Canonical Allele Identifier: CA382547779

Gene: ATM

Linked Data

• dbSNP Id: rs587782516
• MyVariant Identifiers: chr11:g.108178639T>A (hg19) ; chr11:g.108307912T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307912T>A , CM000673.2:g.108307912T>A	GRCh38
NC_000011.9:g.108178639T>A , CM000673.1:g.108178639T>A	GRCh37
NC_000011.8:g.107683849T>A	NCBI36
NG_009830.1:g.90081T>A , LRG_135:g.90081T>A
NG_054724.1:g.166921A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5690T>A	ENSP00000388058.2:p.Phe1897Tyr
ENST00000713593.1:c.*5161T>A	ENSP00000518889.1:n.*5161T>A
ENST00000278616.9:c.5690T>A	ENSP00000278616.4:p.Phe1897Tyr
ENST00000525056.2:n.109T>A
ENST00000682286.1:n.447T>A
ENST00000682302.1:n.108T>A
ENST00000683174.1:n.7174T>A
ENST00000683524.1:n.914T>A
ENST00000684152.1:n.1404T>A
ENST00000527805.6:c.*754T>A	ENSP00000435747.2:n.*754T>A
ENST00000675595.1:c.*754T>A	ENSP00000502563.1:n.*754T>A
ENST00000675843.1:c.5690T>A MANE Select	ENSP00000501606.1:p.Phe1897Tyr
ENST00000278616.8:c.5690T>A	ENSP00000278616.4:p.Phe1897Tyr
ENST00000452508.6:c.5690T>A	ENSP00000388058.2:p.Phe1897Tyr
ENST00000524792.5:n.1905T>A
ENST00000529588.5:c.187-2248T>A
ENST00000533690.5:n.1094T>A
NM_000051.3:c.5690T>A , LRG_135t1:c.5690T>A	NP_000042.3:p.Phe1897Tyr
XM_005271561.3:c.5690T>A	XP_005271618.2:p.Phe1897Tyr
XM_005271562.3:c.5690T>A	XP_005271619.2:p.Phe1897Tyr
XM_006718843.2:c.5690T>A	XP_006718906.1:p.Phe1897Tyr
XM_006718845.1:c.1646T>A	XP_006718908.1:p.Phe549Tyr
XM_011542840.1:c.5690T>A	XP_011541142.1:p.Phe1897Tyr
XM_011542841.1:c.5690T>A	XP_011541143.1:p.Phe1897Tyr
XM_011542842.1:c.5525T>A	XP_011541144.1:p.Phe1842Tyr
XM_011542843.1:c.5690T>A	XP_011541145.1:p.Phe1897Tyr
XM_011542844.1:c.4646T>A	XP_011541146.1:p.Phe1549Tyr
XM_011542845.1:c.4382T>A	XP_011541147.1:p.Phe1461Tyr
XM_011542847.1:c.761T>A	XP_011541149.1:p.Phe254Tyr
NM_001351834.1:c.5690T>A	NP_001338763.1:p.Phe1897Tyr
XM_005271562.5:c.5690T>A	XP_005271619.2:p.Phe1897Tyr
XM_006718843.4:c.5690T>A	XP_006718906.1:p.Phe1897Tyr
XM_006718845.2:c.1646T>A	XP_006718908.1:p.Phe549Tyr
XM_011542840.3:c.5690T>A	XP_011541142.1:p.Phe1897Tyr
XM_011542842.3:c.5525T>A	XP_011541144.1:p.Phe1842Tyr
XM_011542843.2:c.5690T>A	XP_011541145.1:p.Phe1897Tyr
XM_011542844.3:c.4646T>A	XP_011541146.1:p.Phe1549Tyr
XM_011542845.2:c.4382T>A	XP_011541147.1:p.Phe1461Tyr
XM_017017789.2:c.5690T>A	XP_016873278.1:p.Phe1897Tyr
XM_017017790.2:c.5690T>A	XP_016873279.1:p.Phe1897Tyr
XM_017017791.1:c.5690T>A	XP_016873280.1:p.Phe1897Tyr
XR_002957150.1:n.6290T>A
NM_001351834.2:c.5690T>A	NP_001338763.1:p.Phe1897Tyr
NM_000051.4:c.5690T>A MANE Select	NP_000042.3:p.Phe1897Tyr