Canonical Allele Identifier: CA382544182

Gene: ATM

Linked Data

• dbSNP Id: rs2135930084
• MyVariant Identifiers: chr11:g.108173704A>G (hg19) ; chr11:g.108302977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302977A>G , CM000673.2:g.108302977A>G	GRCh38
NC_000011.9:g.108173704A>G , CM000673.1:g.108173704A>G	GRCh37
NC_000011.8:g.107678914A>G	NCBI36
NG_009830.1:g.85146A>G , LRG_135:g.85146A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5444A>G	ENSP00000388058.2:p.Asp1815Gly
ENST00000713593.1:c.*4915A>G	ENSP00000518889.1:n.*4915A>G
ENST00000278616.9:c.5444A>G	ENSP00000278616.4:p.Asp1815Gly
ENST00000683174.1:n.6928A>G
ENST00000683524.1:n.668A>G
ENST00000684152.1:n.1158A>G
ENST00000527805.6:c.*508A>G	ENSP00000435747.2:n.*508A>G
ENST00000675595.1:c.*508A>G	ENSP00000502563.1:n.*508A>G
ENST00000675843.1:c.5444A>G MANE Select	ENSP00000501606.1:p.Asp1815Gly
ENST00000278616.8:c.5444A>G	ENSP00000278616.4:p.Asp1815Gly
ENST00000452508.6:c.5444A>G	ENSP00000388058.2:p.Asp1815Gly
ENST00000524792.5:n.1659A>G
ENST00000533690.5:n.848A>G
ENST00000534625.1:n.673A>G
NM_000051.3:c.5444A>G , LRG_135t1:c.5444A>G	NP_000042.3:p.Asp1815Gly
XM_005271561.3:c.5444A>G	XP_005271618.2:p.Asp1815Gly
XM_005271562.3:c.5444A>G	XP_005271619.2:p.Asp1815Gly
XM_006718843.2:c.5444A>G	XP_006718906.1:p.Asp1815Gly
XM_006718845.1:c.1400A>G	XP_006718908.1:p.Asp467Gly
XM_011542840.1:c.5444A>G	XP_011541142.1:p.Asp1815Gly
XM_011542841.1:c.5444A>G	XP_011541143.1:p.Asp1815Gly
XM_011542842.1:c.5279A>G	XP_011541144.1:p.Asp1760Gly
XM_011542843.1:c.5444A>G	XP_011541145.1:p.Asp1815Gly
XM_011542844.1:c.4400A>G	XP_011541146.1:p.Asp1467Gly
XM_011542845.1:c.4136A>G	XP_011541147.1:p.Asp1379Gly
XM_011542847.1:c.515A>G	XP_011541149.1:p.Asp172Gly
NM_001351834.1:c.5444A>G	NP_001338763.1:p.Asp1815Gly
XM_005271562.5:c.5444A>G	XP_005271619.2:p.Asp1815Gly
XM_006718843.4:c.5444A>G	XP_006718906.1:p.Asp1815Gly
XM_006718845.2:c.1400A>G	XP_006718908.1:p.Asp467Gly
XM_011542840.3:c.5444A>G	XP_011541142.1:p.Asp1815Gly
XM_011542842.3:c.5279A>G	XP_011541144.1:p.Asp1760Gly
XM_011542843.2:c.5444A>G	XP_011541145.1:p.Asp1815Gly
XM_011542844.3:c.4400A>G	XP_011541146.1:p.Asp1467Gly
XM_011542845.2:c.4136A>G	XP_011541147.1:p.Asp1379Gly
XM_017017789.2:c.5444A>G	XP_016873278.1:p.Asp1815Gly
XM_017017790.2:c.5444A>G	XP_016873279.1:p.Asp1815Gly
XM_017017791.1:c.5444A>G	XP_016873280.1:p.Asp1815Gly
XR_002957150.1:n.6044A>G
NM_001351834.2:c.5444A>G	NP_001338763.1:p.Asp1815Gly
NM_000051.4:c.5444A>G MANE Select	NP_000042.3:p.Asp1815Gly