Canonical Allele Identifier: CA376076102

Gene: DCLRE1C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14909172C>A , CM000672.2:g.14909172C>A	GRCh38
NC_000010.10:g.14951171C>A , CM000672.1:g.14951171C>A	GRCh37
NC_000010.9:g.14991177C>A	NCBI36
NG_007276.1:g.49924G>T , LRG_54:g.49924G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001033855.3:c.1315G>T MANE Select	NP_001029027.1:p.Glu439Ter
ENST00000378278.7:c.1315G>T MANE Select	ENSP00000367527.2:p.Glu439Ter
NM_001033855.2:c.1315G>T	NP_001029027.1:p.Glu439Ter
NM_001033857.2:c.955G>T	NP_001029029.1:p.Glu319Ter
NM_001033857.3:c.955G>T	NP_001029029.1:p.Glu319Ter
NM_001033858.2:c.955G>T	NP_001029030.1:p.Glu319Ter
NM_001033858.3:c.955G>T	NP_001029030.1:p.Glu319Ter
NM_001289076.1:c.970G>T	NP_001276005.1:p.Glu324Ter
NM_001289076.2:c.970G>T	NP_001276005.1:p.Glu324Ter
NM_001289077.1:c.955G>T	NP_001276006.1:p.Glu319Ter
NM_001289077.2:c.955G>T	NP_001276006.1:p.Glu319Ter
NM_001289078.1:c.970G>T	NP_001276007.1:p.Glu324Ter
NM_001289078.2:c.970G>T	NP_001276007.1:p.Glu324Ter
NM_001289079.1:c.955G>T	NP_001276008.1:p.Glu319Ter
NM_001289079.2:c.955G>T	NP_001276008.1:p.Glu319Ter
NM_001350965.1:c.1315G>T	NP_001337894.1:p.Glu439Ter
NM_001350965.2:c.1315G>T	NP_001337894.1:p.Glu439Ter
NM_001350966.1:c.970G>T	NP_001337895.1:p.Glu324Ter
NM_001350966.2:c.970G>T	NP_001337895.1:p.Glu324Ter
NM_001350967.1:c.955G>T	NP_001337896.1:p.Glu319Ter
NM_001350967.2:c.955G>T	NP_001337896.1:p.Glu319Ter
NM_022487.3:c.970G>T	NP_071932.2:p.Glu324Ter
NM_022487.4:c.970G>T	NP_071932.2:p.Glu324Ter
NR_110297.1:n.2090G>T
NR_110297.2:n.1754G>T
NR_146960.1:n.1682G>T
NR_146961.1:n.1831G>T
NR_146961.2:n.1495G>T
NR_146962.1:n.1802G>T
ENST00000357717.6:c.970G>T	ENSP00000350349.2:p.Glu324Ter
ENST00000378241.6:c.*1503G>T	ENSP00000367487.3:n.*1503G>T
ENST00000378242.1:c.274G>T	ENSP00000367488.1:p.Glu92Ter
ENST00000378246.6:c.970G>T	ENSP00000367492.2:p.Glu324Ter
ENST00000378249.5:c.970G>T	ENSP00000367496.1:p.Glu324Ter
ENST00000378254.5:c.955G>T	ENSP00000367502.1:p.Glu319Ter
ENST00000378255.5:c.955G>T	ENSP00000367503.1:p.Glu319Ter
ENST00000378258.5:c.955G>T	ENSP00000367506.1:p.Glu319Ter
ENST00000378278.6:c.1315G>T	ENSP00000367527.2:p.Glu439Ter
ENST00000378289.8:c.1157-9860G>T	ENSP00000367538.4:n.1157-9860G>T
ENST00000396817.6:c.955G>T	ENSP00000380030.2:p.Glu319Ter
ENST00000456122.2:c.*1343-9860G>T	ENSP00000413180.3:n.*1343-9860G>T
ENST00000489161.2:c.*1038G>T	ENSP00000513000.2:n.*1038G>T
ENST00000489845.1:n.292G>T
ENST00000492201.5:n.530G>T
ENST00000492201.6:c.*309G>T	ENSP00000512999.1:n.*309G>T
ENST00000697047.1:c.1315G>T	ENSP00000513066.1:p.Glu439Ter
ENST00000697070.1:c.1315G>T	ENSP00000513085.1:p.Glu439Ter
ENST00000697071.1:c.*1235G>T	ENSP00000513086.1:n.*1235G>T
ENST00000697072.1:c.*327G>T	ENSP00000513087.1:n.*327G>T
ENST00000697073.1:c.*1093G>T	ENSP00000513088.2:n.*1093G>T
ENST00000697074.1:c.*1093G>T	ENSP00000513089.2:n.*1093G>T
ENST00000697075.1:c.1315G>T	ENSP00000513090.1:p.Glu439Ter
ENST00000697076.1:c.*327G>T	ENSP00000513091.1:n.*327G>T
ENST00000697077.1:c.*1026G>T	ENSP00000513092.1:n.*1026G>T
ENST00000697078.1:c.*1022G>T	ENSP00000513093.1:n.*1022G>T
ENST00000697079.1:n.1019G>T
ENST00000697080.1:c.*1179G>T	ENSP00000513094.1:n.*1179G>T
ENST00000697081.1:c.*1073G>T	ENSP00000513095.1:n.*1073G>T
ENST00000697082.1:c.*1344G>T	ENSP00000513096.1:n.*1344G>T
ENST00000697083.1:c.*1120G>T	ENSP00000513097.1:n.*1120G>T
ENST00000697084.1:c.1372G>T	ENSP00000513098.1:p.Glu458Ter
ENST00000697085.1:c.*1082G>T	ENSP00000513099.1:n.*1082G>T
ENST00000697086.1:n.3891G>T
XM_006717491.2:c.970G>T	XP_006717554.1:p.Glu324Ter
XM_006717491.4:c.970G>T	XP_006717554.1:p.Glu324Ter
XM_011519616.1:c.970G>T	XP_011517918.1:p.Glu324Ter
XM_011519617.1:c.970G>T	XP_011517919.1:p.Glu324Ter
XM_011519618.1:c.970G>T	XP_011517920.1:p.Glu324Ter
XM_011519619.1:c.955G>T	XP_011517921.1:p.Glu319Ter
XM_017016557.1:c.970G>T	XP_016872046.1:p.Glu324Ter
XM_017016558.1:c.955G>T	XP_016872047.1:p.Glu319Ter
XM_024448134.1:c.955G>T	XP_024303902.1:p.Glu319Ter
XM_024448135.1:c.970G>T	XP_024303903.1:p.Glu324Ter
XR_001747185.2:n.1604G>T
XR_001747187.1:n.1436G>T