Canonical Allele Identifier: CA382543093

Gene: ATM

Linked Data

• dbSNP Id: rs756892492
• MyVariant Identifiers: chr11:g.108173593C>G (hg19) ; chr11:g.108302866C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302866C>G , CM000673.2:g.108302866C>G	GRCh38
NC_000011.9:g.108173593C>G , CM000673.1:g.108173593C>G	GRCh37
NC_000011.8:g.107678803C>G	NCBI36
NG_009830.1:g.85035C>G , LRG_135:g.85035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5333C>G	ENSP00000388058.2:p.Pro1778Arg
ENST00000713593.1:c.*4804C>G	ENSP00000518889.1:n.*4804C>G
ENST00000278616.9:c.5333C>G	ENSP00000278616.4:p.Pro1778Arg
ENST00000683174.1:n.6817C>G
ENST00000683524.1:n.557C>G
ENST00000684152.1:n.1047C>G
ENST00000527805.6:c.*397C>G	ENSP00000435747.2:n.*397C>G
ENST00000675595.1:c.*397C>G	ENSP00000502563.1:n.*397C>G
ENST00000675843.1:c.5333C>G MANE Select	ENSP00000501606.1:p.Pro1778Arg
ENST00000278616.8:c.5333C>G	ENSP00000278616.4:p.Pro1778Arg
ENST00000452508.6:c.5333C>G	ENSP00000388058.2:p.Pro1778Arg
ENST00000524792.5:n.1548C>G
ENST00000533690.5:n.737C>G
ENST00000534625.1:n.562C>G
NM_000051.3:c.5333C>G , LRG_135t1:c.5333C>G	NP_000042.3:p.Pro1778Arg
XM_005271561.3:c.5333C>G	XP_005271618.2:p.Pro1778Arg
XM_005271562.3:c.5333C>G	XP_005271619.2:p.Pro1778Arg
XM_006718843.2:c.5333C>G	XP_006718906.1:p.Pro1778Arg
XM_006718845.1:c.1289C>G	XP_006718908.1:p.Pro430Arg
XM_011542840.1:c.5333C>G	XP_011541142.1:p.Pro1778Arg
XM_011542841.1:c.5333C>G	XP_011541143.1:p.Pro1778Arg
XM_011542842.1:c.5168C>G	XP_011541144.1:p.Pro1723Arg
XM_011542843.1:c.5333C>G	XP_011541145.1:p.Pro1778Arg
XM_011542844.1:c.4289C>G	XP_011541146.1:p.Pro1430Arg
XM_011542845.1:c.4025C>G	XP_011541147.1:p.Pro1342Arg
XM_011542846.1:c.5334C>G	XP_011541148.1:p.Thr1778=
XM_011542847.1:c.404C>G	XP_011541149.1:p.Pro135Arg
NM_001351834.1:c.5333C>G	NP_001338763.1:p.Pro1778Arg
XM_005271562.5:c.5333C>G	XP_005271619.2:p.Pro1778Arg
XM_006718843.4:c.5333C>G	XP_006718906.1:p.Pro1778Arg
XM_006718845.2:c.1289C>G	XP_006718908.1:p.Pro430Arg
XM_011542840.3:c.5333C>G	XP_011541142.1:p.Pro1778Arg
XM_011542842.3:c.5168C>G	XP_011541144.1:p.Pro1723Arg
XM_011542843.2:c.5333C>G	XP_011541145.1:p.Pro1778Arg
XM_011542844.3:c.4289C>G	XP_011541146.1:p.Pro1430Arg
XM_011542845.2:c.4025C>G	XP_011541147.1:p.Pro1342Arg
XM_017017789.2:c.5333C>G	XP_016873278.1:p.Pro1778Arg
XM_017017790.2:c.5333C>G	XP_016873279.1:p.Pro1778Arg
XM_017017791.1:c.5333C>G	XP_016873280.1:p.Pro1778Arg
XM_017017792.2:c.*14C>G	XP_016873281.1:n.*14C>G
XR_002957150.1:n.5933C>G
NM_001351834.2:c.5333C>G	NP_001338763.1:p.Pro1778Arg
NM_000051.4:c.5333C>G MANE Select	NP_000042.3:p.Pro1778Arg