Canonical Allele Identifier: CA382534562

Gene: ATM

Linked Data

• ClinVar Variation Id: 627870
• ClinVar RCV Id: RCV000771752 ; RCV001306080
• dbSNP Id: rs1034235291
• gnomAD v4: 11-108293313-G-C
• MyVariant Identifiers: chr11:g.108164040G>C (hg19) ; chr11:g.108293313G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108293313G>C , CM000673.2:g.108293313G>C	GRCh38
NC_000011.9:g.108164040G>C , CM000673.1:g.108164040G>C	GRCh37
NC_000011.8:g.107669250G>C	NCBI36
NG_009830.1:g.75482G>C , LRG_135:g.75482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4612G>C	ENSP00000388058.2:p.Val1538Leu
ENST00000713593.1:c.*4083G>C	ENSP00000518889.1:n.*4083G>C
ENST00000278616.9:c.4612G>C	ENSP00000278616.4:p.Val1538Leu
ENST00000683174.1:n.4762G>C
ENST00000527805.6:c.4611+520G>C	ENSP00000435747.2:n.4611+520G>C
ENST00000675595.1:c.4447G>C	ENSP00000502563.1:p.Val1483Leu
ENST00000675843.1:c.4612G>C MANE Select	ENSP00000501606.1:p.Val1538Leu
ENST00000278616.8:c.4612G>C	ENSP00000278616.4:p.Val1538Leu
ENST00000452508.6:c.4612G>C	ENSP00000388058.2:p.Val1538Leu
ENST00000524792.5:n.827G>C
ENST00000531525.2:c.444-1614G>C	ENSP00000434327.2:n.444-1614G>C
NM_000051.3:c.4612G>C , LRG_135t1:c.4612G>C	NP_000042.3:p.Val1538Leu
XM_005271561.3:c.4612G>C	XP_005271618.2:p.Val1538Leu
XM_005271562.3:c.4612G>C	XP_005271619.2:p.Val1538Leu
XM_006718843.2:c.4612G>C	XP_006718906.1:p.Val1538Leu
XM_006718845.1:c.568G>C	XP_006718908.1:p.Val190Leu
XM_011542840.1:c.4612G>C	XP_011541142.1:p.Val1538Leu
XM_011542841.1:c.4612G>C	XP_011541143.1:p.Val1538Leu
XM_011542842.1:c.4447G>C	XP_011541144.1:p.Val1483Leu
XM_011542843.1:c.4612G>C	XP_011541145.1:p.Val1538Leu
XM_011542844.1:c.3568G>C	XP_011541146.1:p.Val1190Leu
XM_011542845.1:c.3304G>C	XP_011541147.1:p.Val1102Leu
XM_011542846.1:c.4612G>C	XP_011541148.1:p.Val1538Leu
NM_001351834.1:c.4612G>C	NP_001338763.1:p.Val1538Leu
XM_005271562.5:c.4612G>C	XP_005271619.2:p.Val1538Leu
XM_006718843.4:c.4612G>C	XP_006718906.1:p.Val1538Leu
XM_006718845.2:c.568G>C	XP_006718908.1:p.Val190Leu
XM_011542840.3:c.4612G>C	XP_011541142.1:p.Val1538Leu
XM_011542842.3:c.4447G>C	XP_011541144.1:p.Val1483Leu
XM_011542843.2:c.4612G>C	XP_011541145.1:p.Val1538Leu
XM_011542844.3:c.3568G>C	XP_011541146.1:p.Val1190Leu
XM_011542845.2:c.3304G>C	XP_011541147.1:p.Val1102Leu
XM_017017789.2:c.4612G>C	XP_016873278.1:p.Val1538Leu
XM_017017790.2:c.4612G>C	XP_016873279.1:p.Val1538Leu
XM_017017791.1:c.4612G>C	XP_016873280.1:p.Val1538Leu
XM_017017792.2:c.4612G>C	XP_016873281.1:p.Val1538Leu
XR_002957150.1:n.5345G>C
NM_001351834.2:c.4612G>C	NP_001338763.1:p.Val1538Leu
NM_000051.4:c.4612G>C MANE Select	NP_000042.3:p.Val1538Leu