Canonical Allele Identifier: CA382550080

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 453610
• ClinVar RCV Id: RCV003387870
• dbSNP Id: rs1486220915
• gnomAD v2: 11-108186611-G-A
• gnomAD v3: 11-108315884-G-A
• gnomAD v4: 11-108315884-G-A
• MyVariant Identifiers: chr11:g.108186611G>A (hg19) ; chr11:g.108315884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315884G>A , CM000673.2:g.108315884G>A	GRCh38
NC_000011.9:g.108186611G>A , CM000673.1:g.108186611G>A	GRCh37
NC_000011.8:g.107691821G>A	NCBI36
NG_009830.1:g.98053G>A , LRG_135:g.98053G>A
NG_054724.1:g.158949C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6068G>A (ATM)	ENSP00000388058.2:p.Gly2023Glu
ENST00000713593.1:c.*5539G>A (ATM)	ENSP00000518889.1:n.*5539G>A
ENST00000278616.9:c.6068G>A (ATM)	ENSP00000278616.4:p.Gly2023Glu
ENST00000525056.2:n.487G>A (ATM)
ENST00000682286.1:n.825G>A (ATM)
ENST00000682302.1:n.486G>A (ATM)
ENST00000683174.1:n.7552G>A (ATM)
ENST00000683524.1:n.1292G>A (ATM)
ENST00000684152.1:n.1782G>A (ATM)
ENST00000527805.6:c.*1132G>A (ATM)	ENSP00000435747.2:n.*1132G>A
ENST00000675595.1:c.*1132G>A (ATM)	ENSP00000502563.1:n.*1132G>A
ENST00000675843.1:c.6068G>A (ATM) MANE Select	ENSP00000501606.1:p.Gly2023Glu
ENST00000278616.8:c.6068G>A (ATM)	ENSP00000278616.4:p.Gly2023Glu
ENST00000452508.6:c.6068G>A (ATM)	ENSP00000388058.2:p.Gly2023Glu
ENST00000524792.5:n.2283G>A (ATM)
ENST00000525729.5:c.641-6813C>T (C11orf65)	ENSP00000433395.1:n.641-6813C>T
ENST00000529588.5:c.492G>A (ATM)
ENST00000532765.1:n.385G>A (ATM)
ENST00000533690.5:n.1472G>A (ATM)
NM_000051.3:c.6068G>A , LRG_135t1:c.6068G>A (ATM)	NP_000042.3:p.Gly2023Glu
XM_005271561.3:c.6068G>A (ATM)	XP_005271618.2:p.Gly2023Glu
XM_005271562.3:c.6068G>A (ATM)	XP_005271619.2:p.Gly2023Glu
XM_006718843.2:c.6068G>A (ATM)	XP_006718906.1:p.Gly2023Glu
XM_006718845.1:c.2024G>A (ATM)	XP_006718908.1:p.Gly675Glu
XM_011542840.1:c.6068G>A (ATM)	XP_011541142.1:p.Gly2023Glu
XM_011542841.1:c.6068G>A (ATM)	XP_011541143.1:p.Gly2023Glu
XM_011542842.1:c.5903G>A (ATM)	XP_011541144.1:p.Gly1968Glu
XM_011542843.1:c.6068G>A (ATM)	XP_011541145.1:p.Gly2023Glu
XM_011542844.1:c.5024G>A (ATM)	XP_011541146.1:p.Gly1675Glu
XM_011542845.1:c.4760G>A (ATM)	XP_011541147.1:p.Gly1587Glu
XM_011542847.1:c.1139G>A (ATM)	XP_011541149.1:p.Gly380Glu
NM_001330368.1:c.641-6813C>T (C11orf65)	NP_001317297.1:n.641-6813C>T
NM_001351110.1:c.*39-6813C>T (C11orf65)	NP_001338039.1:n.*39-6813C>T
NM_001351834.1:c.6068G>A (ATM)	NP_001338763.1:p.Gly2023Glu
XM_005271562.5:c.6068G>A (ATM)	XP_005271619.2:p.Gly2023Glu
XM_006718843.4:c.6068G>A (ATM)	XP_006718906.1:p.Gly2023Glu
XM_006718845.2:c.2024G>A (ATM)	XP_006718908.1:p.Gly675Glu
XM_011542840.3:c.6068G>A (ATM)	XP_011541142.1:p.Gly2023Glu
XM_011542842.3:c.5903G>A (ATM)	XP_011541144.1:p.Gly1968Glu
XM_011542843.2:c.6068G>A (ATM)	XP_011541145.1:p.Gly2023Glu
XM_011542844.3:c.5024G>A (ATM)	XP_011541146.1:p.Gly1675Glu
XM_011542845.2:c.4760G>A (ATM)	XP_011541147.1:p.Gly1587Glu
XM_017017789.2:c.6068G>A (ATM)	XP_016873278.1:p.Gly2023Glu
XM_017017790.2:c.6068G>A (ATM)	XP_016873279.1:p.Gly2023Glu
XM_017017791.1:c.6068G>A (ATM)	XP_016873280.1:p.Gly2023Glu
NM_001330368.2:c.641-6813C>T (C11orf65)	NP_001317297.1:n.641-6813C>T
NM_001351110.2:c.*39-6813C>T (C11orf65)	NP_001338039.1:n.*39-6813C>T
NM_001351834.2:c.6068G>A (ATM)	NP_001338763.1:p.Gly2023Glu
NM_000051.4:c.6068G>A (ATM) MANE Select	NP_000042.3:p.Gly2023Glu