Canonical Allele Identifier: CA6266036

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 478983
• ClinVar RCV Id: RCV000561076 ; RCV000628114
• dbSNP Id: rs750285816
• ExAC: 11:108196927 A / C
• gnomAD v2: 11-108196927-A-C
• gnomAD v4: 11-108326200-A-C
• MyVariant Identifiers: chr11:g.108196927A>C (hg19) ; chr11:g.108326200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326200A>C , CM000673.2:g.108326200A>C	GRCh38
NC_000011.9:g.108196927A>C , CM000673.1:g.108196927A>C	GRCh37
NC_000011.8:g.107702137A>C	NCBI36
NG_009830.1:g.108369A>C , LRG_135:g.108369A>C
NG_054724.1:g.148633T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6950A>C (ATM)	ENSP00000388058.2:p.Lys2317Thr
ENST00000713593.1:c.*6421A>C (ATM)	ENSP00000518889.1:n.*6421A>C
ENST00000278616.9:c.6950A>C (ATM)	ENSP00000278616.4:p.Lys2317Thr
ENST00000525056.2:n.1369A>C (ATM)
ENST00000682286.1:n.1707A>C (ATM)
ENST00000682302.1:n.1368A>C (ATM)
ENST00000683174.1:n.8434A>C (ATM)
ENST00000683524.1:n.2174A>C (ATM)
ENST00000684152.1:n.2664A>C (ATM)
ENST00000527805.6:c.*2014A>C (ATM)	ENSP00000435747.2:n.*2014A>C
ENST00000675595.1:c.*2085A>C (ATM)	ENSP00000502563.1:n.*2085A>C
ENST00000675843.1:c.6950A>C (ATM) MANE Select	ENSP00000501606.1:p.Lys2317Thr
ENST00000278616.8:c.6950A>C (ATM)	ENSP00000278616.4:p.Lys2317Thr
ENST00000452508.6:c.6950A>C (ATM)	ENSP00000388058.2:p.Lys2317Thr
ENST00000524792.5:n.3165A>C (ATM)
ENST00000525729.5:c.641-17129T>G (C11orf65)	ENSP00000433395.1:n.641-17129T>G
ENST00000533690.5:n.2354A>C (ATM)
NM_000051.3:c.6950A>C , LRG_135t1:c.6950A>C (ATM)	NP_000042.3:p.Lys2317Thr
XM_005271561.3:c.6950A>C (ATM)	XP_005271618.2:p.Lys2317Thr
XM_005271562.3:c.6950A>C (ATM)	XP_005271619.2:p.Lys2317Thr
XM_006718843.2:c.6950A>C (ATM)	XP_006718906.1:p.Lys2317Thr
XM_006718845.1:c.2906A>C (ATM)	XP_006718908.1:p.Lys969Thr
XM_011542840.1:c.6950A>C (ATM)	XP_011541142.1:p.Lys2317Thr
XM_011542841.1:c.6950A>C (ATM)	XP_011541143.1:p.Lys2317Thr
XM_011542842.1:c.6785A>C (ATM)	XP_011541144.1:p.Lys2262Thr
XM_011542843.1:c.6950A>C (ATM)	XP_011541145.1:p.Lys2317Thr
XM_011542844.1:c.5906A>C (ATM)	XP_011541146.1:p.Lys1969Thr
XM_011542845.1:c.5642A>C (ATM)	XP_011541147.1:p.Lys1881Thr
XM_011542847.1:c.2021A>C (ATM)	XP_011541149.1:p.Lys674Thr
NM_001330368.1:c.641-17129T>G (C11orf65)	NP_001317297.1:n.641-17129T>G
NM_001351110.1:c.*38+9020T>G (C11orf65)	NP_001338039.1:n.*38+9020T>G
NM_001351834.1:c.6950A>C (ATM)	NP_001338763.1:p.Lys2317Thr
XM_005271562.5:c.6950A>C (ATM)	XP_005271619.2:p.Lys2317Thr
XM_006718843.4:c.6950A>C (ATM)	XP_006718906.1:p.Lys2317Thr
XM_006718845.2:c.2906A>C (ATM)	XP_006718908.1:p.Lys969Thr
XM_011542840.3:c.6950A>C (ATM)	XP_011541142.1:p.Lys2317Thr
XM_011542842.3:c.6785A>C (ATM)	XP_011541144.1:p.Lys2262Thr
XM_011542843.2:c.6950A>C (ATM)	XP_011541145.1:p.Lys2317Thr
XM_011542844.3:c.5906A>C (ATM)	XP_011541146.1:p.Lys1969Thr
XM_011542845.2:c.5642A>C (ATM)	XP_011541147.1:p.Lys1881Thr
XM_017017789.2:c.6950A>C (ATM)	XP_016873278.1:p.Lys2317Thr
XM_017017790.2:c.6950A>C (ATM)	XP_016873279.1:p.Lys2317Thr
NM_001330368.2:c.641-17129T>G (C11orf65)	NP_001317297.1:n.641-17129T>G
NM_001351110.2:c.*38+9020T>G (C11orf65)	NP_001338039.1:n.*38+9020T>G
NM_001351834.2:c.6950A>C (ATM)	NP_001338763.1:p.Lys2317Thr
NM_000051.4:c.6950A>C (ATM) MANE Select	NP_000042.3:p.Lys2317Thr