Canonical Allele Identifier: CA382545984

Gene: ATM

Linked Data

• ClinVar Variation Id: 2761037
• ClinVar RCV Id: RCV003500234
• MyVariant Identifiers: chr11:g.108175455A>C (hg19) ; chr11:g.108304728A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304728A>C , CM000673.2:g.108304728A>C	GRCh38
NC_000011.9:g.108175455A>C , CM000673.1:g.108175455A>C	GRCh37
NC_000011.8:g.107680665A>C	NCBI36
NG_009830.1:g.86897A>C , LRG_135:g.86897A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5550A>C	ENSP00000388058.2:p.Leu1850Phe
ENST00000713593.1:c.*5021A>C	ENSP00000518889.1:n.*5021A>C
ENST00000278616.9:c.5550A>C	ENSP00000278616.4:p.Leu1850Phe
ENST00000683174.1:n.7034A>C
ENST00000683524.1:n.774A>C
ENST00000684152.1:n.1264A>C
ENST00000527805.6:c.*614A>C	ENSP00000435747.2:n.*614A>C
ENST00000675595.1:c.*614A>C	ENSP00000502563.1:n.*614A>C
ENST00000675843.1:c.5550A>C MANE Select	ENSP00000501606.1:p.Leu1850Phe
ENST00000278616.8:c.5550A>C	ENSP00000278616.4:p.Leu1850Phe
ENST00000452508.6:c.5550A>C	ENSP00000388058.2:p.Leu1850Phe
ENST00000524792.5:n.1765A>C
ENST00000529588.5:c.62A>C
ENST00000533690.5:n.954A>C
NM_000051.3:c.5550A>C , LRG_135t1:c.5550A>C	NP_000042.3:p.Leu1850Phe
XM_005271561.3:c.5550A>C	XP_005271618.2:p.Leu1850Phe
XM_005271562.3:c.5550A>C	XP_005271619.2:p.Leu1850Phe
XM_006718843.2:c.5550A>C	XP_006718906.1:p.Leu1850Phe
XM_006718845.1:c.1506A>C	XP_006718908.1:p.Leu502Phe
XM_011542840.1:c.5550A>C	XP_011541142.1:p.Leu1850Phe
XM_011542841.1:c.5550A>C	XP_011541143.1:p.Leu1850Phe
XM_011542842.1:c.5385A>C	XP_011541144.1:p.Leu1795Phe
XM_011542843.1:c.5550A>C	XP_011541145.1:p.Leu1850Phe
XM_011542844.1:c.4506A>C	XP_011541146.1:p.Leu1502Phe
XM_011542845.1:c.4242A>C	XP_011541147.1:p.Leu1414Phe
XM_011542847.1:c.621A>C	XP_011541149.1:p.Leu207Phe
NM_001351834.1:c.5550A>C	NP_001338763.1:p.Leu1850Phe
XM_005271562.5:c.5550A>C	XP_005271619.2:p.Leu1850Phe
XM_006718843.4:c.5550A>C	XP_006718906.1:p.Leu1850Phe
XM_006718845.2:c.1506A>C	XP_006718908.1:p.Leu502Phe
XM_011542840.3:c.5550A>C	XP_011541142.1:p.Leu1850Phe
XM_011542842.3:c.5385A>C	XP_011541144.1:p.Leu1795Phe
XM_011542843.2:c.5550A>C	XP_011541145.1:p.Leu1850Phe
XM_011542844.3:c.4506A>C	XP_011541146.1:p.Leu1502Phe
XM_011542845.2:c.4242A>C	XP_011541147.1:p.Leu1414Phe
XM_017017789.2:c.5550A>C	XP_016873278.1:p.Leu1850Phe
XM_017017790.2:c.5550A>C	XP_016873279.1:p.Leu1850Phe
XM_017017791.1:c.5550A>C	XP_016873280.1:p.Leu1850Phe
XR_002957150.1:n.6150A>C
NM_001351834.2:c.5550A>C	NP_001338763.1:p.Leu1850Phe
NM_000051.4:c.5550A>C MANE Select	NP_000042.3:p.Leu1850Phe