Canonical Allele Identifier: CA382561678

Gene: ATM C11orf65

Linked Data

• MyVariant Identifiers: chr11:g.108204625T>A (hg19) ; chr11:g.108333898T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333898T>A , CM000673.2:g.108333898T>A	GRCh38
NC_000011.9:g.108204625T>A , CM000673.1:g.108204625T>A	GRCh37
NC_000011.8:g.107709835T>A	NCBI36
NG_009830.1:g.116067T>A , LRG_135:g.116067T>A
NG_054724.1:g.140935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7940T>A (ATM)	ENSP00000388058.2:p.Ile2647Asn
ENST00000713593.1:c.*7411T>A (ATM)	ENSP00000518889.1:n.*7411T>A
ENST00000278616.9:c.7940T>A (ATM)	ENSP00000278616.4:p.Ile2647Asn
ENST00000525056.2:n.2359T>A (ATM)
ENST00000638786.2:n.638T>A (ATM)
ENST00000682286.1:n.2697T>A (ATM)
ENST00000682302.1:n.2358T>A (ATM)
ENST00000683174.1:n.9424T>A (ATM)
ENST00000683524.1:n.3164T>A (ATM)
ENST00000684152.1:n.3356T>A (ATM)
ENST00000684180.1:n.414T>A (ATM)
ENST00000684447.1:n.4433T>A (ATM)
ENST00000527805.6:c.*3004T>A (ATM)	ENSP00000435747.2:n.*3004T>A
ENST00000675595.1:c.*3075T>A (ATM)	ENSP00000502563.1:n.*3075T>A
ENST00000675843.1:c.7940T>A (ATM) MANE Select	ENSP00000501606.1:p.Ile2647Asn
ENST00000278616.8:c.7940T>A (ATM)	ENSP00000278616.4:p.Ile2647Asn
ENST00000452508.6:c.7940T>A (ATM)	ENSP00000388058.2:p.Ile2647Asn
ENST00000524755.5:c.299+1322A>T (C11orf65)
ENST00000524792.5:n.4155T>A (ATM)
ENST00000525056.1:n.137T>A (ATM)
ENST00000525729.5:c.641-24827A>T (C11orf65)	ENSP00000433395.1:n.641-24827A>T
ENST00000527531.5:c.*1269+1322A>T (C11orf65)	ENSP00000431706.1:n.*1269+1322A>T
ENST00000533690.5:n.3344T>A (ATM)
ENST00000533979.5:n.152T>A (ATM)
ENST00000615746.4:c.*1269+1322A>T (C11orf65)	ENSP00000483537.1:n.*1269+1322A>T
NM_000051.3:c.7940T>A , LRG_135t1:c.7940T>A (ATM)	NP_000042.3:p.Ile2647Asn
XM_005271414.3:c.*38+1322A>T (C11orf65)	XP_005271471.1:n.*38+1322A>T
XM_005271415.3:c.804+1322A>T (C11orf65)	XP_005271472.1:n.804+1322A>T
XM_005271561.3:c.7940T>A (ATM)	XP_005271618.2:p.Ile2647Asn
XM_005271562.3:c.7940T>A (ATM)	XP_005271619.2:p.Ile2647Asn
XM_006718843.2:c.7940T>A (ATM)	XP_006718906.1:p.Ile2647Asn
XM_006718845.1:c.3896T>A (ATM)	XP_006718908.1:p.Ile1299Asn
XM_011542840.1:c.7940T>A (ATM)	XP_011541142.1:p.Ile2647Asn
XM_011542841.1:c.7940T>A (ATM)	XP_011541143.1:p.Ile2647Asn
XM_011542842.1:c.7775T>A (ATM)	XP_011541144.1:p.Ile2592Asn
XM_011542843.1:c.7940T>A (ATM)	XP_011541145.1:p.Ile2647Asn
XM_011542844.1:c.6896T>A (ATM)	XP_011541146.1:p.Ile2299Asn
XM_011542845.1:c.6632T>A (ATM)	XP_011541147.1:p.Ile2211Asn
XM_011542847.1:c.3011T>A (ATM)	XP_011541149.1:p.Ile1004Asn
NM_001330368.1:c.641-24827A>T (C11orf65)	NP_001317297.1:n.641-24827A>T
NM_001351110.1:c.*38+1322A>T (C11orf65)	NP_001338039.1:n.*38+1322A>T
NM_001351834.1:c.7940T>A (ATM)	NP_001338763.1:p.Ile2647Asn
NR_147053.2:n.2374+1322A>T (C11orf65)
XM_005271414.4:c.*38+1322A>T (C11orf65)	XP_005271471.1:n.*38+1322A>T
XM_005271415.4:c.804+1322A>T (C11orf65)	XP_005271472.1:n.804+1322A>T
XM_005271562.5:c.7940T>A (ATM)	XP_005271619.2:p.Ile2647Asn
XM_006718843.4:c.7940T>A (ATM)	XP_006718906.1:p.Ile2647Asn
XM_006718845.2:c.3896T>A (ATM)	XP_006718908.1:p.Ile1299Asn
XM_011542840.3:c.7940T>A (ATM)	XP_011541142.1:p.Ile2647Asn
XM_011542842.3:c.7775T>A (ATM)	XP_011541144.1:p.Ile2592Asn
XM_011542843.2:c.7940T>A (ATM)	XP_011541145.1:p.Ile2647Asn
XM_011542844.3:c.6896T>A (ATM)	XP_011541146.1:p.Ile2299Asn
XM_011542845.2:c.6632T>A (ATM)	XP_011541147.1:p.Ile2211Asn
XM_017017789.2:c.7940T>A (ATM)	XP_016873278.1:p.Ile2647Asn
XM_017017790.2:c.7940T>A (ATM)	XP_016873279.1:p.Ile2647Asn
NM_001330368.2:c.641-24827A>T (C11orf65)	NP_001317297.1:n.641-24827A>T
NM_001351110.2:c.*38+1322A>T (C11orf65)	NP_001338039.1:n.*38+1322A>T
NM_001351834.2:c.7940T>A (ATM)	NP_001338763.1:p.Ile2647Asn
NM_000051.4:c.7940T>A (ATM) MANE Select	NP_000042.3:p.Ile2647Asn
NR_147053.3:n.2372+1322A>T (C11orf65)