Canonical Allele Identifier: CA382554797

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2679663
• ClinVar RCV Id: RCV003466574
• dbSNP Id: rs2136310117
• MyVariant Identifiers: chr11:g.108196105A>G (hg19) ; chr11:g.108325378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325378A>G , CM000673.2:g.108325378A>G	GRCh38
NC_000011.9:g.108196105A>G , CM000673.1:g.108196105A>G	GRCh37
NC_000011.8:g.107701315A>G	NCBI36
NG_009830.1:g.107547A>G , LRG_135:g.107547A>G
NG_054724.1:g.149455T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6641A>G (ATM)	ENSP00000388058.2:p.Asp2214Gly
ENST00000713593.1:c.*6112A>G (ATM)	ENSP00000518889.1:n.*6112A>G
ENST00000278616.9:c.6641A>G (ATM)	ENSP00000278616.4:p.Asp2214Gly
ENST00000525056.2:n.1060A>G (ATM)
ENST00000682286.1:n.1398A>G (ATM)
ENST00000682302.1:n.1059A>G (ATM)
ENST00000683174.1:n.8125A>G (ATM)
ENST00000683524.1:n.1865A>G (ATM)
ENST00000684152.1:n.2355A>G (ATM)
ENST00000527805.6:c.*1705A>G (ATM)	ENSP00000435747.2:n.*1705A>G
ENST00000675595.1:c.*1776A>G (ATM)	ENSP00000502563.1:n.*1776A>G
ENST00000675843.1:c.6641A>G (ATM) MANE Select	ENSP00000501606.1:p.Asp2214Gly
ENST00000278616.8:c.6641A>G (ATM)	ENSP00000278616.4:p.Asp2214Gly
ENST00000452508.6:c.6641A>G (ATM)	ENSP00000388058.2:p.Asp2214Gly
ENST00000524792.5:n.2856A>G (ATM)
ENST00000525729.5:c.641-16307T>C (C11orf65)	ENSP00000433395.1:n.641-16307T>C
ENST00000533690.5:n.2045A>G (ATM)
NM_000051.3:c.6641A>G , LRG_135t1:c.6641A>G (ATM)	NP_000042.3:p.Asp2214Gly
XM_005271561.3:c.6641A>G (ATM)	XP_005271618.2:p.Asp2214Gly
XM_005271562.3:c.6641A>G (ATM)	XP_005271619.2:p.Asp2214Gly
XM_006718843.2:c.6641A>G (ATM)	XP_006718906.1:p.Asp2214Gly
XM_006718845.1:c.2597A>G (ATM)	XP_006718908.1:p.Asp866Gly
XM_011542840.1:c.6641A>G (ATM)	XP_011541142.1:p.Asp2214Gly
XM_011542841.1:c.6641A>G (ATM)	XP_011541143.1:p.Asp2214Gly
XM_011542842.1:c.6476A>G (ATM)	XP_011541144.1:p.Asp2159Gly
XM_011542843.1:c.6641A>G (ATM)	XP_011541145.1:p.Asp2214Gly
XM_011542844.1:c.5597A>G (ATM)	XP_011541146.1:p.Asp1866Gly
XM_011542845.1:c.5333A>G (ATM)	XP_011541147.1:p.Asp1778Gly
XM_011542847.1:c.1712A>G (ATM)	XP_011541149.1:p.Asp571Gly
NM_001330368.1:c.641-16307T>C (C11orf65)	NP_001317297.1:n.641-16307T>C
NM_001351110.1:c.*38+9842T>C (C11orf65)	NP_001338039.1:n.*38+9842T>C
NM_001351834.1:c.6641A>G (ATM)	NP_001338763.1:p.Asp2214Gly
XM_005271562.5:c.6641A>G (ATM)	XP_005271619.2:p.Asp2214Gly
XM_006718843.4:c.6641A>G (ATM)	XP_006718906.1:p.Asp2214Gly
XM_006718845.2:c.2597A>G (ATM)	XP_006718908.1:p.Asp866Gly
XM_011542840.3:c.6641A>G (ATM)	XP_011541142.1:p.Asp2214Gly
XM_011542842.3:c.6476A>G (ATM)	XP_011541144.1:p.Asp2159Gly
XM_011542843.2:c.6641A>G (ATM)	XP_011541145.1:p.Asp2214Gly
XM_011542844.3:c.5597A>G (ATM)	XP_011541146.1:p.Asp1866Gly
XM_011542845.2:c.5333A>G (ATM)	XP_011541147.1:p.Asp1778Gly
XM_017017789.2:c.6641A>G (ATM)	XP_016873278.1:p.Asp2214Gly
XM_017017790.2:c.6641A>G (ATM)	XP_016873279.1:p.Asp2214Gly
NM_001330368.2:c.641-16307T>C (C11orf65)	NP_001317297.1:n.641-16307T>C
NM_001351110.2:c.*38+9842T>C (C11orf65)	NP_001338039.1:n.*38+9842T>C
NM_001351834.2:c.6641A>G (ATM)	NP_001338763.1:p.Asp2214Gly
NM_000051.4:c.6641A>G (ATM) MANE Select	NP_000042.3:p.Asp2214Gly