Canonical Allele Identifier: CA382546133

Gene: ATM

Linked Data

• ClinVar Variation Id: 1062781
• ClinVar RCV Id: RCV001372537
• dbSNP Id: rs1314298685
• MyVariant Identifiers: chr11:g.108175486C>A (hg19) ; chr11:g.108304759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304759C>A , CM000673.2:g.108304759C>A	GRCh38
NC_000011.9:g.108175486C>A , CM000673.1:g.108175486C>A	GRCh37
NC_000011.8:g.107680696C>A	NCBI36
NG_009830.1:g.86928C>A , LRG_135:g.86928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5581C>A	ENSP00000388058.2:p.Leu1861Met
ENST00000713593.1:c.*5052C>A	ENSP00000518889.1:n.*5052C>A
ENST00000278616.9:c.5581C>A	ENSP00000278616.4:p.Leu1861Met
ENST00000683174.1:n.7065C>A
ENST00000683524.1:n.805C>A
ENST00000684152.1:n.1295C>A
ENST00000527805.6:c.*645C>A	ENSP00000435747.2:n.*645C>A
ENST00000675595.1:c.*645C>A	ENSP00000502563.1:n.*645C>A
ENST00000675843.1:c.5581C>A MANE Select	ENSP00000501606.1:p.Leu1861Met
ENST00000278616.8:c.5581C>A	ENSP00000278616.4:p.Leu1861Met
ENST00000452508.6:c.5581C>A	ENSP00000388058.2:p.Leu1861Met
ENST00000524792.5:n.1796C>A
ENST00000529588.5:c.93C>A
ENST00000533690.5:n.985C>A
NM_000051.3:c.5581C>A , LRG_135t1:c.5581C>A	NP_000042.3:p.Leu1861Met
XM_005271561.3:c.5581C>A	XP_005271618.2:p.Leu1861Met
XM_005271562.3:c.5581C>A	XP_005271619.2:p.Leu1861Met
XM_006718843.2:c.5581C>A	XP_006718906.1:p.Leu1861Met
XM_006718845.1:c.1537C>A	XP_006718908.1:p.Leu513Met
XM_011542840.1:c.5581C>A	XP_011541142.1:p.Leu1861Met
XM_011542841.1:c.5581C>A	XP_011541143.1:p.Leu1861Met
XM_011542842.1:c.5416C>A	XP_011541144.1:p.Leu1806Met
XM_011542843.1:c.5581C>A	XP_011541145.1:p.Leu1861Met
XM_011542844.1:c.4537C>A	XP_011541146.1:p.Leu1513Met
XM_011542845.1:c.4273C>A	XP_011541147.1:p.Leu1425Met
XM_011542847.1:c.652C>A	XP_011541149.1:p.Leu218Met
NM_001351834.1:c.5581C>A	NP_001338763.1:p.Leu1861Met
XM_005271562.5:c.5581C>A	XP_005271619.2:p.Leu1861Met
XM_006718843.4:c.5581C>A	XP_006718906.1:p.Leu1861Met
XM_006718845.2:c.1537C>A	XP_006718908.1:p.Leu513Met
XM_011542840.3:c.5581C>A	XP_011541142.1:p.Leu1861Met
XM_011542842.3:c.5416C>A	XP_011541144.1:p.Leu1806Met
XM_011542843.2:c.5581C>A	XP_011541145.1:p.Leu1861Met
XM_011542844.3:c.4537C>A	XP_011541146.1:p.Leu1513Met
XM_011542845.2:c.4273C>A	XP_011541147.1:p.Leu1425Met
XM_017017789.2:c.5581C>A	XP_016873278.1:p.Leu1861Met
XM_017017790.2:c.5581C>A	XP_016873279.1:p.Leu1861Met
XM_017017791.1:c.5581C>A	XP_016873280.1:p.Leu1861Met
XR_002957150.1:n.6181C>A
NM_001351834.2:c.5581C>A	NP_001338763.1:p.Leu1861Met
NM_000051.4:c.5581C>A MANE Select	NP_000042.3:p.Leu1861Met