Canonical Allele Identifier: CA5416366

Gene: DCLRE1C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14908543A>G , CM000672.2:g.14908543A>G	GRCh38
NC_000010.10:g.14950542A>G , CM000672.1:g.14950542A>G	GRCh37
NC_000010.9:g.14990548A>G	NCBI36
NG_007276.1:g.50553T>C , LRG_54:g.50553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*2132T>C	ENSP00000367487.3:n.*2132T>C
ENST00000456122.2:c.*1343-9231T>C	ENSP00000413180.3:n.*1343-9231T>C
ENST00000489161.2:c.*1667T>C	ENSP00000513000.2:n.*1667T>C
ENST00000492201.6:c.*938T>C	ENSP00000512999.1:n.*938T>C
ENST00000697047.1:c.1782+162T>C	ENSP00000513066.1:n.1782+162T>C
ENST00000697070.1:c.1944T>C	ENSP00000513085.1:p.Ser648=
ENST00000697071.1:c.*1702+162T>C	ENSP00000513086.1:n.*1702+162T>C
ENST00000697072.1:c.*794+162T>C	ENSP00000513087.1:n.*794+162T>C
ENST00000697073.1:c.*1560+162T>C	ENSP00000513088.2:n.*1560+162T>C
ENST00000697074.1:c.*1722T>C	ENSP00000513089.2:n.*1722T>C
ENST00000697075.1:c.1944T>C	ENSP00000513090.1:p.Ser648=
ENST00000697076.1:c.*956T>C	ENSP00000513091.1:n.*956T>C
ENST00000697077.1:c.*1655T>C	ENSP00000513092.1:n.*1655T>C
ENST00000697078.1:c.*1651T>C	ENSP00000513093.1:n.*1651T>C
ENST00000697079.1:n.1648T>C
ENST00000697080.1:c.*1808T>C	ENSP00000513094.1:n.*1808T>C
ENST00000697081.1:c.*1702T>C	ENSP00000513095.1:n.*1702T>C
ENST00000697082.1:c.*1973T>C	ENSP00000513096.1:n.*1973T>C
ENST00000697083.1:c.*1749T>C	ENSP00000513097.1:n.*1749T>C
ENST00000697084.1:c.2001T>C	ENSP00000513098.1:p.Ser667=
ENST00000697085.1:c.*1711T>C	ENSP00000513099.1:n.*1711T>C
ENST00000378278.7:c.1944T>C MANE Select	ENSP00000367527.2:p.Ser648=
ENST00000357717.6:c.1599T>C	ENSP00000350349.2:p.Ser533=
ENST00000378242.1:c.903T>C	ENSP00000367488.1:p.Ser301=
ENST00000378246.6:c.1599T>C	ENSP00000367492.2:p.Ser533=
ENST00000378249.5:c.1599T>C	ENSP00000367496.1:p.Ser533=
ENST00000378254.5:c.1584T>C	ENSP00000367502.1:p.Ser528=
ENST00000378255.5:c.1584T>C	ENSP00000367503.1:p.Ser528=
ENST00000378258.5:c.1584T>C	ENSP00000367506.1:p.Ser528=
ENST00000378278.6:c.1944T>C	ENSP00000367527.2:p.Ser648=
ENST00000378289.8:c.1157-9231T>C	ENSP00000367538.4:n.1157-9231T>C
ENST00000396817.6:c.1584T>C	ENSP00000380030.2:p.Ser528=
NM_001033855.2:c.1944T>C	NP_001029027.1:p.Ser648=
NM_001033857.2:c.1584T>C	NP_001029029.1:p.Ser528=
NM_001033858.2:c.1584T>C	NP_001029030.1:p.Ser528=
NM_001289076.1:c.1599T>C	NP_001276005.1:p.Ser533=
NM_001289077.1:c.1584T>C	NP_001276006.1:p.Ser528=
NM_001289078.1:c.1599T>C	NP_001276007.1:p.Ser533=
NM_001289079.1:c.1584T>C	NP_001276008.1:p.Ser528=
NM_022487.3:c.1599T>C	NP_071932.2:p.Ser533=
NR_110297.1:n.2719T>C
XM_006717491.2:c.1599T>C	XP_006717554.1:p.Ser533=
XM_011519616.1:c.1599T>C	XP_011517918.1:p.Ser533=
XM_011519617.1:c.1599T>C	XP_011517919.1:p.Ser533=
XM_011519618.1:c.1599T>C	XP_011517920.1:p.Ser533=
XM_011519619.1:c.1584T>C	XP_011517921.1:p.Ser528=
NM_001350965.1:c.1782+162T>C	NP_001337894.1:n.1782+162T>C
NM_001350966.1:c.1437+162T>C	NP_001337895.1:n.1437+162T>C
NM_001350967.1:c.1422+162T>C	NP_001337896.1:n.1422+162T>C
NR_146960.1:n.2149+162T>C
NR_146961.1:n.2460T>C
NR_146962.1:n.2431T>C
XM_006717491.4:c.1599T>C	XP_006717554.1:p.Ser533=
XM_017016557.1:c.1599T>C	XP_016872046.1:p.Ser533=
XM_017016558.1:c.1584T>C	XP_016872047.1:p.Ser528=
XM_024448134.1:c.1584T>C	XP_024303902.1:p.Ser528=
XM_024448135.1:c.1437+162T>C	XP_024303903.1:n.1437+162T>C
XR_001747185.2:n.2233T>C
XR_001747187.1:n.2065T>C
NM_001033855.3:c.1944T>C MANE Select	NP_001029027.1:p.Ser648=
NM_001033857.3:c.1584T>C	NP_001029029.1:p.Ser528=
NM_001033858.3:c.1584T>C	NP_001029030.1:p.Ser528=
NM_001289076.2:c.1599T>C	NP_001276005.1:p.Ser533=
NM_001289077.2:c.1584T>C	NP_001276006.1:p.Ser528=
NM_001289078.2:c.1599T>C	NP_001276007.1:p.Ser533=
NM_001289079.2:c.1584T>C	NP_001276008.1:p.Ser528=
NM_001350965.2:c.1782+162T>C	NP_001337894.1:n.1782+162T>C
NM_001350966.2:c.1437+162T>C	NP_001337895.1:n.1437+162T>C
NM_001350967.2:c.1422+162T>C	NP_001337896.1:n.1422+162T>C
NM_022487.4:c.1599T>C	NP_071932.2:p.Ser533=
NR_110297.2:n.2383T>C
NR_146961.2:n.2124T>C