Canonical Allele Identifier: CA5721601

Gene: ATE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121902458T>A , CM000672.2:g.121902458T>A	GRCh38
NC_000010.10:g.123661973T>A , CM000672.1:g.123661973T>A	GRCh37
NC_000010.9:g.123651963T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001001976.3:c.746A>T MANE Select	NP_001001976.1:p.Asn249Ile
ENST00000224652.12:c.746A>T MANE Select	ENSP00000224652.6:p.Asn249Ile
NM_001001976.2:c.746A>T	NP_001001976.1:p.Asn249Ile
NM_001288734.1:c.401A>T	NP_001275663.1:p.Asn134Ile
NM_001288734.2:c.401A>T	NP_001275663.1:p.Asn134Ile
NM_001288735.1:c.458A>T	NP_001275664.1:p.Asn153Ile
NM_001288735.2:c.458A>T	NP_001275664.1:p.Asn153Ile
NM_001288736.1:c.725A>T	NP_001275665.1:p.Asn242Ile
NM_001288736.2:c.725A>T	NP_001275665.1:p.Asn242Ile
NM_007041.3:c.746A>T	NP_008972.2:p.Asn249Ile
NM_007041.4:c.746A>T	NP_008972.2:p.Asn249Ile
NR_110006.1:n.870-2464A>T
NR_110006.2:n.532-2464A>T
ENST00000224652.10:c.746A>T	ENSP00000224652.6:p.Asn249Ile
ENST00000224652.11:c.746A>T	ENSP00000224652.6:p.Asn249Ile
ENST00000369040.7:c.458A>T	ENSP00000358036.3:p.Asn153Ile
ENST00000369040.8:c.746A>T	ENSP00000358036.4:p.Asn249Ile
ENST00000369040.9:c.746A>T	ENSP00000358036.4:p.Asn249Ile
ENST00000369043.7:c.746A>T	ENSP00000358039.3:p.Asn249Ile
ENST00000369043.8:c.746A>T	ENSP00000358039.3:p.Asn249Ile
ENST00000423243.5:c.735A>T
ENST00000423243.6:c.*463A>T	ENSP00000397787.2:n.*463A>T
ENST00000423243.7:c.*463A>T	ENSP00000397787.2:n.*463A>T
ENST00000481784.1:n.81A>T
ENST00000540606.5:c.725A>T	ENSP00000440881.1:p.Asn242Ile
ENST00000540606.6:c.725A>T	ENSP00000440881.1:p.Asn242Ile
ENST00000540606.7:c.725A>T	ENSP00000440881.1:p.Asn242Ile
ENST00000543447.5:c.401A>T	ENSP00000444852.1:p.Asn134Ile
ENST00000684876.1:c.*405A>T	ENSP00000509855.1:n.*405A>T
ENST00000684967.1:c.396A>T	ENSP00000508860.1:n.396A>T
ENST00000685007.1:c.746A>T	ENSP00000508990.1:p.Asn249Ile
ENST00000685072.1:c.746A>T	ENSP00000510276.1:p.Asn249Ile
ENST00000685289.1:c.638A>T	ENSP00000508767.1:p.Asn213Ile
ENST00000685427.1:c.583+8448A>T	ENSP00000509070.1:n.583+8448A>T
ENST00000685890.1:c.746A>T	ENSP00000509513.1:p.Asn249Ile
ENST00000686451.1:c.*463A>T	ENSP00000508510.1:n.*463A>T
ENST00000686786.1:c.642A>T	ENSP00000510158.1:n.642A>T
ENST00000686811.1:c.*405A>T	ENSP00000509838.1:n.*405A>T
ENST00000686894.1:c.*463A>T	ENSP00000508873.1:n.*463A>T
ENST00000686907.1:c.638A>T	ENSP00000510093.1:p.Asn213Ile
ENST00000687089.1:c.746A>T	ENSP00000510151.1:p.Asn249Ile
ENST00000687144.1:c.-274+25045A>T	ENSP00000508536.1:n.-274+25045A>T
ENST00000687206.1:c.746A>T	ENSP00000509919.1:p.Asn249Ile
ENST00000687251.1:c.638A>T	ENSP00000509863.1:p.Asn213Ile
ENST00000687319.1:c.579A>T	ENSP00000509827.1:n.579A>T
ENST00000687458.1:c.746A>T	ENSP00000509243.1:p.Asn249Ile
ENST00000687583.1:c.683A>T	ENSP00000508433.1:p.Asn228Ile
ENST00000687607.1:c.233+19891A>T	ENSP00000510186.1:n.233+19891A>T
ENST00000687935.1:c.638A>T	ENSP00000510701.1:p.Asn213Ile
ENST00000688057.1:c.683A>T	ENSP00000510446.1:p.Asn228Ile
ENST00000688424.1:c.106+25386A>T	ENSP00000509454.1:n.106+25386A>T
ENST00000688526.1:c.725A>T	ENSP00000510389.1:p.Asn242Ile
ENST00000689057.1:c.638A>T	ENSP00000509905.1:p.Asn213Ile
ENST00000689297.1:c.583+8448A>T	ENSP00000509194.1:n.583+8448A>T
ENST00000689393.1:c.638A>T	ENSP00000509487.1:p.Asn213Ile
ENST00000689455.1:c.*405A>T	ENSP00000509256.1:n.*405A>T
ENST00000689571.1:c.725A>T	ENSP00000509590.1:p.Asn242Ile
ENST00000689704.1:n.734A>T
ENST00000689834.1:c.85+25889A>T	ENSP00000510230.1:n.85+25889A>T
ENST00000690128.1:c.85+25889A>T	ENSP00000508780.1:n.85+25889A>T
ENST00000690324.1:c.480-3489A>T	ENSP00000510284.1:n.480-3489A>T
ENST00000690355.1:c.746A>T	ENSP00000510433.1:p.Asn249Ile
ENST00000690415.1:c.746A>T	ENSP00000509607.1:p.Asn249Ile
ENST00000690488.1:c.*463A>T	ENSP00000508716.1:n.*463A>T
ENST00000690706.1:c.*405A>T	ENSP00000508994.1:n.*405A>T
ENST00000690748.1:c.725A>T	ENSP00000510080.1:p.Asn242Ile
ENST00000690773.1:c.494A>T	ENSP00000509670.1:p.Asn165Ile
ENST00000691041.1:c.500-2464A>T	ENSP00000509064.1:n.500-2464A>T
ENST00000691087.1:c.746A>T	ENSP00000510049.1:p.Asn249Ile
ENST00000691108.1:c.*6A>T	ENSP00000510097.1:n.*6A>T
ENST00000691226.1:c.106+25386A>T	ENSP00000510406.1:n.106+25386A>T
ENST00000691573.1:c.638A>T	ENSP00000508420.1:p.Asn213Ile
ENST00000691765.1:c.746A>T	ENSP00000509363.1:p.Asn249Ile
ENST00000691830.1:c.746A>T	ENSP00000509345.1:p.Asn249Ile
ENST00000692034.1:n.141+25889A>T
ENST00000692087.1:c.583+8448A>T	ENSP00000508850.1:n.583+8448A>T
ENST00000692255.1:c.*300+8448A>T	ENSP00000510575.1:n.*300+8448A>T
ENST00000692278.1:c.638A>T	ENSP00000510033.1:p.Asn213Ile
ENST00000692329.1:c.638A>T	ENSP00000508735.1:p.Asn213Ile
ENST00000692491.1:c.*242+8448A>T	ENSP00000508429.1:n.*242+8448A>T
ENST00000692513.1:c.584-3489A>T	ENSP00000509908.1:n.584-3489A>T
ENST00000692718.1:c.*463A>T	ENSP00000509984.1:n.*463A>T
ENST00000692743.1:c.*242+8448A>T	ENSP00000510485.1:n.*242+8448A>T
ENST00000693276.1:c.515A>T	ENSP00000509714.1:p.Asn172Ile
ENST00000693395.1:c.106+25386A>T	ENSP00000508971.1:n.106+25386A>T
ENST00000693411.1:c.638A>T	ENSP00000508941.1:p.Asn213Ile
ENST00000693486.1:c.746A>T	ENSP00000510184.1:p.Asn249Ile
ENST00000693655.1:c.-241+25889A>T	ENSP00000509079.1:n.-241+25889A>T
XM_005269458.1:c.746A>T	XP_005269515.1:p.Asn249Ile
XM_005269458.3:c.746A>T	XP_005269515.1:p.Asn249Ile
XM_005269459.2:c.725A>T	XP_005269516.1:p.Asn242Ile
XM_005269459.3:c.725A>T	XP_005269516.1:p.Asn242Ile
XM_011539183.1:c.548A>T	XP_011537485.1:p.Asn183Ile
XM_017015597.1:c.548A>T	XP_016871086.1:p.Asn183Ile
XM_017015598.2:c.725A>T	XP_016871087.1:p.Asn242Ile
XM_017015599.2:c.746A>T	XP_016871088.1:p.Asn249Ile
XM_017015600.1:c.401A>T	XP_016871089.1:p.Asn134Ile
XM_017015601.2:c.548A>T	XP_016871090.1:p.Asn183Ile
XM_017015602.1:c.401A>T	XP_016871091.1:p.Asn134Ile
XM_017015603.1:c.548A>T	XP_016871092.1:p.Asn183Ile
XM_017015604.1:c.401A>T	XP_016871093.1:p.Asn134Ile