Canonical Allele Identifier: CA382543291

Gene: ATM

Linked Data

• dbSNP Id: rs2135927822
• MyVariant Identifiers: chr11:g.108173616T>C (hg19) ; chr11:g.108302889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302889T>C , CM000673.2:g.108302889T>C	GRCh38
NC_000011.9:g.108173616T>C , CM000673.1:g.108173616T>C	GRCh37
NC_000011.8:g.107678826T>C	NCBI36
NG_009830.1:g.85058T>C , LRG_135:g.85058T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5356T>C	ENSP00000388058.2:p.Phe1786Leu
ENST00000713593.1:c.*4827T>C	ENSP00000518889.1:n.*4827T>C
ENST00000278616.9:c.5356T>C	ENSP00000278616.4:p.Phe1786Leu
ENST00000683174.1:n.6840T>C
ENST00000683524.1:n.580T>C
ENST00000684152.1:n.1070T>C
ENST00000527805.6:c.*420T>C	ENSP00000435747.2:n.*420T>C
ENST00000675595.1:c.*420T>C	ENSP00000502563.1:n.*420T>C
ENST00000675843.1:c.5356T>C MANE Select	ENSP00000501606.1:p.Phe1786Leu
ENST00000278616.8:c.5356T>C	ENSP00000278616.4:p.Phe1786Leu
ENST00000452508.6:c.5356T>C	ENSP00000388058.2:p.Phe1786Leu
ENST00000524792.5:n.1571T>C
ENST00000533690.5:n.760T>C
ENST00000534625.1:n.585T>C
NM_000051.3:c.5356T>C , LRG_135t1:c.5356T>C	NP_000042.3:p.Phe1786Leu
XM_005271561.3:c.5356T>C	XP_005271618.2:p.Phe1786Leu
XM_005271562.3:c.5356T>C	XP_005271619.2:p.Phe1786Leu
XM_006718843.2:c.5356T>C	XP_006718906.1:p.Phe1786Leu
XM_006718845.1:c.1312T>C	XP_006718908.1:p.Phe438Leu
XM_011542840.1:c.5356T>C	XP_011541142.1:p.Phe1786Leu
XM_011542841.1:c.5356T>C	XP_011541143.1:p.Phe1786Leu
XM_011542842.1:c.5191T>C	XP_011541144.1:p.Phe1731Leu
XM_011542843.1:c.5356T>C	XP_011541145.1:p.Phe1786Leu
XM_011542844.1:c.4312T>C	XP_011541146.1:p.Phe1438Leu
XM_011542845.1:c.4048T>C	XP_011541147.1:p.Phe1350Leu
XM_011542846.1:c.*14T>C	XP_011541148.1:n.*14T>C
XM_011542847.1:c.427T>C	XP_011541149.1:p.Phe143Leu
NM_001351834.1:c.5356T>C	NP_001338763.1:p.Phe1786Leu
XM_005271562.5:c.5356T>C	XP_005271619.2:p.Phe1786Leu
XM_006718843.4:c.5356T>C	XP_006718906.1:p.Phe1786Leu
XM_006718845.2:c.1312T>C	XP_006718908.1:p.Phe438Leu
XM_011542840.3:c.5356T>C	XP_011541142.1:p.Phe1786Leu
XM_011542842.3:c.5191T>C	XP_011541144.1:p.Phe1731Leu
XM_011542843.2:c.5356T>C	XP_011541145.1:p.Phe1786Leu
XM_011542844.3:c.4312T>C	XP_011541146.1:p.Phe1438Leu
XM_011542845.2:c.4048T>C	XP_011541147.1:p.Phe1350Leu
XM_017017789.2:c.5356T>C	XP_016873278.1:p.Phe1786Leu
XM_017017790.2:c.5356T>C	XP_016873279.1:p.Phe1786Leu
XM_017017791.1:c.5356T>C	XP_016873280.1:p.Phe1786Leu
XM_017017792.2:c.*37T>C	XP_016873281.1:n.*37T>C
XR_002957150.1:n.5956T>C
NM_001351834.2:c.5356T>C	NP_001338763.1:p.Phe1786Leu
NM_000051.4:c.5356T>C MANE Select	NP_000042.3:p.Phe1786Leu