Canonical Allele Identifier: CA382549949

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1024465
• ClinVar RCV Id: RCV001324649
• dbSNP Id: rs2084588823
• MyVariant Identifiers: chr11:g.108186587C>T (hg19) ; chr11:g.108315860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315860C>T , CM000673.2:g.108315860C>T	GRCh38
NC_000011.9:g.108186587C>T , CM000673.1:g.108186587C>T	GRCh37
NC_000011.8:g.107691797C>T	NCBI36
NG_009830.1:g.98029C>T , LRG_135:g.98029C>T
NG_054724.1:g.158973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6044C>T (ATM)	ENSP00000388058.2:p.Pro2015Leu
ENST00000713593.1:c.*5515C>T (ATM)	ENSP00000518889.1:n.*5515C>T
ENST00000278616.9:c.6044C>T (ATM)	ENSP00000278616.4:p.Pro2015Leu
ENST00000525056.2:n.463C>T (ATM)
ENST00000682286.1:n.801C>T (ATM)
ENST00000682302.1:n.462C>T (ATM)
ENST00000683174.1:n.7528C>T (ATM)
ENST00000683524.1:n.1268C>T (ATM)
ENST00000684152.1:n.1758C>T (ATM)
ENST00000527805.6:c.*1108C>T (ATM)	ENSP00000435747.2:n.*1108C>T
ENST00000675595.1:c.*1108C>T (ATM)	ENSP00000502563.1:n.*1108C>T
ENST00000675843.1:c.6044C>T (ATM) MANE Select	ENSP00000501606.1:p.Pro2015Leu
ENST00000278616.8:c.6044C>T (ATM)	ENSP00000278616.4:p.Pro2015Leu
ENST00000452508.6:c.6044C>T (ATM)	ENSP00000388058.2:p.Pro2015Leu
ENST00000524792.5:n.2259C>T (ATM)
ENST00000525729.5:c.641-6789G>A (C11orf65)	ENSP00000433395.1:n.641-6789G>A
ENST00000529588.5:c.468C>T (ATM)
ENST00000532765.1:n.361C>T (ATM)
ENST00000533690.5:n.1448C>T (ATM)
NM_000051.3:c.6044C>T , LRG_135t1:c.6044C>T (ATM)	NP_000042.3:p.Pro2015Leu
XM_005271561.3:c.6044C>T (ATM)	XP_005271618.2:p.Pro2015Leu
XM_005271562.3:c.6044C>T (ATM)	XP_005271619.2:p.Pro2015Leu
XM_006718843.2:c.6044C>T (ATM)	XP_006718906.1:p.Pro2015Leu
XM_006718845.1:c.2000C>T (ATM)	XP_006718908.1:p.Pro667Leu
XM_011542840.1:c.6044C>T (ATM)	XP_011541142.1:p.Pro2015Leu
XM_011542841.1:c.6044C>T (ATM)	XP_011541143.1:p.Pro2015Leu
XM_011542842.1:c.5879C>T (ATM)	XP_011541144.1:p.Pro1960Leu
XM_011542843.1:c.6044C>T (ATM)	XP_011541145.1:p.Pro2015Leu
XM_011542844.1:c.5000C>T (ATM)	XP_011541146.1:p.Pro1667Leu
XM_011542845.1:c.4736C>T (ATM)	XP_011541147.1:p.Pro1579Leu
XM_011542847.1:c.1115C>T (ATM)	XP_011541149.1:p.Pro372Leu
NM_001330368.1:c.641-6789G>A (C11orf65)	NP_001317297.1:n.641-6789G>A
NM_001351110.1:c.*39-6789G>A (C11orf65)	NP_001338039.1:n.*39-6789G>A
NM_001351834.1:c.6044C>T (ATM)	NP_001338763.1:p.Pro2015Leu
XM_005271562.5:c.6044C>T (ATM)	XP_005271619.2:p.Pro2015Leu
XM_006718843.4:c.6044C>T (ATM)	XP_006718906.1:p.Pro2015Leu
XM_006718845.2:c.2000C>T (ATM)	XP_006718908.1:p.Pro667Leu
XM_011542840.3:c.6044C>T (ATM)	XP_011541142.1:p.Pro2015Leu
XM_011542842.3:c.5879C>T (ATM)	XP_011541144.1:p.Pro1960Leu
XM_011542843.2:c.6044C>T (ATM)	XP_011541145.1:p.Pro2015Leu
XM_011542844.3:c.5000C>T (ATM)	XP_011541146.1:p.Pro1667Leu
XM_011542845.2:c.4736C>T (ATM)	XP_011541147.1:p.Pro1579Leu
XM_017017789.2:c.6044C>T (ATM)	XP_016873278.1:p.Pro2015Leu
XM_017017790.2:c.6044C>T (ATM)	XP_016873279.1:p.Pro2015Leu
XM_017017791.1:c.6044C>T (ATM)	XP_016873280.1:p.Pro2015Leu
NM_001330368.2:c.641-6789G>A (C11orf65)	NP_001317297.1:n.641-6789G>A
NM_001351110.2:c.*39-6789G>A (C11orf65)	NP_001338039.1:n.*39-6789G>A
NM_001351834.2:c.6044C>T (ATM)	NP_001338763.1:p.Pro2015Leu
NM_000051.4:c.6044C>T (ATM) MANE Select	NP_000042.3:p.Pro2015Leu