Canonical Allele Identifier: CA382543616

Gene: ATM

Linked Data

• dbSNP Id: rs748358106
• MyVariant Identifiers: chr11:g.108173649C>T (hg19) ; chr11:g.108302922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302922C>T , CM000673.2:g.108302922C>T	GRCh38
NC_000011.9:g.108173649C>T , CM000673.1:g.108173649C>T	GRCh37
NC_000011.8:g.107678859C>T	NCBI36
NG_009830.1:g.85091C>T , LRG_135:g.85091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5389C>T	ENSP00000388058.2:p.Pro1797Ser
ENST00000713593.1:c.*4860C>T	ENSP00000518889.1:n.*4860C>T
ENST00000278616.9:c.5389C>T	ENSP00000278616.4:p.Pro1797Ser
ENST00000683174.1:n.6873C>T
ENST00000683524.1:n.613C>T
ENST00000684152.1:n.1103C>T
ENST00000527805.6:c.*453C>T	ENSP00000435747.2:n.*453C>T
ENST00000675595.1:c.*453C>T	ENSP00000502563.1:n.*453C>T
ENST00000675843.1:c.5389C>T MANE Select	ENSP00000501606.1:p.Pro1797Ser
ENST00000278616.8:c.5389C>T	ENSP00000278616.4:p.Pro1797Ser
ENST00000452508.6:c.5389C>T	ENSP00000388058.2:p.Pro1797Ser
ENST00000524792.5:n.1604C>T
ENST00000533690.5:n.793C>T
ENST00000534625.1:n.618C>T
NM_000051.3:c.5389C>T , LRG_135t1:c.5389C>T	NP_000042.3:p.Pro1797Ser
XM_005271561.3:c.5389C>T	XP_005271618.2:p.Pro1797Ser
XM_005271562.3:c.5389C>T	XP_005271619.2:p.Pro1797Ser
XM_006718843.2:c.5389C>T	XP_006718906.1:p.Pro1797Ser
XM_006718845.1:c.1345C>T	XP_006718908.1:p.Pro449Ser
XM_011542840.1:c.5389C>T	XP_011541142.1:p.Pro1797Ser
XM_011542841.1:c.5389C>T	XP_011541143.1:p.Pro1797Ser
XM_011542842.1:c.5224C>T	XP_011541144.1:p.Pro1742Ser
XM_011542843.1:c.5389C>T	XP_011541145.1:p.Pro1797Ser
XM_011542844.1:c.4345C>T	XP_011541146.1:p.Pro1449Ser
XM_011542845.1:c.4081C>T	XP_011541147.1:p.Pro1361Ser
XM_011542846.1:c.*47C>T	XP_011541148.1:n.*47C>T
XM_011542847.1:c.460C>T	XP_011541149.1:p.Pro154Ser
NM_001351834.1:c.5389C>T	NP_001338763.1:p.Pro1797Ser
XM_005271562.5:c.5389C>T	XP_005271619.2:p.Pro1797Ser
XM_006718843.4:c.5389C>T	XP_006718906.1:p.Pro1797Ser
XM_006718845.2:c.1345C>T	XP_006718908.1:p.Pro449Ser
XM_011542840.3:c.5389C>T	XP_011541142.1:p.Pro1797Ser
XM_011542842.3:c.5224C>T	XP_011541144.1:p.Pro1742Ser
XM_011542843.2:c.5389C>T	XP_011541145.1:p.Pro1797Ser
XM_011542844.3:c.4345C>T	XP_011541146.1:p.Pro1449Ser
XM_011542845.2:c.4081C>T	XP_011541147.1:p.Pro1361Ser
XM_017017789.2:c.5389C>T	XP_016873278.1:p.Pro1797Ser
XM_017017790.2:c.5389C>T	XP_016873279.1:p.Pro1797Ser
XM_017017791.1:c.5389C>T	XP_016873280.1:p.Pro1797Ser
XM_017017792.2:c.*70C>T	XP_016873281.1:n.*70C>T
XR_002957150.1:n.5989C>T
NM_001351834.2:c.5389C>T	NP_001338763.1:p.Pro1797Ser
NM_000051.4:c.5389C>T MANE Select	NP_000042.3:p.Pro1797Ser