Canonical Allele Identifier: CA376064481

Gene: DCLRE1C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14949057A>T , CM000672.2:g.14949057A>T	GRCh38
NC_000010.10:g.14991056A>T , CM000672.1:g.14991056A>T	GRCh37
NC_000010.9:g.15031062A>T	NCBI36
NG_007276.1:g.10039T>A , LRG_54:g.10039T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001033855.3:c.140T>A MANE Select	NP_001029027.1:p.Leu47Ter
ENST00000378278.7:c.140T>A MANE Select	ENSP00000367527.2:p.Leu47Ter
NM_001033855.2:c.140T>A	NP_001029027.1:p.Leu47Ter
NM_001033857.2:c.-306T>A	NP_001029029.1:n.-306T>A
NM_001033857.3:c.-306T>A	NP_001029029.1:n.-306T>A
NM_001033858.2:c.-628T>A	NP_001029030.1:n.-628T>A
NM_001033858.3:c.-628T>A	NP_001029030.1:n.-628T>A
NM_001289076.1:c.-65T>A	NP_001276005.1:n.-65T>A
NM_001289076.2:c.-65T>A	NP_001276005.1:n.-65T>A
NM_001289077.1:c.-352T>A	NP_001276006.1:n.-352T>A
NM_001289077.2:c.-352T>A	NP_001276006.1:n.-352T>A
NM_001289078.1:c.-128-3868T>A	NP_001276007.1:n.-128-3868T>A
NM_001289078.2:c.-128-3868T>A	NP_001276007.1:n.-128-3868T>A
NM_001289079.1:c.-674T>A	NP_001276008.1:n.-674T>A
NM_001289079.2:c.-674T>A	NP_001276008.1:n.-674T>A
NM_001350965.1:c.140T>A	NP_001337894.1:p.Leu47Ter
NM_001350965.2:c.140T>A	NP_001337894.1:p.Leu47Ter
NM_001350966.1:c.-128-3868T>A	NP_001337895.1:n.-128-3868T>A
NM_001350966.2:c.-128-3868T>A	NP_001337895.1:n.-128-3868T>A
NM_001350967.1:c.-306T>A	NP_001337896.1:n.-306T>A
NM_001350967.2:c.-306T>A	NP_001337896.1:n.-306T>A
NM_022487.3:c.-150T>A	NP_071932.2:n.-150T>A
NM_022487.4:c.-150T>A	NP_071932.2:n.-150T>A
NR_110297.1:n.562T>A
NR_110297.2:n.226T>A
NR_146960.1:n.562T>A
NR_146961.1:n.562T>A
NR_146961.2:n.226T>A
NR_146962.1:n.562T>A
ENST00000357717.6:c.-65T>A	ENSP00000350349.2:n.-65T>A
ENST00000378241.5:c.-433T>A	ENSP00000367487.1:n.-433T>A
ENST00000378241.6:c.140T>A	ENSP00000367487.3:p.Leu47Ter
ENST00000378246.6:c.-150T>A	ENSP00000367492.2:n.-150T>A
ENST00000378249.5:c.-128-3868T>A	ENSP00000367496.1:n.-128-3868T>A
ENST00000378254.5:c.-352T>A	ENSP00000367502.1:n.-352T>A
ENST00000378255.5:c.-674T>A	ENSP00000367503.1:n.-674T>A
ENST00000378258.5:c.-306T>A	ENSP00000367506.1:n.-306T>A
ENST00000378278.6:c.140T>A	ENSP00000367527.2:p.Leu47Ter
ENST00000378289.8:c.140T>A	ENSP00000367538.4:p.Leu47Ter
ENST00000396817.6:c.-628T>A	ENSP00000380030.2:n.-628T>A
ENST00000418843.5:c.-389T>A	ENSP00000391428.1:n.-389T>A
ENST00000456122.1:c.-557T>A	ENSP00000413180.1:n.-557T>A
ENST00000456122.2:c.140T>A	ENSP00000413180.3:p.Leu47Ter
ENST00000489161.2:c.110-3868T>A	ENSP00000513000.2:n.110-3868T>A
ENST00000492201.6:c.140T>A	ENSP00000512999.1:p.Leu47Ter
ENST00000697047.1:c.140T>A	ENSP00000513066.1:p.Leu47Ter
ENST00000697070.1:c.140T>A	ENSP00000513085.1:p.Leu47Ter
ENST00000697071.1:c.140T>A	ENSP00000513086.1:p.Leu47Ter
ENST00000697072.1:c.140T>A	ENSP00000513087.1:p.Leu47Ter
ENST00000697073.1:c.110-3868T>A	ENSP00000513088.2:n.110-3868T>A
ENST00000697074.1:c.110-3868T>A	ENSP00000513089.2:n.110-3868T>A
ENST00000697075.1:c.140T>A	ENSP00000513090.1:p.Leu47Ter
ENST00000697076.1:c.140T>A	ENSP00000513091.1:p.Leu47Ter
ENST00000697077.1:c.140T>A	ENSP00000513092.1:p.Leu47Ter
ENST00000697078.1:c.140T>A	ENSP00000513093.1:p.Leu47Ter
ENST00000697080.1:c.140T>A	ENSP00000513094.1:p.Leu47Ter
ENST00000697081.1:c.140T>A	ENSP00000513095.1:p.Leu47Ter
ENST00000697082.1:c.140T>A	ENSP00000513096.1:p.Leu47Ter
ENST00000697083.1:c.140T>A	ENSP00000513097.1:p.Leu47Ter
ENST00000697084.1:c.140T>A	ENSP00000513098.1:p.Leu47Ter
ENST00000697085.1:c.140T>A	ENSP00000513099.1:p.Leu47Ter
ENST00000697086.1:n.2361T>A
ENST00000697087.1:c.140T>A	ENSP00000513100.1:p.Leu47Ter
ENST00000697088.1:c.140T>A	ENSP00000513101.1:p.Leu47Ter
ENST00000697089.1:c.140T>A	ENSP00000513102.1:p.Leu47Ter
ENST00000697090.1:n.63T>A
ENST00000697091.1:n.201T>A
XM_006717491.2:c.-281T>A	XP_006717554.1:n.-281T>A
XM_006717491.4:c.-281T>A	XP_006717554.1:n.-281T>A
XM_011519616.1:c.-235T>A	XP_011517918.1:n.-235T>A
XM_011519617.1:c.-366T>A	XP_011517919.1:n.-366T>A
XM_011519618.1:c.-493T>A	XP_011517920.1:n.-493T>A
XM_011519619.1:c.-437T>A	XP_011517921.1:n.-437T>A
XM_011519620.1:c.140T>A	XP_011517922.1:p.Leu47Ter
XM_011519620.3:c.140T>A	XP_011517922.1:p.Leu47Ter
XM_011519621.1:c.140T>A	XP_011517923.1:p.Leu47Ter
XM_011519621.2:c.140T>A	XP_011517923.1:p.Leu47Ter
XM_017016557.1:c.-277T>A	XP_016872046.1:n.-277T>A
XM_017016558.1:c.-348T>A	XP_016872047.1:n.-348T>A
XM_024448134.1:c.-199-3868T>A	XP_024303902.1:n.-199-3868T>A
XM_024448135.1:c.-150T>A	XP_024303903.1:n.-150T>A
XR_001747185.2:n.484T>A
XR_001747187.1:n.176T>A
XR_242702.2:n.237T>A
XR_930514.1:n.237T>A
XR_930515.1:n.237T>A
XR_930515.2:n.484T>A