Canonical Allele Identifier: CA5416545

Gene: DCLRE1C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14919747G>A , CM000672.2:g.14919747G>A	GRCh38
NC_000010.10:g.14961746G>A , CM000672.1:g.14961746G>A	GRCh37
NC_000010.9:g.15001752G>A	NCBI36
NG_007276.1:g.39349C>T , LRG_54:g.39349C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001033855.3:c.1147C>T MANE Select	NP_001029027.1:p.Arg383Ter
ENST00000378278.7:c.1147C>T MANE Select	ENSP00000367527.2:p.Arg383Ter
NM_001033855.2:c.1147C>T	NP_001029027.1:p.Arg383Ter
NM_001033857.2:c.787C>T	NP_001029029.1:p.Arg263Ter
NM_001033857.3:c.787C>T	NP_001029029.1:p.Arg263Ter
NM_001033858.2:c.787C>T	NP_001029030.1:p.Arg263Ter
NM_001033858.3:c.787C>T	NP_001029030.1:p.Arg263Ter
NM_001289076.1:c.802C>T	NP_001276005.1:p.Arg268Ter
NM_001289076.2:c.802C>T	NP_001276005.1:p.Arg268Ter
NM_001289077.1:c.787C>T	NP_001276006.1:p.Arg263Ter
NM_001289077.2:c.787C>T	NP_001276006.1:p.Arg263Ter
NM_001289078.1:c.802C>T	NP_001276007.1:p.Arg268Ter
NM_001289078.2:c.802C>T	NP_001276007.1:p.Arg268Ter
NM_001289079.1:c.787C>T	NP_001276008.1:p.Arg263Ter
NM_001289079.2:c.787C>T	NP_001276008.1:p.Arg263Ter
NM_001350965.1:c.1147C>T	NP_001337894.1:p.Arg383Ter
NM_001350965.2:c.1147C>T	NP_001337894.1:p.Arg383Ter
NM_001350966.1:c.802C>T	NP_001337895.1:p.Arg268Ter
NM_001350966.2:c.802C>T	NP_001337895.1:p.Arg268Ter
NM_001350967.1:c.787C>T	NP_001337896.1:p.Arg263Ter
NM_001350967.2:c.787C>T	NP_001337896.1:p.Arg263Ter
NM_022487.3:c.802C>T	NP_071932.2:p.Arg268Ter
NM_022487.4:c.802C>T	NP_071932.2:p.Arg268Ter
NR_110297.1:n.1781C>T
NR_110297.2:n.1445C>T
NR_146960.1:n.1514C>T
NR_146961.1:n.1663C>T
NR_146961.2:n.1327C>T
NR_146962.1:n.1634C>T
ENST00000357717.6:c.802C>T	ENSP00000350349.2:p.Arg268Ter
ENST00000378241.6:c.*1194C>T	ENSP00000367487.3:n.*1194C>T
ENST00000378242.1:c.106C>T	ENSP00000367488.1:p.Arg36Ter
ENST00000378246.6:c.802C>T	ENSP00000367492.2:p.Arg268Ter
ENST00000378249.5:c.802C>T	ENSP00000367496.1:p.Arg268Ter
ENST00000378254.5:c.787C>T	ENSP00000367502.1:p.Arg263Ter
ENST00000378255.5:c.787C>T	ENSP00000367503.1:p.Arg263Ter
ENST00000378258.5:c.787C>T	ENSP00000367506.1:p.Arg263Ter
ENST00000378278.6:c.1147C>T	ENSP00000367527.2:p.Arg383Ter
ENST00000378289.8:c.1147C>T	ENSP00000367538.4:p.Arg383Ter
ENST00000396817.6:c.787C>T	ENSP00000380030.2:p.Arg263Ter
ENST00000456122.2:c.*1333C>T	ENSP00000413180.3:n.*1333C>T
ENST00000489161.2:c.*870C>T	ENSP00000513000.2:n.*870C>T
ENST00000492201.5:n.362C>T
ENST00000492201.6:c.*141C>T	ENSP00000512999.1:n.*141C>T
ENST00000697047.1:c.1147C>T	ENSP00000513066.1:p.Arg383Ter
ENST00000697070.1:c.1147C>T	ENSP00000513085.1:p.Arg383Ter
ENST00000697071.1:c.*1067C>T	ENSP00000513086.1:n.*1067C>T
ENST00000697072.1:c.*159C>T	ENSP00000513087.1:n.*159C>T
ENST00000697073.1:c.*925C>T	ENSP00000513088.2:n.*925C>T
ENST00000697074.1:c.*925C>T	ENSP00000513089.2:n.*925C>T
ENST00000697075.1:c.1147C>T	ENSP00000513090.1:p.Arg383Ter
ENST00000697076.1:c.*159C>T	ENSP00000513091.1:n.*159C>T
ENST00000697077.1:c.*858C>T	ENSP00000513092.1:n.*858C>T
ENST00000697078.1:c.*854C>T	ENSP00000513093.1:n.*854C>T
ENST00000697079.1:n.851C>T
ENST00000697080.1:c.*1011C>T	ENSP00000513094.1:n.*1011C>T
ENST00000697081.1:c.*764C>T	ENSP00000513095.1:n.*764C>T
ENST00000697082.1:c.*1176C>T	ENSP00000513096.1:n.*1176C>T
ENST00000697083.1:c.*952C>T	ENSP00000513097.1:n.*952C>T
ENST00000697084.1:c.1204C>T	ENSP00000513098.1:p.Arg402Ter
ENST00000697085.1:c.*914C>T	ENSP00000513099.1:n.*914C>T
ENST00000697086.1:n.3584C>T
ENST00000697087.1:c.*1132C>T	ENSP00000513100.1:n.*1132C>T
ENST00000697088.1:c.*764C>T	ENSP00000513101.1:n.*764C>T
ENST00000697089.1:c.*1067C>T	ENSP00000513102.1:n.*1067C>T
XM_006717491.2:c.802C>T	XP_006717554.1:p.Arg268Ter
XM_006717491.4:c.802C>T	XP_006717554.1:p.Arg268Ter
XM_011519616.1:c.802C>T	XP_011517918.1:p.Arg268Ter
XM_011519617.1:c.802C>T	XP_011517919.1:p.Arg268Ter
XM_011519618.1:c.802C>T	XP_011517920.1:p.Arg268Ter
XM_011519619.1:c.787C>T	XP_011517921.1:p.Arg263Ter
XM_011519620.1:c.1147C>T	XP_011517922.1:p.Arg383Ter
XM_011519620.3:c.1147C>T	XP_011517922.1:p.Arg383Ter
XM_017016557.1:c.802C>T	XP_016872046.1:p.Arg268Ter
XM_017016558.1:c.787C>T	XP_016872047.1:p.Arg263Ter
XM_024448134.1:c.787C>T	XP_024303902.1:p.Arg263Ter
XM_024448135.1:c.802C>T	XP_024303903.1:p.Arg268Ter
XR_001747185.2:n.1436C>T
XR_001747187.1:n.1127C>T
XR_242702.2:n.1309C>T
XR_930514.1:n.1189C>T
XR_930515.1:n.1254C>T
XR_930515.2:n.1501C>T