Canonical Allele Identifier: CA382547952

Gene: ATM

Linked Data

• ClinVar Variation Id: 482620
• ClinVar RCV Id: RCV000563451 ; RCV000806909
• dbSNP Id: rs1555109119
• gnomAD v4: 11-108307949-G-A
• MyVariant Identifiers: chr11:g.108178676G>A (hg19) ; chr11:g.108307949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307949G>A , CM000673.2:g.108307949G>A	GRCh38
NC_000011.9:g.108178676G>A , CM000673.1:g.108178676G>A	GRCh37
NC_000011.8:g.107683886G>A	NCBI36
NG_009830.1:g.90118G>A , LRG_135:g.90118G>A
NG_054724.1:g.166884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5727G>A	ENSP00000388058.2:p.Met1909Ile
ENST00000713593.1:c.*5198G>A	ENSP00000518889.1:n.*5198G>A
ENST00000278616.9:c.5727G>A	ENSP00000278616.4:p.Met1909Ile
ENST00000525056.2:n.146G>A
ENST00000682286.1:n.484G>A
ENST00000682302.1:n.145G>A
ENST00000683174.1:n.7211G>A
ENST00000683524.1:n.951G>A
ENST00000684152.1:n.1441G>A
ENST00000527805.6:c.*791G>A	ENSP00000435747.2:n.*791G>A
ENST00000675595.1:c.*791G>A	ENSP00000502563.1:n.*791G>A
ENST00000675843.1:c.5727G>A MANE Select	ENSP00000501606.1:p.Met1909Ile
ENST00000278616.8:c.5727G>A	ENSP00000278616.4:p.Met1909Ile
ENST00000452508.6:c.5727G>A	ENSP00000388058.2:p.Met1909Ile
ENST00000524792.5:n.1942G>A
ENST00000529588.5:c.187-2211G>A
ENST00000533690.5:n.1131G>A
NM_000051.3:c.5727G>A , LRG_135t1:c.5727G>A	NP_000042.3:p.Met1909Ile
XM_005271561.3:c.5727G>A	XP_005271618.2:p.Met1909Ile
XM_005271562.3:c.5727G>A	XP_005271619.2:p.Met1909Ile
XM_006718843.2:c.5727G>A	XP_006718906.1:p.Met1909Ile
XM_006718845.1:c.1683G>A	XP_006718908.1:p.Met561Ile
XM_011542840.1:c.5727G>A	XP_011541142.1:p.Met1909Ile
XM_011542841.1:c.5727G>A	XP_011541143.1:p.Met1909Ile
XM_011542842.1:c.5562G>A	XP_011541144.1:p.Met1854Ile
XM_011542843.1:c.5727G>A	XP_011541145.1:p.Met1909Ile
XM_011542844.1:c.4683G>A	XP_011541146.1:p.Met1561Ile
XM_011542845.1:c.4419G>A	XP_011541147.1:p.Met1473Ile
XM_011542847.1:c.798G>A	XP_011541149.1:p.Met266Ile
NM_001351834.1:c.5727G>A	NP_001338763.1:p.Met1909Ile
XM_005271562.5:c.5727G>A	XP_005271619.2:p.Met1909Ile
XM_006718843.4:c.5727G>A	XP_006718906.1:p.Met1909Ile
XM_006718845.2:c.1683G>A	XP_006718908.1:p.Met561Ile
XM_011542840.3:c.5727G>A	XP_011541142.1:p.Met1909Ile
XM_011542842.3:c.5562G>A	XP_011541144.1:p.Met1854Ile
XM_011542843.2:c.5727G>A	XP_011541145.1:p.Met1909Ile
XM_011542844.3:c.4683G>A	XP_011541146.1:p.Met1561Ile
XM_011542845.2:c.4419G>A	XP_011541147.1:p.Met1473Ile
XM_017017789.2:c.5727G>A	XP_016873278.1:p.Met1909Ile
XM_017017790.2:c.5727G>A	XP_016873279.1:p.Met1909Ile
XM_017017791.1:c.5727G>A	XP_016873280.1:p.Met1909Ile
XR_002957150.1:n.6327G>A
NM_001351834.2:c.5727G>A	NP_001338763.1:p.Met1909Ile
NM_000051.4:c.5727G>A MANE Select	NP_000042.3:p.Met1909Ile