Canonical Allele Identifier: CA382546705

Gene: ATM

Linked Data

• ClinVar Variation Id: 631294
• ClinVar RCV Id: RCV000777468 ; RCV001369013
• dbSNP Id: rs1565424213
• gnomAD v4: 11-108271072-G-A
• MyVariant Identifiers: chr11:g.108141799G>A (hg19) ; chr11:g.108271072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108271072G>A , CM000673.2:g.108271072G>A	GRCh38
NC_000011.9:g.108141799G>A , CM000673.1:g.108141799G>A	GRCh37
NC_000011.8:g.107647009G>A	NCBI36
NG_009830.1:g.53241G>A , LRG_135:g.53241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2847G>A	ENSP00000388058.2:p.Met949Ile
ENST00000713593.1:c.*2318G>A	ENSP00000518889.1:n.*2318G>A
ENST00000278616.9:c.2847G>A	ENSP00000278616.4:p.Met949Ile
ENST00000682516.1:n.2781G>A
ENST00000683174.1:n.2997G>A
ENST00000684037.1:c.*1582G>A	ENSP00000508245.1:n.*1582G>A
ENST00000527805.6:c.2847G>A	ENSP00000435747.2:p.Met949Ile
ENST00000675595.1:c.2682G>A	ENSP00000502563.1:p.Met894Ile
ENST00000675843.1:c.2847G>A MANE Select	ENSP00000501606.1:p.Met949Ile
ENST00000278616.8:c.2847G>A	ENSP00000278616.4:p.Met949Ile
ENST00000419286.2:n.201-179G>A
ENST00000452508.6:c.2847G>A	ENSP00000388058.2:p.Met949Ile
ENST00000527805.5:c.2847G>A	ENSP00000435747.1:p.Met949Ile
NM_000051.3:c.2847G>A , LRG_135t1:c.2847G>A	NP_000042.3:p.Met949Ile
XM_005271561.3:c.2847G>A	XP_005271618.2:p.Met949Ile
XM_005271562.3:c.2847G>A	XP_005271619.2:p.Met949Ile
XM_006718843.2:c.2847G>A	XP_006718906.1:p.Met949Ile
XM_011542840.1:c.2847G>A	XP_011541142.1:p.Met949Ile
XM_011542841.1:c.2847G>A	XP_011541143.1:p.Met949Ile
XM_011542842.1:c.2682G>A	XP_011541144.1:p.Met894Ile
XM_011542843.1:c.2847G>A	XP_011541145.1:p.Met949Ile
XM_011542844.1:c.1803G>A	XP_011541146.1:p.Met601Ile
XM_011542845.1:c.1539G>A	XP_011541147.1:p.Met513Ile
XM_011542846.1:c.2847G>A	XP_011541148.1:p.Met949Ile
NM_001351834.1:c.2847G>A	NP_001338763.1:p.Met949Ile
XM_005271562.5:c.2847G>A	XP_005271619.2:p.Met949Ile
XM_006718843.4:c.2847G>A	XP_006718906.1:p.Met949Ile
XM_011542840.3:c.2847G>A	XP_011541142.1:p.Met949Ile
XM_011542842.3:c.2682G>A	XP_011541144.1:p.Met894Ile
XM_011542843.2:c.2847G>A	XP_011541145.1:p.Met949Ile
XM_011542844.3:c.1803G>A	XP_011541146.1:p.Met601Ile
XM_011542845.2:c.1539G>A	XP_011541147.1:p.Met513Ile
XM_017017789.2:c.2847G>A	XP_016873278.1:p.Met949Ile
XM_017017790.2:c.2847G>A	XP_016873279.1:p.Met949Ile
XM_017017791.1:c.2847G>A	XP_016873280.1:p.Met949Ile
XM_017017792.2:c.2847G>A	XP_016873281.1:p.Met949Ile
XR_002957150.1:n.3580G>A
NM_001351834.2:c.2847G>A	NP_001338763.1:p.Met949Ile
NM_000051.4:c.2847G>A MANE Select	NP_000042.3:p.Met949Ile