Canonical Allele Identifier: CA382517972

Gene: ATM C11orf65

Linked Data

• COSMIC: COSM4407806 ; COSM4407807
• MyVariant Identifiers: chr11:g.108216518G>T (hg19) ; chr11:g.108345791G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108345791G>T , CM000673.2:g.108345791G>T	GRCh38
NC_000011.9:g.108216518G>T , CM000673.1:g.108216518G>T	GRCh37
NC_000011.8:g.107721728G>T	NCBI36
NG_009830.1:g.127960G>T , LRG_135:g.127960G>T
NG_054724.1:g.129042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8467G>T (ATM)	ENSP00000388058.2:p.Val2823Phe
ENST00000713593.1:c.*7938G>T (ATM)	ENSP00000518889.1:n.*7938G>T
ENST00000278616.9:c.8467G>T (ATM)	ENSP00000278616.4:p.Val2823Phe
ENST00000638786.2:n.1165G>T (ATM)
ENST00000682286.1:n.3224G>T (ATM)
ENST00000682302.1:n.2885G>T (ATM)
ENST00000683174.1:n.9951G>T (ATM)
ENST00000683524.1:n.3691G>T (ATM)
ENST00000684152.1:n.3883G>T (ATM)
ENST00000684180.1:n.941G>T (ATM)
ENST00000684447.1:n.4960G>T (ATM)
ENST00000527805.6:c.*3531G>T (ATM)	ENSP00000435747.2:n.*3531G>T
ENST00000675595.1:c.*3602G>T (ATM)	ENSP00000502563.1:n.*3602G>T
ENST00000675843.1:c.8467G>T (ATM) MANE Select	ENSP00000501606.1:p.Val2823Phe
ENST00000278616.8:c.8467G>T (ATM)	ENSP00000278616.4:p.Val2823Phe
ENST00000452508.6:c.8467G>T (ATM)	ENSP00000388058.2:p.Val2823Phe
ENST00000524755.5:c.227-10499C>A (C11orf65)
ENST00000524792.5:n.4682G>T (ATM)
ENST00000525729.5:c.641-36720C>A (C11orf65)	ENSP00000433395.1:n.641-36720C>A
ENST00000526725.1:n.272-5427C>A (C11orf65)
ENST00000527531.5:c.*1196+9124C>A (C11orf65)	ENSP00000431706.1:n.*1196+9124C>A
ENST00000615746.4:c.*1196+9124C>A (C11orf65)	ENSP00000483537.1:n.*1196+9124C>A
NM_000051.3:c.8467G>T , LRG_135t1:c.8467G>T (ATM)	NP_000042.3:p.Val2823Phe
XM_005271414.3:c.788-10499C>A (C11orf65)	XP_005271471.1:n.788-10499C>A
XM_005271415.3:c.732-10499C>A (C11orf65)	XP_005271472.1:n.732-10499C>A
XM_005271561.3:c.8467G>T (ATM)	XP_005271618.2:p.Val2823Phe
XM_005271562.3:c.8467G>T (ATM)	XP_005271619.2:p.Val2823Phe
XM_006718843.2:c.8467G>T (ATM)	XP_006718906.1:p.Val2823Phe
XM_006718845.1:c.4423G>T (ATM)	XP_006718908.1:p.Val1475Phe
XM_011542640.1:c.788-5427C>A (C11orf65)	XP_011540942.1:n.788-5427C>A
XM_011542643.1:c.732-5427C>A (C11orf65)	XP_011540945.1:n.732-5427C>A
XM_011542840.1:c.8467G>T (ATM)	XP_011541142.1:p.Val2823Phe
XM_011542841.1:c.8467G>T (ATM)	XP_011541143.1:p.Val2823Phe
XM_011542842.1:c.8302G>T (ATM)	XP_011541144.1:p.Val2768Phe
XM_011542843.1:c.8467G>T (ATM)	XP_011541145.1:p.Val2823Phe
XM_011542844.1:c.7423G>T (ATM)	XP_011541146.1:p.Val2475Phe
XM_011542845.1:c.7159G>T (ATM)	XP_011541147.1:p.Val2387Phe
XM_011542847.1:c.3538G>T (ATM)	XP_011541149.1:p.Val1180Phe
NM_001330368.1:c.641-36720C>A (C11orf65)	NP_001317297.1:n.641-36720C>A
NM_001351110.1:c.695-10499C>A (C11orf65)	NP_001338039.1:n.695-10499C>A
NM_001351834.1:c.8467G>T (ATM)	NP_001338763.1:p.Val2823Phe
NR_147053.2:n.2301+9124C>A (C11orf65)
XM_005271414.4:c.788-10499C>A (C11orf65)	XP_005271471.1:n.788-10499C>A
XM_005271415.4:c.732-10499C>A (C11orf65)	XP_005271472.1:n.732-10499C>A
XM_005271562.5:c.8467G>T (ATM)	XP_005271619.2:p.Val2823Phe
XM_006718843.4:c.8467G>T (ATM)	XP_006718906.1:p.Val2823Phe
XM_006718845.2:c.4423G>T (ATM)	XP_006718908.1:p.Val1475Phe
XM_011542640.2:c.788-5427C>A (C11orf65)	XP_011540942.1:n.788-5427C>A
XM_011542643.2:c.732-5427C>A (C11orf65)	XP_011540945.1:n.732-5427C>A
XM_011542840.3:c.8467G>T (ATM)	XP_011541142.1:p.Val2823Phe
XM_011542842.3:c.8302G>T (ATM)	XP_011541144.1:p.Val2768Phe
XM_011542843.2:c.8467G>T (ATM)	XP_011541145.1:p.Val2823Phe
XM_011542844.3:c.7423G>T (ATM)	XP_011541146.1:p.Val2475Phe
XM_011542845.2:c.7159G>T (ATM)	XP_011541147.1:p.Val2387Phe
XM_017017247.1:c.904-5427C>A (C11orf65)	XP_016872736.1:n.904-5427C>A
XM_017017789.2:c.8467G>T (ATM)	XP_016873278.1:p.Val2823Phe
XM_017017790.2:c.8467G>T (ATM)	XP_016873279.1:p.Val2823Phe
NM_001330368.2:c.641-36720C>A (C11orf65)	NP_001317297.1:n.641-36720C>A
NM_001351110.2:c.695-10499C>A (C11orf65)	NP_001338039.1:n.695-10499C>A
NM_001351834.2:c.8467G>T (ATM)	NP_001338763.1:p.Val2823Phe
NM_000051.4:c.8467G>T (ATM) MANE Select	NP_000042.3:p.Val2823Phe
NR_147053.3:n.2299+9124C>A (C11orf65)