Canonical Allele Identifier: CA382544245

Gene: ATM

Linked Data

• dbSNP Id: rs2135930349
• MyVariant Identifiers: chr11:g.108173715A>C (hg19) ; chr11:g.108302988A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302988A>C , CM000673.2:g.108302988A>C	GRCh38
NC_000011.9:g.108173715A>C , CM000673.1:g.108173715A>C	GRCh37
NC_000011.8:g.107678925A>C	NCBI36
NG_009830.1:g.85157A>C , LRG_135:g.85157A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5455A>C	ENSP00000388058.2:p.Thr1819Pro
ENST00000713593.1:c.*4926A>C	ENSP00000518889.1:n.*4926A>C
ENST00000278616.9:c.5455A>C	ENSP00000278616.4:p.Thr1819Pro
ENST00000683174.1:n.6939A>C
ENST00000683524.1:n.679A>C
ENST00000684152.1:n.1169A>C
ENST00000527805.6:c.*519A>C	ENSP00000435747.2:n.*519A>C
ENST00000675595.1:c.*519A>C	ENSP00000502563.1:n.*519A>C
ENST00000675843.1:c.5455A>C MANE Select	ENSP00000501606.1:p.Thr1819Pro
ENST00000278616.8:c.5455A>C	ENSP00000278616.4:p.Thr1819Pro
ENST00000452508.6:c.5455A>C	ENSP00000388058.2:p.Thr1819Pro
ENST00000524792.5:n.1670A>C
ENST00000533690.5:n.859A>C
ENST00000534625.1:n.684A>C
NM_000051.3:c.5455A>C , LRG_135t1:c.5455A>C	NP_000042.3:p.Thr1819Pro
XM_005271561.3:c.5455A>C	XP_005271618.2:p.Thr1819Pro
XM_005271562.3:c.5455A>C	XP_005271619.2:p.Thr1819Pro
XM_006718843.2:c.5455A>C	XP_006718906.1:p.Thr1819Pro
XM_006718845.1:c.1411A>C	XP_006718908.1:p.Thr471Pro
XM_011542840.1:c.5455A>C	XP_011541142.1:p.Thr1819Pro
XM_011542841.1:c.5455A>C	XP_011541143.1:p.Thr1819Pro
XM_011542842.1:c.5290A>C	XP_011541144.1:p.Thr1764Pro
XM_011542843.1:c.5455A>C	XP_011541145.1:p.Thr1819Pro
XM_011542844.1:c.4411A>C	XP_011541146.1:p.Thr1471Pro
XM_011542845.1:c.4147A>C	XP_011541147.1:p.Thr1383Pro
XM_011542847.1:c.526A>C	XP_011541149.1:p.Thr176Pro
NM_001351834.1:c.5455A>C	NP_001338763.1:p.Thr1819Pro
XM_005271562.5:c.5455A>C	XP_005271619.2:p.Thr1819Pro
XM_006718843.4:c.5455A>C	XP_006718906.1:p.Thr1819Pro
XM_006718845.2:c.1411A>C	XP_006718908.1:p.Thr471Pro
XM_011542840.3:c.5455A>C	XP_011541142.1:p.Thr1819Pro
XM_011542842.3:c.5290A>C	XP_011541144.1:p.Thr1764Pro
XM_011542843.2:c.5455A>C	XP_011541145.1:p.Thr1819Pro
XM_011542844.3:c.4411A>C	XP_011541146.1:p.Thr1471Pro
XM_011542845.2:c.4147A>C	XP_011541147.1:p.Thr1383Pro
XM_017017789.2:c.5455A>C	XP_016873278.1:p.Thr1819Pro
XM_017017790.2:c.5455A>C	XP_016873279.1:p.Thr1819Pro
XM_017017791.1:c.5455A>C	XP_016873280.1:p.Thr1819Pro
XR_002957150.1:n.6055A>C
NM_001351834.2:c.5455A>C	NP_001338763.1:p.Thr1819Pro
NM_000051.4:c.5455A>C MANE Select	NP_000042.3:p.Thr1819Pro