Canonical Allele Identifier: CA382556755

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 481151
• ClinVar RCV Id: RCV000574749
• dbSNP Id: rs1555119833
• gnomAD v4: 11-108326116-C-T
• MyVariant Identifiers: chr11:g.108196843C>T (hg19) ; chr11:g.108326116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326116C>T , CM000673.2:g.108326116C>T	GRCh38
NC_000011.9:g.108196843C>T , CM000673.1:g.108196843C>T	GRCh37
NC_000011.8:g.107702053C>T	NCBI36
NG_009830.1:g.108285C>T , LRG_135:g.108285C>T
NG_054724.1:g.148717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6866C>T (ATM)	ENSP00000388058.2:p.Ser2289Phe
ENST00000713593.1:c.*6337C>T (ATM)	ENSP00000518889.1:n.*6337C>T
ENST00000278616.9:c.6866C>T (ATM)	ENSP00000278616.4:p.Ser2289Phe
ENST00000525056.2:n.1285C>T (ATM)
ENST00000682286.1:n.1623C>T (ATM)
ENST00000682302.1:n.1284C>T (ATM)
ENST00000683174.1:n.8350C>T (ATM)
ENST00000683524.1:n.2090C>T (ATM)
ENST00000684152.1:n.2580C>T (ATM)
ENST00000527805.6:c.*1930C>T (ATM)	ENSP00000435747.2:n.*1930C>T
ENST00000675595.1:c.*2001C>T (ATM)	ENSP00000502563.1:n.*2001C>T
ENST00000675843.1:c.6866C>T (ATM) MANE Select	ENSP00000501606.1:p.Ser2289Phe
ENST00000278616.8:c.6866C>T (ATM)	ENSP00000278616.4:p.Ser2289Phe
ENST00000452508.6:c.6866C>T (ATM)	ENSP00000388058.2:p.Ser2289Phe
ENST00000524792.5:n.3081C>T (ATM)
ENST00000525729.5:c.641-17045G>A (C11orf65)	ENSP00000433395.1:n.641-17045G>A
ENST00000533690.5:n.2270C>T (ATM)
NM_000051.3:c.6866C>T , LRG_135t1:c.6866C>T (ATM)	NP_000042.3:p.Ser2289Phe
XM_005271561.3:c.6866C>T (ATM)	XP_005271618.2:p.Ser2289Phe
XM_005271562.3:c.6866C>T (ATM)	XP_005271619.2:p.Ser2289Phe
XM_006718843.2:c.6866C>T (ATM)	XP_006718906.1:p.Ser2289Phe
XM_006718845.1:c.2822C>T (ATM)	XP_006718908.1:p.Ser941Phe
XM_011542840.1:c.6866C>T (ATM)	XP_011541142.1:p.Ser2289Phe
XM_011542841.1:c.6866C>T (ATM)	XP_011541143.1:p.Ser2289Phe
XM_011542842.1:c.6701C>T (ATM)	XP_011541144.1:p.Ser2234Phe
XM_011542843.1:c.6866C>T (ATM)	XP_011541145.1:p.Ser2289Phe
XM_011542844.1:c.5822C>T (ATM)	XP_011541146.1:p.Ser1941Phe
XM_011542845.1:c.5558C>T (ATM)	XP_011541147.1:p.Ser1853Phe
XM_011542847.1:c.1937C>T (ATM)	XP_011541149.1:p.Ser646Phe
NM_001330368.1:c.641-17045G>A (C11orf65)	NP_001317297.1:n.641-17045G>A
NM_001351110.1:c.*38+9104G>A (C11orf65)	NP_001338039.1:n.*38+9104G>A
NM_001351834.1:c.6866C>T (ATM)	NP_001338763.1:p.Ser2289Phe
XM_005271562.5:c.6866C>T (ATM)	XP_005271619.2:p.Ser2289Phe
XM_006718843.4:c.6866C>T (ATM)	XP_006718906.1:p.Ser2289Phe
XM_006718845.2:c.2822C>T (ATM)	XP_006718908.1:p.Ser941Phe
XM_011542840.3:c.6866C>T (ATM)	XP_011541142.1:p.Ser2289Phe
XM_011542842.3:c.6701C>T (ATM)	XP_011541144.1:p.Ser2234Phe
XM_011542843.2:c.6866C>T (ATM)	XP_011541145.1:p.Ser2289Phe
XM_011542844.3:c.5822C>T (ATM)	XP_011541146.1:p.Ser1941Phe
XM_011542845.2:c.5558C>T (ATM)	XP_011541147.1:p.Ser1853Phe
XM_017017789.2:c.6866C>T (ATM)	XP_016873278.1:p.Ser2289Phe
XM_017017790.2:c.6866C>T (ATM)	XP_016873279.1:p.Ser2289Phe
NM_001330368.2:c.641-17045G>A (C11orf65)	NP_001317297.1:n.641-17045G>A
NM_001351110.2:c.*38+9104G>A (C11orf65)	NP_001338039.1:n.*38+9104G>A
NM_001351834.2:c.6866C>T (ATM)	NP_001338763.1:p.Ser2289Phe
NM_000051.4:c.6866C>T (ATM) MANE Select	NP_000042.3:p.Ser2289Phe