Canonical Allele Identifier: CA382546209

Gene: ATM

Linked Data

• ClinVar Variation Id: 922501
• ClinVar RCV Id: RCV001182613
• dbSNP Id: rs1468995507
• MyVariant Identifiers: chr11:g.108175501G>T (hg19) ; chr11:g.108304774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304774G>T , CM000673.2:g.108304774G>T	GRCh38
NC_000011.9:g.108175501G>T , CM000673.1:g.108175501G>T	GRCh37
NC_000011.8:g.107680711G>T	NCBI36
NG_009830.1:g.86943G>T , LRG_135:g.86943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5596G>T	ENSP00000388058.2:p.Val1866Phe
ENST00000713593.1:c.*5067G>T	ENSP00000518889.1:n.*5067G>T
ENST00000278616.9:c.5596G>T	ENSP00000278616.4:p.Val1866Phe
ENST00000683174.1:n.7080G>T
ENST00000683524.1:n.820G>T
ENST00000684152.1:n.1310G>T
ENST00000527805.6:c.*660G>T	ENSP00000435747.2:n.*660G>T
ENST00000675595.1:c.*660G>T	ENSP00000502563.1:n.*660G>T
ENST00000675843.1:c.5596G>T MANE Select	ENSP00000501606.1:p.Val1866Phe
ENST00000278616.8:c.5596G>T	ENSP00000278616.4:p.Val1866Phe
ENST00000452508.6:c.5596G>T	ENSP00000388058.2:p.Val1866Phe
ENST00000524792.5:n.1811G>T
ENST00000529588.5:c.108G>T
ENST00000533690.5:n.1000G>T
NM_000051.3:c.5596G>T , LRG_135t1:c.5596G>T	NP_000042.3:p.Val1866Phe
XM_005271561.3:c.5596G>T	XP_005271618.2:p.Val1866Phe
XM_005271562.3:c.5596G>T	XP_005271619.2:p.Val1866Phe
XM_006718843.2:c.5596G>T	XP_006718906.1:p.Val1866Phe
XM_006718845.1:c.1552G>T	XP_006718908.1:p.Val518Phe
XM_011542840.1:c.5596G>T	XP_011541142.1:p.Val1866Phe
XM_011542841.1:c.5596G>T	XP_011541143.1:p.Val1866Phe
XM_011542842.1:c.5431G>T	XP_011541144.1:p.Val1811Phe
XM_011542843.1:c.5596G>T	XP_011541145.1:p.Val1866Phe
XM_011542844.1:c.4552G>T	XP_011541146.1:p.Val1518Phe
XM_011542845.1:c.4288G>T	XP_011541147.1:p.Val1430Phe
XM_011542847.1:c.667G>T	XP_011541149.1:p.Val223Phe
NM_001351834.1:c.5596G>T	NP_001338763.1:p.Val1866Phe
XM_005271562.5:c.5596G>T	XP_005271619.2:p.Val1866Phe
XM_006718843.4:c.5596G>T	XP_006718906.1:p.Val1866Phe
XM_006718845.2:c.1552G>T	XP_006718908.1:p.Val518Phe
XM_011542840.3:c.5596G>T	XP_011541142.1:p.Val1866Phe
XM_011542842.3:c.5431G>T	XP_011541144.1:p.Val1811Phe
XM_011542843.2:c.5596G>T	XP_011541145.1:p.Val1866Phe
XM_011542844.3:c.4552G>T	XP_011541146.1:p.Val1518Phe
XM_011542845.2:c.4288G>T	XP_011541147.1:p.Val1430Phe
XM_017017789.2:c.5596G>T	XP_016873278.1:p.Val1866Phe
XM_017017790.2:c.5596G>T	XP_016873279.1:p.Val1866Phe
XM_017017791.1:c.5596G>T	XP_016873280.1:p.Val1866Phe
XR_002957150.1:n.6196G>T
NM_001351834.2:c.5596G>T	NP_001338763.1:p.Val1866Phe
NM_000051.4:c.5596G>T MANE Select	NP_000042.3:p.Val1866Phe