Canonical Allele Identifier: CA382561196

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs755009196
• gnomAD v4: 11-108332024-C-A
• MyVariant Identifiers: chr11:g.108202751C>A (hg19) ; chr11:g.108332024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332024C>A , CM000673.2:g.108332024C>A	GRCh38
NC_000011.9:g.108202751C>A , CM000673.1:g.108202751C>A	GRCh37
NC_000011.8:g.107707961C>A	NCBI36
NG_009830.1:g.114193C>A , LRG_135:g.114193C>A
NG_054724.1:g.142809G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7775C>A (ATM)	ENSP00000388058.2:p.Ser2592Tyr
ENST00000713593.1:c.*7246C>A (ATM)	ENSP00000518889.1:n.*7246C>A
ENST00000278616.9:c.7775C>A (ATM)	ENSP00000278616.4:p.Ser2592Tyr
ENST00000525056.2:n.2194C>A (ATM)
ENST00000525537.3:n.732C>A (ATM)
ENST00000638786.2:n.612C>A (ATM)
ENST00000682286.1:n.2532C>A (ATM)
ENST00000682302.1:n.2193C>A (ATM)
ENST00000683174.1:n.9259C>A (ATM)
ENST00000683524.1:n.2999C>A (ATM)
ENST00000684152.1:n.3343+467C>A (ATM)
ENST00000684447.1:n.2559C>A (ATM)
ENST00000527805.6:c.*2839C>A (ATM)	ENSP00000435747.2:n.*2839C>A
ENST00000675595.1:c.*2910C>A (ATM)	ENSP00000502563.1:n.*2910C>A
ENST00000675843.1:c.7775C>A (ATM) MANE Select	ENSP00000501606.1:p.Ser2592Tyr
ENST00000278616.8:c.7775C>A (ATM)	ENSP00000278616.4:p.Ser2592Tyr
ENST00000452508.6:c.7775C>A (ATM)	ENSP00000388058.2:p.Ser2592Tyr
ENST00000524755.5:c.300-457G>T (C11orf65)
ENST00000524792.5:n.3990C>A (ATM)
ENST00000525729.5:c.641-22953G>T (C11orf65)	ENSP00000433395.1:n.641-22953G>T
ENST00000527531.5:c.*1270-457G>T (C11orf65)	ENSP00000431706.1:n.*1270-457G>T
ENST00000533690.5:n.3179C>A (ATM)
ENST00000615746.4:c.*1270-457G>T (C11orf65)	ENSP00000483537.1:n.*1270-457G>T
NM_000051.3:c.7775C>A , LRG_135t1:c.7775C>A (ATM)	NP_000042.3:p.Ser2592Tyr
XM_005271414.3:c.*39-457G>T (C11orf65)	XP_005271471.1:n.*39-457G>T
XM_005271415.3:c.805-457G>T (C11orf65)	XP_005271472.1:n.805-457G>T
XM_005271561.3:c.7775C>A (ATM)	XP_005271618.2:p.Ser2592Tyr
XM_005271562.3:c.7775C>A (ATM)	XP_005271619.2:p.Ser2592Tyr
XM_006718843.2:c.7775C>A (ATM)	XP_006718906.1:p.Ser2592Tyr
XM_006718845.1:c.3731C>A (ATM)	XP_006718908.1:p.Ser1244Tyr
XM_011542840.1:c.7775C>A (ATM)	XP_011541142.1:p.Ser2592Tyr
XM_011542841.1:c.7775C>A (ATM)	XP_011541143.1:p.Ser2592Tyr
XM_011542842.1:c.7610C>A (ATM)	XP_011541144.1:p.Ser2537Tyr
XM_011542843.1:c.7775C>A (ATM)	XP_011541145.1:p.Ser2592Tyr
XM_011542844.1:c.6731C>A (ATM)	XP_011541146.1:p.Ser2244Tyr
XM_011542845.1:c.6467C>A (ATM)	XP_011541147.1:p.Ser2156Tyr
XM_011542847.1:c.2846C>A (ATM)	XP_011541149.1:p.Ser949Tyr
NM_001330368.1:c.641-22953G>T (C11orf65)	NP_001317297.1:n.641-22953G>T
NM_001351110.1:c.*38+3196G>T (C11orf65)	NP_001338039.1:n.*38+3196G>T
NM_001351834.1:c.7775C>A (ATM)	NP_001338763.1:p.Ser2592Tyr
NR_147053.2:n.2375-457G>T (C11orf65)
XM_005271414.4:c.*39-457G>T (C11orf65)	XP_005271471.1:n.*39-457G>T
XM_005271415.4:c.805-457G>T (C11orf65)	XP_005271472.1:n.805-457G>T
XM_005271562.5:c.7775C>A (ATM)	XP_005271619.2:p.Ser2592Tyr
XM_006718843.4:c.7775C>A (ATM)	XP_006718906.1:p.Ser2592Tyr
XM_006718845.2:c.3731C>A (ATM)	XP_006718908.1:p.Ser1244Tyr
XM_011542840.3:c.7775C>A (ATM)	XP_011541142.1:p.Ser2592Tyr
XM_011542842.3:c.7610C>A (ATM)	XP_011541144.1:p.Ser2537Tyr
XM_011542843.2:c.7775C>A (ATM)	XP_011541145.1:p.Ser2592Tyr
XM_011542844.3:c.6731C>A (ATM)	XP_011541146.1:p.Ser2244Tyr
XM_011542845.2:c.6467C>A (ATM)	XP_011541147.1:p.Ser2156Tyr
XM_017017789.2:c.7775C>A (ATM)	XP_016873278.1:p.Ser2592Tyr
XM_017017790.2:c.7775C>A (ATM)	XP_016873279.1:p.Ser2592Tyr
NM_001330368.2:c.641-22953G>T (C11orf65)	NP_001317297.1:n.641-22953G>T
NM_001351110.2:c.*38+3196G>T (C11orf65)	NP_001338039.1:n.*38+3196G>T
NM_001351834.2:c.7775C>A (ATM)	NP_001338763.1:p.Ser2592Tyr
NM_000051.4:c.7775C>A (ATM) MANE Select	NP_000042.3:p.Ser2592Tyr
NR_147053.3:n.2373-457G>T (C11orf65)