Canonical Allele Identifier: CA353200

Gene: ATM

Linked Data

• ClinVar Variation Id: 223473
• ClinVar RCV Id: RCV000209264
• dbSNP Id: rs869312481
• MyVariant Identifiers: chr11:g.108095048C>T (hg19) ; chr11:g.108224321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108224321C>T , CM000673.2:g.108224321C>T	GRCh38
NC_000011.9:g.108095048C>T , CM000673.1:g.108095048C>T	GRCh37
NC_000011.8:g.107600258C>T	NCBI36
NG_009830.1:g.6490C>T , LRG_135:g.6490C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.-118-463C>T	ENSP00000388058.2:n.-118-463C>T
ENST00000683914.2:c.-31+1135C>T	ENSP00000507649.1:n.-31+1135C>T
ENST00000713593.1:c.-31+1135C>T	ENSP00000518889.1:n.-31+1135C>T
ENST00000278616.9:c.-31+635C>T	ENSP00000278616.4:n.-31+635C>T
ENST00000682430.1:n.69+185C>T
ENST00000683150.1:c.-31+635C>T	ENSP00000507125.1:n.-31+635C>T
ENST00000683174.1:n.120+1135C>T
ENST00000683468.1:c.-3304C>T	ENSP00000508178.1:n.-3304C>T
ENST00000683488.1:n.1278C>T
ENST00000683914.1:c.-31+1135C>T	ENSP00000507649.1:n.-31+1135C>T
ENST00000527805.6:c.-31+1135C>T	ENSP00000435747.2:n.-31+1135C>T
ENST00000639240.1:c.-114-463C>T	ENSP00000491585.1:n.-114-463C>T
ENST00000639953.1:c.-202-463C>T	ENSP00000492487.1:n.-202-463C>T
ENST00000640388.1:c.-192-463C>T	ENSP00000492354.1:n.-192-463C>T
ENST00000675595.1:c.-31+1135C>T	ENSP00000502563.1:n.-31+1135C>T
ENST00000675843.1:c.-31+1135C>T MANE Select	ENSP00000501606.1:n.-31+1135C>T
ENST00000278616.8:c.-31+1135C>T	ENSP00000278616.4:n.-31+1135C>T
ENST00000452508.6:c.-118-463C>T	ENSP00000388058.2:n.-118-463C>T
ENST00000526567.5:c.-31+635C>T	ENSP00000480205.1:n.-31+635C>T
ENST00000527805.5:c.-31+1135C>T	ENSP00000435747.1:n.-31+1135C>T
ENST00000527891.5:c.-31+1135C>T	ENSP00000433955.1:n.-31+1135C>T
ENST00000530958.5:c.-3304C>T	ENSP00000483338.1:n.-3304C>T
ENST00000532931.5:c.-105+1135C>T	ENSP00000432318.1:n.-105+1135C>T
ENST00000601453.2:c.-119+185C>T	ENSP00000469471.1:n.-119+185C>T
NM_000051.3:c.-31+1135C>T , LRG_135t1:c.-31+1135C>T	NP_000042.3:n.-31+1135C>T
XM_005271561.3:c.-118-463C>T	XP_005271618.2:n.-118-463C>T
XM_005271562.3:c.-31+635C>T	XP_005271619.2:n.-31+635C>T
XM_006718843.2:c.-31+185C>T	XP_006718906.1:n.-31+185C>T
XM_011542840.1:c.-119+185C>T	XP_011541142.1:n.-119+185C>T
XM_011542841.1:c.-821-463C>T	XP_011541143.1:n.-821-463C>T
XM_011542842.1:c.-31+1135C>T	XP_011541144.1:n.-31+1135C>T
XM_011542843.1:c.-31+1135C>T	XP_011541145.1:n.-31+1135C>T
XM_011542846.1:c.-31+1135C>T	XP_011541148.1:n.-31+1135C>T
NM_001351834.1:c.-118-463C>T	NP_001338763.1:n.-118-463C>T
NM_001351835.1:c.-31+1135C>T	NP_001338764.1:n.-31+1135C>T
NM_001351836.1:c.-31+635C>T	NP_001338765.1:n.-31+635C>T
XM_005271562.5:c.-31+635C>T	XP_005271619.2:n.-31+635C>T
XM_006718843.4:c.-31+185C>T	XP_006718906.1:n.-31+185C>T
XM_011542840.3:c.-119+185C>T	XP_011541142.1:n.-119+185C>T
XM_011542842.3:c.-31+1135C>T	XP_011541144.1:n.-31+1135C>T
XM_011542843.2:c.-31+1135C>T	XP_011541145.1:n.-31+1135C>T
XM_011542844.3:c.-1053+1135C>T	XP_011541146.1:n.-1053+1135C>T
XM_017017789.2:c.-822+185C>T	XP_016873278.1:n.-822+185C>T
XM_017017790.2:c.-31+317C>T	XP_016873279.1:n.-31+317C>T
XM_017017791.1:c.-31+1135C>T	XP_016873280.1:n.-31+1135C>T
XM_017017792.2:c.-31+1135C>T	XP_016873281.1:n.-31+1135C>T
XR_002957150.1:n.703+1135C>T
NM_001351834.2:c.-118-463C>T	NP_001338763.1:n.-118-463C>T
NM_000051.4:c.-31+1135C>T MANE Select	NP_000042.3:n.-31+1135C>T
NM_001351835.2:c.-31+1135C>T	NP_001338764.1:n.-31+1135C>T
NM_001351836.2:c.-31+635C>T	NP_001338765.1:n.-31+635C>T