Canonical Allele Identifier: CA382560318

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 453685
• ClinVar RCV Id: RCV000562572 ; RCV000779799 ; RCV000553049 ; RCV003470685 ; RCV003148773
• dbSNP Id: rs1555123191
• gnomAD v4: 11-108330351-T-C
• MyVariant Identifiers: chr11:g.108201078T>C (hg19) ; chr11:g.108330351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330351T>C , CM000673.2:g.108330351T>C	GRCh38
NC_000011.9:g.108201078T>C , CM000673.1:g.108201078T>C	GRCh37
NC_000011.8:g.107706288T>C	NCBI36
NG_009830.1:g.112520T>C , LRG_135:g.112520T>C
NG_054724.1:g.144482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7445T>C (ATM)	ENSP00000388058.2:p.Met2482Thr
ENST00000713593.1:c.*6916T>C (ATM)	ENSP00000518889.1:n.*6916T>C
ENST00000278616.9:c.7445T>C (ATM)	ENSP00000278616.4:p.Met2482Thr
ENST00000525056.2:n.1864T>C (ATM)
ENST00000525537.3:n.402T>C (ATM)
ENST00000638786.2:n.282T>C (ATM)
ENST00000682286.1:n.2202T>C (ATM)
ENST00000682302.1:n.1863T>C (ATM)
ENST00000683174.1:n.8929T>C (ATM)
ENST00000683524.1:n.2669T>C (ATM)
ENST00000684152.1:n.3159T>C (ATM)
ENST00000684447.1:n.1908T>C (ATM)
ENST00000527805.6:c.*2509T>C (ATM)	ENSP00000435747.2:n.*2509T>C
ENST00000675595.1:c.*2580T>C (ATM)	ENSP00000502563.1:n.*2580T>C
ENST00000675843.1:c.7445T>C (ATM) MANE Select	ENSP00000501606.1:p.Met2482Thr
ENST00000278616.8:c.7445T>C (ATM)	ENSP00000278616.4:p.Met2482Thr
ENST00000452508.6:c.7445T>C (ATM)	ENSP00000388058.2:p.Met2482Thr
ENST00000524792.5:n.3660T>C (ATM)
ENST00000525729.5:c.641-21280A>G (C11orf65)	ENSP00000433395.1:n.641-21280A>G
ENST00000533690.5:n.2849T>C (ATM)
NM_000051.3:c.7445T>C , LRG_135t1:c.7445T>C (ATM)	NP_000042.3:p.Met2482Thr
XM_005271561.3:c.7445T>C (ATM)	XP_005271618.2:p.Met2482Thr
XM_005271562.3:c.7445T>C (ATM)	XP_005271619.2:p.Met2482Thr
XM_006718843.2:c.7445T>C (ATM)	XP_006718906.1:p.Met2482Thr
XM_006718845.1:c.3401T>C (ATM)	XP_006718908.1:p.Met1134Thr
XM_011542840.1:c.7445T>C (ATM)	XP_011541142.1:p.Met2482Thr
XM_011542841.1:c.7445T>C (ATM)	XP_011541143.1:p.Met2482Thr
XM_011542842.1:c.7280T>C (ATM)	XP_011541144.1:p.Met2427Thr
XM_011542843.1:c.7445T>C (ATM)	XP_011541145.1:p.Met2482Thr
XM_011542844.1:c.6401T>C (ATM)	XP_011541146.1:p.Met2134Thr
XM_011542845.1:c.6137T>C (ATM)	XP_011541147.1:p.Met2046Thr
XM_011542847.1:c.2516T>C (ATM)	XP_011541149.1:p.Met839Thr
NM_001330368.1:c.641-21280A>G (C11orf65)	NP_001317297.1:n.641-21280A>G
NM_001351110.1:c.*38+4869A>G (C11orf65)	NP_001338039.1:n.*38+4869A>G
NM_001351834.1:c.7445T>C (ATM)	NP_001338763.1:p.Met2482Thr
XM_005271562.5:c.7445T>C (ATM)	XP_005271619.2:p.Met2482Thr
XM_006718843.4:c.7445T>C (ATM)	XP_006718906.1:p.Met2482Thr
XM_006718845.2:c.3401T>C (ATM)	XP_006718908.1:p.Met1134Thr
XM_011542840.3:c.7445T>C (ATM)	XP_011541142.1:p.Met2482Thr
XM_011542842.3:c.7280T>C (ATM)	XP_011541144.1:p.Met2427Thr
XM_011542843.2:c.7445T>C (ATM)	XP_011541145.1:p.Met2482Thr
XM_011542844.3:c.6401T>C (ATM)	XP_011541146.1:p.Met2134Thr
XM_011542845.2:c.6137T>C (ATM)	XP_011541147.1:p.Met2046Thr
XM_017017789.2:c.7445T>C (ATM)	XP_016873278.1:p.Met2482Thr
XM_017017790.2:c.7445T>C (ATM)	XP_016873279.1:p.Met2482Thr
NM_001330368.2:c.641-21280A>G (C11orf65)	NP_001317297.1:n.641-21280A>G
NM_001351110.2:c.*38+4869A>G (C11orf65)	NP_001338039.1:n.*38+4869A>G
NM_001351834.2:c.7445T>C (ATM)	NP_001338763.1:p.Met2482Thr
NM_000051.4:c.7445T>C (ATM) MANE Select	NP_000042.3:p.Met2482Thr