Canonical Allele Identifier: CA382554356

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 921014
• ClinVar RCV Id: RCV001180156
• dbSNP Id: rs779611511
• MyVariant Identifiers: chr11:g.108192129T>A (hg19) ; chr11:g.108321402T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321402T>A , CM000673.2:g.108321402T>A	GRCh38
NC_000011.9:g.108192129T>A , CM000673.1:g.108192129T>A	GRCh37
NC_000011.8:g.107697339T>A	NCBI36
NG_009830.1:g.103571T>A , LRG_135:g.103571T>A
NG_054724.1:g.153431A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6554T>A (ATM)	ENSP00000388058.2:p.Ile2185Asn
ENST00000713593.1:c.*6025T>A (ATM)	ENSP00000518889.1:n.*6025T>A
ENST00000278616.9:c.6554T>A (ATM)	ENSP00000278616.4:p.Ile2185Asn
ENST00000525056.2:n.973T>A (ATM)
ENST00000682286.1:n.1311T>A (ATM)
ENST00000682302.1:n.972T>A (ATM)
ENST00000683174.1:n.8038T>A (ATM)
ENST00000683524.1:n.1778T>A (ATM)
ENST00000684152.1:n.2268T>A (ATM)
ENST00000527805.6:c.*1618T>A (ATM)	ENSP00000435747.2:n.*1618T>A
ENST00000675595.1:c.*1689T>A (ATM)	ENSP00000502563.1:n.*1689T>A
ENST00000675843.1:c.6554T>A (ATM) MANE Select	ENSP00000501606.1:p.Ile2185Asn
ENST00000278616.8:c.6554T>A (ATM)	ENSP00000278616.4:p.Ile2185Asn
ENST00000452508.6:c.6554T>A (ATM)	ENSP00000388058.2:p.Ile2185Asn
ENST00000524792.5:n.2769T>A (ATM)
ENST00000525729.5:c.641-12331A>T (C11orf65)	ENSP00000433395.1:n.641-12331A>T
ENST00000533690.5:n.1958T>A (ATM)
NM_000051.3:c.6554T>A , LRG_135t1:c.6554T>A (ATM)	NP_000042.3:p.Ile2185Asn
XM_005271561.3:c.6554T>A (ATM)	XP_005271618.2:p.Ile2185Asn
XM_005271562.3:c.6554T>A (ATM)	XP_005271619.2:p.Ile2185Asn
XM_006718843.2:c.6554T>A (ATM)	XP_006718906.1:p.Ile2185Asn
XM_006718845.1:c.2510T>A (ATM)	XP_006718908.1:p.Ile837Asn
XM_011542840.1:c.6554T>A (ATM)	XP_011541142.1:p.Ile2185Asn
XM_011542841.1:c.6554T>A (ATM)	XP_011541143.1:p.Ile2185Asn
XM_011542842.1:c.6389T>A (ATM)	XP_011541144.1:p.Ile2130Asn
XM_011542843.1:c.6554T>A (ATM)	XP_011541145.1:p.Ile2185Asn
XM_011542844.1:c.5510T>A (ATM)	XP_011541146.1:p.Ile1837Asn
XM_011542845.1:c.5246T>A (ATM)	XP_011541147.1:p.Ile1749Asn
XM_011542847.1:c.1625T>A (ATM)	XP_011541149.1:p.Ile542Asn
NM_001330368.1:c.641-12331A>T (C11orf65)	NP_001317297.1:n.641-12331A>T
NM_001351110.1:c.*39-12331A>T (C11orf65)	NP_001338039.1:n.*39-12331A>T
NM_001351834.1:c.6554T>A (ATM)	NP_001338763.1:p.Ile2185Asn
XM_005271562.5:c.6554T>A (ATM)	XP_005271619.2:p.Ile2185Asn
XM_006718843.4:c.6554T>A (ATM)	XP_006718906.1:p.Ile2185Asn
XM_006718845.2:c.2510T>A (ATM)	XP_006718908.1:p.Ile837Asn
XM_011542840.3:c.6554T>A (ATM)	XP_011541142.1:p.Ile2185Asn
XM_011542842.3:c.6389T>A (ATM)	XP_011541144.1:p.Ile2130Asn
XM_011542843.2:c.6554T>A (ATM)	XP_011541145.1:p.Ile2185Asn
XM_011542844.3:c.5510T>A (ATM)	XP_011541146.1:p.Ile1837Asn
XM_011542845.2:c.5246T>A (ATM)	XP_011541147.1:p.Ile1749Asn
XM_017017789.2:c.6554T>A (ATM)	XP_016873278.1:p.Ile2185Asn
XM_017017790.2:c.6554T>A (ATM)	XP_016873279.1:p.Ile2185Asn
NM_001330368.2:c.641-12331A>T (C11orf65)	NP_001317297.1:n.641-12331A>T
NM_001351110.2:c.*39-12331A>T (C11orf65)	NP_001338039.1:n.*39-12331A>T
NM_001351834.2:c.6554T>A (ATM)	NP_001338763.1:p.Ile2185Asn
NM_000051.4:c.6554T>A (ATM) MANE Select	NP_000042.3:p.Ile2185Asn