Canonical Allele Identifier: CA382559376

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs759439613
• MyVariant Identifiers: chr11:g.108199748G>T (hg19) ; chr11:g.108329021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329021G>T , CM000673.2:g.108329021G>T	GRCh38
NC_000011.9:g.108199748G>T , CM000673.1:g.108199748G>T	GRCh37
NC_000011.8:g.107704958G>T	NCBI36
NG_009830.1:g.111190G>T , LRG_135:g.111190G>T
NG_054724.1:g.145812C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7090G>T (ATM)	ENSP00000388058.2:p.Ala2364Ser
ENST00000713593.1:c.*6561G>T (ATM)	ENSP00000518889.1:n.*6561G>T
ENST00000278616.9:c.7090G>T (ATM)	ENSP00000278616.4:p.Ala2364Ser
ENST00000525056.2:n.1509G>T (ATM)
ENST00000525537.3:n.47G>T (ATM)
ENST00000682286.1:n.1847G>T (ATM)
ENST00000682302.1:n.1508G>T (ATM)
ENST00000683174.1:n.8574G>T (ATM)
ENST00000683524.1:n.2314G>T (ATM)
ENST00000684152.1:n.2804G>T (ATM)
ENST00000684447.1:n.1553G>T (ATM)
ENST00000527805.6:c.*2154G>T (ATM)	ENSP00000435747.2:n.*2154G>T
ENST00000675595.1:c.*2225G>T (ATM)	ENSP00000502563.1:n.*2225G>T
ENST00000675843.1:c.7090G>T (ATM) MANE Select	ENSP00000501606.1:p.Ala2364Ser
ENST00000278616.8:c.7090G>T (ATM)	ENSP00000278616.4:p.Ala2364Ser
ENST00000452508.6:c.7090G>T (ATM)	ENSP00000388058.2:p.Ala2364Ser
ENST00000524792.5:n.3305G>T (ATM)
ENST00000525537.2:n.366G>T (ATM)
ENST00000525729.5:c.641-19950C>A (C11orf65)	ENSP00000433395.1:n.641-19950C>A
ENST00000527389.2:n.115G>T (ATM)
ENST00000533690.5:n.2494G>T (ATM)
NM_000051.3:c.7090G>T , LRG_135t1:c.7090G>T (ATM)	NP_000042.3:p.Ala2364Ser
XM_005271561.3:c.7090G>T (ATM)	XP_005271618.2:p.Ala2364Ser
XM_005271562.3:c.7090G>T (ATM)	XP_005271619.2:p.Ala2364Ser
XM_006718843.2:c.7090G>T (ATM)	XP_006718906.1:p.Ala2364Ser
XM_006718845.1:c.3046G>T (ATM)	XP_006718908.1:p.Ala1016Ser
XM_011542840.1:c.7090G>T (ATM)	XP_011541142.1:p.Ala2364Ser
XM_011542841.1:c.7090G>T (ATM)	XP_011541143.1:p.Ala2364Ser
XM_011542842.1:c.6925G>T (ATM)	XP_011541144.1:p.Ala2309Ser
XM_011542843.1:c.7090G>T (ATM)	XP_011541145.1:p.Ala2364Ser
XM_011542844.1:c.6046G>T (ATM)	XP_011541146.1:p.Ala2016Ser
XM_011542845.1:c.5782G>T (ATM)	XP_011541147.1:p.Ala1928Ser
XM_011542847.1:c.2161G>T (ATM)	XP_011541149.1:p.Ala721Ser
NM_001330368.1:c.641-19950C>A (C11orf65)	NP_001317297.1:n.641-19950C>A
NM_001351110.1:c.*38+6199C>A (C11orf65)	NP_001338039.1:n.*38+6199C>A
NM_001351834.1:c.7090G>T (ATM)	NP_001338763.1:p.Ala2364Ser
XM_005271562.5:c.7090G>T (ATM)	XP_005271619.2:p.Ala2364Ser
XM_006718843.4:c.7090G>T (ATM)	XP_006718906.1:p.Ala2364Ser
XM_006718845.2:c.3046G>T (ATM)	XP_006718908.1:p.Ala1016Ser
XM_011542840.3:c.7090G>T (ATM)	XP_011541142.1:p.Ala2364Ser
XM_011542842.3:c.6925G>T (ATM)	XP_011541144.1:p.Ala2309Ser
XM_011542843.2:c.7090G>T (ATM)	XP_011541145.1:p.Ala2364Ser
XM_011542844.3:c.6046G>T (ATM)	XP_011541146.1:p.Ala2016Ser
XM_011542845.2:c.5782G>T (ATM)	XP_011541147.1:p.Ala1928Ser
XM_017017789.2:c.7090G>T (ATM)	XP_016873278.1:p.Ala2364Ser
XM_017017790.2:c.7090G>T (ATM)	XP_016873279.1:p.Ala2364Ser
NM_001330368.2:c.641-19950C>A (C11orf65)	NP_001317297.1:n.641-19950C>A
NM_001351110.2:c.*38+6199C>A (C11orf65)	NP_001338039.1:n.*38+6199C>A
NM_001351834.2:c.7090G>T (ATM)	NP_001338763.1:p.Ala2364Ser
NM_000051.4:c.7090G>T (ATM) MANE Select	NP_000042.3:p.Ala2364Ser