM_011542844.3:c.-853G>A	XP_011541146.1:n.-853G>A
XM_017017789.2:c.170G>A	XP_016873278.1:p.Trp57Ter
XM_017017790.2:c.170G>A	XP_016873279.1:p.Trp57Ter
XM_017017791.1:c.170G>A	XP_016873280.1:p.Trp57Ter
XM_017017792.2:c.170G>A	XP_016873281.1:p.Trp57Ter
XR_002957150.1:n.903G>A
NM_001351834.2:c.170G>A	NP_001338763.1:p.Trp57Ter
NM_000051.4:c.170G>A MANE Select	NP_000042.3:p.Trp57Ter
NM_001351835.2:c.170G>A	NP_001338764.1:p.Trp57Ter
NM_001351836.2:c.170G>A	NP_001338765.1:p.Trp57Ter