Canonical Allele Identifier: CA228391108

Gene: ATM

Linked Data

• ClinVar Variation Id: 481161
• ClinVar RCV Id: RCV000568251 ; RCV001865739 ; RCV003332200 ; RCV004024469
• dbSNP Id: rs865985297
• COSMIC: COSM214125
• MyVariant Identifiers: chr11:g.108121729C>T (hg19) ; chr11:g.108251002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251002C>T , CM000673.2:g.108251002C>T	GRCh38
NC_000011.9:g.108121729C>T , CM000673.1:g.108121729C>T	GRCh37
NC_000011.8:g.107626939C>T	NCBI36
NG_009830.1:g.33171C>T , LRG_135:g.33171C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1537C>T	ENSP00000388058.2:p.Gln513Ter
ENST00000713593.1:c.*1008C>T	ENSP00000518889.1:n.*1008C>T
ENST00000278616.9:c.1537C>T	ENSP00000278616.4:p.Gln513Ter
ENST00000682516.1:n.1671C>T
ENST00000682956.1:n.1671C>T
ENST00000683174.1:n.1687C>T
ENST00000683605.1:n.1032C>T
ENST00000684037.1:c.*472C>T	ENSP00000508245.1:n.*472C>T
ENST00000684061.1:n.1671C>T
ENST00000684179.1:n.1506C>T
ENST00000527805.6:c.1537C>T	ENSP00000435747.2:p.Gln513Ter
ENST00000675595.1:c.1372C>T	ENSP00000502563.1:p.Gln458Ter
ENST00000675843.1:c.1537C>T MANE Select	ENSP00000501606.1:p.Gln513Ter
ENST00000278616.8:c.1537C>T	ENSP00000278616.4:p.Gln513Ter
ENST00000452508.6:c.1537C>T	ENSP00000388058.2:p.Gln513Ter
ENST00000527805.5:c.1537C>T	ENSP00000435747.1:p.Gln513Ter
NM_000051.3:c.1537C>T , LRG_135t1:c.1537C>T	NP_000042.3:p.Gln513Ter
XM_005271561.3:c.1537C>T	XP_005271618.2:p.Gln513Ter
XM_005271562.3:c.1537C>T	XP_005271619.2:p.Gln513Ter
XM_006718843.2:c.1537C>T	XP_006718906.1:p.Gln513Ter
XM_011542840.1:c.1537C>T	XP_011541142.1:p.Gln513Ter
XM_011542841.1:c.1537C>T	XP_011541143.1:p.Gln513Ter
XM_011542842.1:c.1372C>T	XP_011541144.1:p.Gln458Ter
XM_011542843.1:c.1537C>T	XP_011541145.1:p.Gln513Ter
XM_011542844.1:c.493C>T	XP_011541146.1:p.Gln165Ter
XM_011542845.1:c.229C>T	XP_011541147.1:p.Gln77Ter
XM_011542846.1:c.1537C>T	XP_011541148.1:p.Gln513Ter
NM_001351834.1:c.1537C>T	NP_001338763.1:p.Gln513Ter
XM_005271562.5:c.1537C>T	XP_005271619.2:p.Gln513Ter
XM_006718843.4:c.1537C>T	XP_006718906.1:p.Gln513Ter
XM_011542840.3:c.1537C>T	XP_011541142.1:p.Gln513Ter
XM_011542842.3:c.1372C>T	XP_011541144.1:p.Gln458Ter
XM_011542843.2:c.1537C>T	XP_011541145.1:p.Gln513Ter
XM_011542844.3:c.493C>T	XP_011541146.1:p.Gln165Ter
XM_011542845.2:c.229C>T	XP_011541147.1:p.Gln77Ter
XM_017017789.2:c.1537C>T	XP_016873278.1:p.Gln513Ter
XM_017017790.2:c.1537C>T	XP_016873279.1:p.Gln513Ter
XM_017017791.1:c.1537C>T	XP_016873280.1:p.Gln513Ter
XM_017017792.2:c.1537C>T	XP_016873281.1:p.Gln513Ter
XR_002957150.1:n.2270C>T
NM_001351834.2:c.1537C>T	NP_001338763.1:p.Gln513Ter
NM_000051.4:c.1537C>T MANE Select	NP_000042.3:p.Gln513Ter