Canonical Allele Identifier: CA228391034

Gene: ATM

Linked Data

• ClinVar Variation Id: 481333
• ClinVar RCV Id: RCV000575362 ; RCV000813284
• dbSNP Id: rs753808755
• gnomAD v4: 11-108250908-A-C
• MyVariant Identifiers: chr11:g.108121635A>C (hg19) ; chr11:g.108250908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250908A>C , CM000673.2:g.108250908A>C	GRCh38
NC_000011.9:g.108121635A>C , CM000673.1:g.108121635A>C	GRCh37
NC_000011.8:g.107626845A>C	NCBI36
NG_009830.1:g.33077A>C , LRG_135:g.33077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1443A>C	ENSP00000388058.2:p.Leu481Phe
ENST00000713593.1:c.*914A>C	ENSP00000518889.1:n.*914A>C
ENST00000278616.9:c.1443A>C	ENSP00000278616.4:p.Leu481Phe
ENST00000682516.1:n.1577A>C
ENST00000682956.1:n.1577A>C
ENST00000683174.1:n.1593A>C
ENST00000683605.1:n.938A>C
ENST00000684037.1:c.*378A>C	ENSP00000508245.1:n.*378A>C
ENST00000684061.1:n.1577A>C
ENST00000684179.1:n.1412A>C
ENST00000527805.6:c.1443A>C	ENSP00000435747.2:p.Leu481Phe
ENST00000675595.1:c.1278A>C	ENSP00000502563.1:p.Leu426Phe
ENST00000675843.1:c.1443A>C MANE Select	ENSP00000501606.1:p.Leu481Phe
ENST00000278616.8:c.1443A>C	ENSP00000278616.4:p.Leu481Phe
ENST00000452508.6:c.1443A>C	ENSP00000388058.2:p.Leu481Phe
ENST00000527805.5:c.1443A>C	ENSP00000435747.1:p.Leu481Phe
NM_000051.3:c.1443A>C , LRG_135t1:c.1443A>C	NP_000042.3:p.Leu481Phe
XM_005271561.3:c.1443A>C	XP_005271618.2:p.Leu481Phe
XM_005271562.3:c.1443A>C	XP_005271619.2:p.Leu481Phe
XM_006718843.2:c.1443A>C	XP_006718906.1:p.Leu481Phe
XM_011542840.1:c.1443A>C	XP_011541142.1:p.Leu481Phe
XM_011542841.1:c.1443A>C	XP_011541143.1:p.Leu481Phe
XM_011542842.1:c.1278A>C	XP_011541144.1:p.Leu426Phe
XM_011542843.1:c.1443A>C	XP_011541145.1:p.Leu481Phe
XM_011542844.1:c.399A>C	XP_011541146.1:p.Leu133Phe
XM_011542845.1:c.135A>C	XP_011541147.1:p.Leu45Phe
XM_011542846.1:c.1443A>C	XP_011541148.1:p.Leu481Phe
NM_001351834.1:c.1443A>C	NP_001338763.1:p.Leu481Phe
XM_005271562.5:c.1443A>C	XP_005271619.2:p.Leu481Phe
XM_006718843.4:c.1443A>C	XP_006718906.1:p.Leu481Phe
XM_011542840.3:c.1443A>C	XP_011541142.1:p.Leu481Phe
XM_011542842.3:c.1278A>C	XP_011541144.1:p.Leu426Phe
XM_011542843.2:c.1443A>C	XP_011541145.1:p.Leu481Phe
XM_011542844.3:c.399A>C	XP_011541146.1:p.Leu133Phe
XM_011542845.2:c.135A>C	XP_011541147.1:p.Leu45Phe
XM_017017789.2:c.1443A>C	XP_016873278.1:p.Leu481Phe
XM_017017790.2:c.1443A>C	XP_016873279.1:p.Leu481Phe
XM_017017791.1:c.1443A>C	XP_016873280.1:p.Leu481Phe
XM_017017792.2:c.1443A>C	XP_016873281.1:p.Leu481Phe
XR_002957150.1:n.2176A>C
NM_001351834.2:c.1443A>C	NP_001338763.1:p.Leu481Phe
NM_000051.4:c.1443A>C MANE Select	NP_000042.3:p.Leu481Phe