Canonical Allele Identifier: CA10588488

Gene: ATM

Linked Data

• ClinVar Variation Id: 265611
• ClinVar RCV Id: RCV000255049 ; RCV000572239 ; RCV000628178 ; RCV003128156 ; RCV003463721
• dbSNP Id: rs886039666
• gnomAD v4: 11-108244057-C-T
• MyVariant Identifiers: chr11:g.108114784C>T (hg19) ; chr11:g.108244057C>T (hg38)
• PubMed: PMID:10817650 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244057C>T , CM000673.2:g.108244057C>T	GRCh38
NC_000011.9:g.108114784C>T , CM000673.1:g.108114784C>T	GRCh37
NC_000011.8:g.107619994C>T	NCBI36
NG_009830.1:g.26226C>T , LRG_135:g.26226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.601C>T	ENSP00000388058.2:p.Gln201Ter
ENST00000713593.1:c.*72C>T	ENSP00000518889.1:n.*72C>T
ENST00000278616.9:c.601C>T	ENSP00000278616.4:p.Gln201Ter
ENST00000682430.1:n.700C>T
ENST00000682516.1:n.735C>T
ENST00000682956.1:n.735C>T
ENST00000683100.1:n.2279C>T
ENST00000683174.1:n.751C>T
ENST00000683605.1:n.96C>T
ENST00000684037.1:c.601C>T	ENSP00000508245.1:p.Gln201Ter
ENST00000684061.1:n.735C>T
ENST00000684179.1:n.570C>T
ENST00000527805.6:c.601C>T	ENSP00000435747.2:p.Gln201Ter
ENST00000675595.1:c.436C>T	ENSP00000502563.1:p.Gln146Ter
ENST00000675843.1:c.601C>T MANE Select	ENSP00000501606.1:p.Gln201Ter
ENST00000278616.8:c.601C>T	ENSP00000278616.4:p.Gln201Ter
ENST00000452508.6:c.601C>T	ENSP00000388058.2:p.Gln201Ter
ENST00000527805.5:c.601C>T	ENSP00000435747.1:p.Gln201Ter
ENST00000527891.5:c.436C>T	ENSP00000433955.1:p.Gln146Ter
NM_000051.3:c.601C>T , LRG_135t1:c.601C>T	NP_000042.3:p.Gln201Ter
XM_005271561.3:c.601C>T	XP_005271618.2:p.Gln201Ter
XM_005271562.3:c.601C>T	XP_005271619.2:p.Gln201Ter
XM_006718843.2:c.601C>T	XP_006718906.1:p.Gln201Ter
XM_011542840.1:c.601C>T	XP_011541142.1:p.Gln201Ter
XM_011542841.1:c.601C>T	XP_011541143.1:p.Gln201Ter
XM_011542842.1:c.436C>T	XP_011541144.1:p.Gln146Ter
XM_011542843.1:c.601C>T	XP_011541145.1:p.Gln201Ter
XM_011542844.1:c.-444C>T	XP_011541146.1:n.-444C>T
XM_011542846.1:c.601C>T	XP_011541148.1:p.Gln201Ter
NM_001351834.1:c.601C>T	NP_001338763.1:p.Gln201Ter
XM_005271562.5:c.601C>T	XP_005271619.2:p.Gln201Ter
XM_006718843.4:c.601C>T	XP_006718906.1:p.Gln201Ter
XM_011542840.3:c.601C>T	XP_011541142.1:p.Gln201Ter
XM_011542842.3:c.436C>T	XP_011541144.1:p.Gln146Ter
XM_011542843.2:c.601C>T	XP_011541145.1:p.Gln201Ter
XM_011542844.3:c.-444C>T	XP_011541146.1:n.-444C>T
XM_017017789.2:c.601C>T	XP_016873278.1:p.Gln201Ter
XM_017017790.2:c.601C>T	XP_016873279.1:p.Gln201Ter
XM_017017791.1:c.601C>T	XP_016873280.1:p.Gln201Ter
XM_017017792.2:c.601C>T	XP_016873281.1:p.Gln201Ter
XR_002957150.1:n.1334C>T
NM_001351834.2:c.601C>T	NP_001338763.1:p.Gln201Ter
NM_000051.4:c.601C>T MANE Select	NP_000042.3:p.Gln201Ter