Canonical Allele Identifier: CA16613376

Gene: ATM

Linked Data

• ClinVar Variation Id: 407569
• ClinVar RCV Id: RCV000467984 ; RCV002289609 ; RCV001024226
• dbSNP Id: rs1060501607
• MyVariant Identifiers: chr11:g.108175432C>G (hg19) ; chr11:g.108304705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304705C>G , CM000673.2:g.108304705C>G	GRCh38
NC_000011.9:g.108175432C>G , CM000673.1:g.108175432C>G	GRCh37
NC_000011.8:g.107680642C>G	NCBI36
NG_009830.1:g.86874C>G , LRG_135:g.86874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5527C>G	ENSP00000388058.2:p.Pro1843Ala
ENST00000713593.1:c.*4998C>G	ENSP00000518889.1:n.*4998C>G
ENST00000278616.9:c.5527C>G	ENSP00000278616.4:p.Pro1843Ala
ENST00000683174.1:n.7011C>G
ENST00000683524.1:n.751C>G
ENST00000684152.1:n.1241C>G
ENST00000527805.6:c.*591C>G	ENSP00000435747.2:n.*591C>G
ENST00000675595.1:c.*591C>G	ENSP00000502563.1:n.*591C>G
ENST00000675843.1:c.5527C>G MANE Select	ENSP00000501606.1:p.Pro1843Ala
ENST00000278616.8:c.5527C>G	ENSP00000278616.4:p.Pro1843Ala
ENST00000452508.6:c.5527C>G	ENSP00000388058.2:p.Pro1843Ala
ENST00000524792.5:n.1742C>G
ENST00000529588.5:c.39C>G
ENST00000533690.5:n.931C>G
NM_000051.3:c.5527C>G , LRG_135t1:c.5527C>G	NP_000042.3:p.Pro1843Ala
XM_005271561.3:c.5527C>G	XP_005271618.2:p.Pro1843Ala
XM_005271562.3:c.5527C>G	XP_005271619.2:p.Pro1843Ala
XM_006718843.2:c.5527C>G	XP_006718906.1:p.Pro1843Ala
XM_006718845.1:c.1483C>G	XP_006718908.1:p.Pro495Ala
XM_011542840.1:c.5527C>G	XP_011541142.1:p.Pro1843Ala
XM_011542841.1:c.5527C>G	XP_011541143.1:p.Pro1843Ala
XM_011542842.1:c.5362C>G	XP_011541144.1:p.Pro1788Ala
XM_011542843.1:c.5527C>G	XP_011541145.1:p.Pro1843Ala
XM_011542844.1:c.4483C>G	XP_011541146.1:p.Pro1495Ala
XM_011542845.1:c.4219C>G	XP_011541147.1:p.Pro1407Ala
XM_011542847.1:c.598C>G	XP_011541149.1:p.Pro200Ala
NM_001351834.1:c.5527C>G	NP_001338763.1:p.Pro1843Ala
XM_005271562.5:c.5527C>G	XP_005271619.2:p.Pro1843Ala
XM_006718843.4:c.5527C>G	XP_006718906.1:p.Pro1843Ala
XM_006718845.2:c.1483C>G	XP_006718908.1:p.Pro495Ala
XM_011542840.3:c.5527C>G	XP_011541142.1:p.Pro1843Ala
XM_011542842.3:c.5362C>G	XP_011541144.1:p.Pro1788Ala
XM_011542843.2:c.5527C>G	XP_011541145.1:p.Pro1843Ala
XM_011542844.3:c.4483C>G	XP_011541146.1:p.Pro1495Ala
XM_011542845.2:c.4219C>G	XP_011541147.1:p.Pro1407Ala
XM_017017789.2:c.5527C>G	XP_016873278.1:p.Pro1843Ala
XM_017017790.2:c.5527C>G	XP_016873279.1:p.Pro1843Ala
XM_017017791.1:c.5527C>G	XP_016873280.1:p.Pro1843Ala
XR_002957150.1:n.6127C>G
NM_001351834.2:c.5527C>G	NP_001338763.1:p.Pro1843Ala
NM_000051.4:c.5527C>G MANE Select	NP_000042.3:p.Pro1843Ala