Canonical Allele Identifier: CA10579196

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 230900
• ClinVar RCV Id: RCV000223352 ; RCV000700558
• dbSNP Id: rs876658831
• gnomAD v4: 11-108310168-C-T
• MyVariant Identifiers: chr11:g.108180895C>T (hg19) ; chr11:g.108310168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310168C>T , CM000673.2:g.108310168C>T	GRCh38
NC_000011.9:g.108180895C>T , CM000673.1:g.108180895C>T	GRCh37
NC_000011.8:g.107686105C>T	NCBI36
NG_009830.1:g.92337C>T , LRG_135:g.92337C>T
NG_054724.1:g.164665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5771C>T (ATM)	ENSP00000388058.2:p.Ser1924Leu
ENST00000713593.1:c.*5242C>T (ATM)	ENSP00000518889.1:n.*5242C>T
ENST00000278616.9:c.5771C>T (ATM)	ENSP00000278616.4:p.Ser1924Leu
ENST00000525056.2:n.190C>T (ATM)
ENST00000682286.1:n.528C>T (ATM)
ENST00000682302.1:n.189C>T (ATM)
ENST00000683174.1:n.7255C>T (ATM)
ENST00000683524.1:n.995C>T (ATM)
ENST00000684152.1:n.1485C>T (ATM)
ENST00000527805.6:c.*835C>T (ATM)	ENSP00000435747.2:n.*835C>T
ENST00000675595.1:c.*835C>T (ATM)	ENSP00000502563.1:n.*835C>T
ENST00000675843.1:c.5771C>T (ATM) MANE Select	ENSP00000501606.1:p.Ser1924Leu
ENST00000278616.8:c.5771C>T (ATM)	ENSP00000278616.4:p.Ser1924Leu
ENST00000452508.6:c.5771C>T (ATM)	ENSP00000388058.2:p.Ser1924Leu
ENST00000524792.5:n.1986C>T (ATM)
ENST00000525729.5:c.641-1097G>A (C11orf65)	ENSP00000433395.1:n.641-1097G>A
ENST00000529588.5:c.195C>T (ATM)
ENST00000532765.1:n.88C>T (ATM)
ENST00000533690.5:n.1175C>T (ATM)
NM_000051.3:c.5771C>T , LRG_135t1:c.5771C>T (ATM)	NP_000042.3:p.Ser1924Leu
XM_005271561.3:c.5771C>T (ATM)	XP_005271618.2:p.Ser1924Leu
XM_005271562.3:c.5771C>T (ATM)	XP_005271619.2:p.Ser1924Leu
XM_006718843.2:c.5771C>T (ATM)	XP_006718906.1:p.Ser1924Leu
XM_006718845.1:c.1727C>T (ATM)	XP_006718908.1:p.Ser576Leu
XM_011542840.1:c.5771C>T (ATM)	XP_011541142.1:p.Ser1924Leu
XM_011542841.1:c.5771C>T (ATM)	XP_011541143.1:p.Ser1924Leu
XM_011542842.1:c.5606C>T (ATM)	XP_011541144.1:p.Ser1869Leu
XM_011542843.1:c.5771C>T (ATM)	XP_011541145.1:p.Ser1924Leu
XM_011542844.1:c.4727C>T (ATM)	XP_011541146.1:p.Ser1576Leu
XM_011542845.1:c.4463C>T (ATM)	XP_011541147.1:p.Ser1488Leu
XM_011542847.1:c.842C>T (ATM)	XP_011541149.1:p.Ser281Leu
NM_001330368.1:c.641-1097G>A (C11orf65)	NP_001317297.1:n.641-1097G>A
NM_001351110.1:c.*39-1097G>A (C11orf65)	NP_001338039.1:n.*39-1097G>A
NM_001351834.1:c.5771C>T (ATM)	NP_001338763.1:p.Ser1924Leu
XM_005271562.5:c.5771C>T (ATM)	XP_005271619.2:p.Ser1924Leu
XM_006718843.4:c.5771C>T (ATM)	XP_006718906.1:p.Ser1924Leu
XM_006718845.2:c.1727C>T (ATM)	XP_006718908.1:p.Ser576Leu
XM_011542840.3:c.5771C>T (ATM)	XP_011541142.1:p.Ser1924Leu
XM_011542842.3:c.5606C>T (ATM)	XP_011541144.1:p.Ser1869Leu
XM_011542843.2:c.5771C>T (ATM)	XP_011541145.1:p.Ser1924Leu
XM_011542844.3:c.4727C>T (ATM)	XP_011541146.1:p.Ser1576Leu
XM_011542845.2:c.4463C>T (ATM)	XP_011541147.1:p.Ser1488Leu
XM_017017789.2:c.5771C>T (ATM)	XP_016873278.1:p.Ser1924Leu
XM_017017790.2:c.5771C>T (ATM)	XP_016873279.1:p.Ser1924Leu
XM_017017791.1:c.5771C>T (ATM)	XP_016873280.1:p.Ser1924Leu
XR_002957150.1:n.6371C>T (ATM)
NM_001330368.2:c.641-1097G>A (C11orf65)	NP_001317297.1:n.641-1097G>A
NM_001351110.2:c.*39-1097G>A (C11orf65)	NP_001338039.1:n.*39-1097G>A
NM_001351834.2:c.5771C>T (ATM)	NP_001338763.1:p.Ser1924Leu
NM_000051.4:c.5771C>T (ATM) MANE Select	NP_000042.3:p.Ser1924Leu