Canonical Allele Identifier: CA228386647

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs3092844
• MyVariant Identifiers: chr11:g.108239307C>A (hg19) ; chr11:g.108368580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108368580C>A , CM000673.2:g.108368580C>A	GRCh38
NC_000011.9:g.108239307C>A , CM000673.1:g.108239307C>A	GRCh37
NC_000011.8:g.107744517C>A	NCBI36
NG_009830.1:g.150749C>A , LRG_135:g.150749C>A
NG_054724.1:g.106253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.*3072C>A (ATM)	ENSP00000388058.2:n.*3072C>A
ENST00000713593.1:c.*11714C>A (ATM)	ENSP00000518889.1:n.*11714C>A
ENST00000278616.9:c.*2779C>A (ATM)	ENSP00000278616.4:n.*2779C>A
ENST00000638786.1:n.970C>A (ATM)
ENST00000675843.1:c.*3072C>A (ATM) MANE Select	ENSP00000501606.1:n.*3072C>A
ENST00000278616.8:c.*3072C>A (ATM)	ENSP00000278616.4:n.*3072C>A
ENST00000452508.6:c.*3072C>A (ATM)	ENSP00000388058.2:n.*3072C>A
ENST00000524755.5:c.226+24628G>T (C11orf65)
ENST00000525729.5:c.640+17340G>T (C11orf65)	ENSP00000433395.1:n.640+17340G>T
ENST00000526725.1:n.271+24628G>T (C11orf65)
ENST00000527531.5:c.*2-12471G>T (C11orf65)	ENSP00000431706.1:n.*2-12471G>T
ENST00000615746.4:c.*2-12471G>T (C11orf65)	ENSP00000483537.1:n.*2-12471G>T
NM_000051.3:c.*3072C>A , LRG_135t1:c.*3072C>A (ATM)	NP_000042.3:n.*3072C>A
XM_005271414.3:c.787+17340G>T (C11orf65)	XP_005271471.1:n.787+17340G>T
XM_005271415.3:c.731+24628G>T (C11orf65)	XP_005271472.1:n.731+24628G>T
XM_005271561.3:c.*3072C>A (ATM)	XP_005271618.2:n.*3072C>A
XM_005271562.3:c.*3072C>A (ATM)	XP_005271619.2:n.*3072C>A
XM_006718843.2:c.*3072C>A (ATM)	XP_006718906.1:n.*3072C>A
XM_006718845.1:c.*3072C>A (ATM)	XP_006718908.1:n.*3072C>A
XM_011542640.1:c.787+17340G>T (C11orf65)	XP_011540942.1:n.787+17340G>T
XM_011542642.1:c.732-19507G>T (C11orf65)	XP_011540944.1:n.732-19507G>T
XM_011542643.1:c.731+24628G>T (C11orf65)	XP_011540945.1:n.731+24628G>T
XM_011542840.1:c.*3072C>A (ATM)	XP_011541142.1:n.*3072C>A
XM_011542841.1:c.*3072C>A (ATM)	XP_011541143.1:n.*3072C>A
XM_011542842.1:c.*3072C>A (ATM)	XP_011541144.1:n.*3072C>A
XM_011542844.1:c.*3072C>A (ATM)	XP_011541146.1:n.*3072C>A
XM_011542845.1:c.*3072C>A (ATM)	XP_011541147.1:n.*3072C>A
XM_011542847.1:c.*3072C>A (ATM)	XP_011541149.1:n.*3072C>A
NM_001330368.1:c.640+17340G>T (C11orf65)	NP_001317297.1:n.640+17340G>T
NM_001351110.1:c.694+17340G>T (C11orf65)	NP_001338039.1:n.694+17340G>T
NM_001351834.1:c.*3072C>A (ATM)	NP_001338763.1:n.*3072C>A
NR_147053.2:n.1107-12471G>T (C11orf65)
XM_005271414.4:c.787+17340G>T (C11orf65)	XP_005271471.1:n.787+17340G>T
XM_005271415.4:c.731+24628G>T (C11orf65)	XP_005271472.1:n.731+24628G>T
XM_011542640.2:c.787+17340G>T (C11orf65)	XP_011540942.1:n.787+17340G>T
XM_011542643.2:c.731+24628G>T (C11orf65)	XP_011540945.1:n.731+24628G>T
XM_017017247.1:c.903+14480G>T (C11orf65)	XP_016872736.1:n.903+14480G>T
NM_001330368.2:c.640+17340G>T (C11orf65)	NP_001317297.1:n.640+17340G>T
NM_001351110.2:c.694+17340G>T (C11orf65)	NP_001338039.1:n.694+17340G>T
NM_001351834.2:c.*3072C>A (ATM)	NP_001338763.1:n.*3072C>A
NM_000051.4:c.*3072C>A (ATM) MANE Select	NP_000042.3:n.*3072C>A
NR_147053.3:n.1105-12471G>T (C11orf65)