Canonical Allele Identifier: CA382541034

Gene: ATM

Linked Data

• ClinVar Variation Id: 821185
• ClinVar RCV Id: RCV001015350
• dbSNP Id: rs1060501651
• MyVariant Identifiers: chr11:g.108129719C>G (hg19) ; chr11:g.108258992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108258992C>G , CM000673.2:g.108258992C>G	GRCh38
NC_000011.9:g.108129719C>G , CM000673.1:g.108129719C>G	GRCh37
NC_000011.8:g.107634929C>G	NCBI36
NG_009830.1:g.41161C>G , LRG_135:g.41161C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2383C>G	ENSP00000388058.2:p.Pro795Ala
ENST00000713593.1:c.*1854C>G	ENSP00000518889.1:n.*1854C>G
ENST00000278616.9:c.2383C>G	ENSP00000278616.4:p.Pro795Ala
ENST00000682516.1:n.2517C>G
ENST00000683174.1:n.2533C>G
ENST00000683605.1:n.1878C>G
ENST00000684037.1:c.*1318C>G	ENSP00000508245.1:n.*1318C>G
ENST00000527805.6:c.2383C>G	ENSP00000435747.2:p.Pro795Ala
ENST00000675595.1:c.2218C>G	ENSP00000502563.1:p.Pro740Ala
ENST00000675843.1:c.2383C>G MANE Select	ENSP00000501606.1:p.Pro795Ala
ENST00000278616.8:c.2383C>G	ENSP00000278616.4:p.Pro795Ala
ENST00000452508.6:c.2383C>G	ENSP00000388058.2:p.Pro795Ala
ENST00000527805.5:c.2383C>G	ENSP00000435747.1:p.Pro795Ala
NM_000051.3:c.2383C>G , LRG_135t1:c.2383C>G	NP_000042.3:p.Pro795Ala
XM_005271561.3:c.2383C>G	XP_005271618.2:p.Pro795Ala
XM_005271562.3:c.2383C>G	XP_005271619.2:p.Pro795Ala
XM_006718843.2:c.2383C>G	XP_006718906.1:p.Pro795Ala
XM_011542840.1:c.2383C>G	XP_011541142.1:p.Pro795Ala
XM_011542841.1:c.2383C>G	XP_011541143.1:p.Pro795Ala
XM_011542842.1:c.2218C>G	XP_011541144.1:p.Pro740Ala
XM_011542843.1:c.2383C>G	XP_011541145.1:p.Pro795Ala
XM_011542844.1:c.1339C>G	XP_011541146.1:p.Pro447Ala
XM_011542845.1:c.1075C>G	XP_011541147.1:p.Pro359Ala
XM_011542846.1:c.2383C>G	XP_011541148.1:p.Pro795Ala
NM_001351834.1:c.2383C>G	NP_001338763.1:p.Pro795Ala
XM_005271562.5:c.2383C>G	XP_005271619.2:p.Pro795Ala
XM_006718843.4:c.2383C>G	XP_006718906.1:p.Pro795Ala
XM_011542840.3:c.2383C>G	XP_011541142.1:p.Pro795Ala
XM_011542842.3:c.2218C>G	XP_011541144.1:p.Pro740Ala
XM_011542843.2:c.2383C>G	XP_011541145.1:p.Pro795Ala
XM_011542844.3:c.1339C>G	XP_011541146.1:p.Pro447Ala
XM_011542845.2:c.1075C>G	XP_011541147.1:p.Pro359Ala
XM_017017789.2:c.2383C>G	XP_016873278.1:p.Pro795Ala
XM_017017790.2:c.2383C>G	XP_016873279.1:p.Pro795Ala
XM_017017791.1:c.2383C>G	XP_016873280.1:p.Pro795Ala
XM_017017792.2:c.2383C>G	XP_016873281.1:p.Pro795Ala
XR_002957150.1:n.3116C>G
NM_001351834.2:c.2383C>G	NP_001338763.1:p.Pro795Ala
NM_000051.4:c.2383C>G MANE Select	NP_000042.3:p.Pro795Ala