Canonical Allele Identifier: CA5416450

Gene: DCLRE1C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14908900T>G , CM000672.2:g.14908900T>G	GRCh38
NC_000010.10:g.14950899T>G , CM000672.1:g.14950899T>G	GRCh37
NC_000010.9:g.14990905T>G	NCBI36
NG_007276.1:g.50196A>C , LRG_54:g.50196A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001033855.3:c.1587A>C MANE Select	NP_001029027.1:p.Ser529=
ENST00000378278.7:c.1587A>C MANE Select	ENSP00000367527.2:p.Ser529=
NM_001033855.2:c.1587A>C	NP_001029027.1:p.Ser529=
NM_001033857.2:c.1227A>C	NP_001029029.1:p.Ser409=
NM_001033857.3:c.1227A>C	NP_001029029.1:p.Ser409=
NM_001033858.2:c.1227A>C	NP_001029030.1:p.Ser409=
NM_001033858.3:c.1227A>C	NP_001029030.1:p.Ser409=
NM_001289076.1:c.1242A>C	NP_001276005.1:p.Ser414=
NM_001289076.2:c.1242A>C	NP_001276005.1:p.Ser414=
NM_001289077.1:c.1227A>C	NP_001276006.1:p.Ser409=
NM_001289077.2:c.1227A>C	NP_001276006.1:p.Ser409=
NM_001289078.1:c.1242A>C	NP_001276007.1:p.Ser414=
NM_001289078.2:c.1242A>C	NP_001276007.1:p.Ser414=
NM_001289079.1:c.1227A>C	NP_001276008.1:p.Ser409=
NM_001289079.2:c.1227A>C	NP_001276008.1:p.Ser409=
NM_001350965.1:c.1587A>C	NP_001337894.1:p.Ser529=
NM_001350965.2:c.1587A>C	NP_001337894.1:p.Ser529=
NM_001350966.1:c.1242A>C	NP_001337895.1:p.Ser414=
NM_001350966.2:c.1242A>C	NP_001337895.1:p.Ser414=
NM_001350967.1:c.1227A>C	NP_001337896.1:p.Ser409=
NM_001350967.2:c.1227A>C	NP_001337896.1:p.Ser409=
NM_022487.3:c.1242A>C	NP_071932.2:p.Ser414=
NM_022487.4:c.1242A>C	NP_071932.2:p.Ser414=
NR_110297.1:n.2362A>C
NR_110297.2:n.2026A>C
NR_146960.1:n.1954A>C
NR_146961.1:n.2103A>C
NR_146961.2:n.1767A>C
NR_146962.1:n.2074A>C
ENST00000357717.6:c.1242A>C	ENSP00000350349.2:p.Ser414=
ENST00000378241.6:c.*1775A>C	ENSP00000367487.3:n.*1775A>C
ENST00000378242.1:c.546A>C	ENSP00000367488.1:p.Ser182=
ENST00000378246.6:c.1242A>C	ENSP00000367492.2:p.Ser414=
ENST00000378249.5:c.1242A>C	ENSP00000367496.1:p.Ser414=
ENST00000378254.5:c.1227A>C	ENSP00000367502.1:p.Ser409=
ENST00000378255.5:c.1227A>C	ENSP00000367503.1:p.Ser409=
ENST00000378258.5:c.1227A>C	ENSP00000367506.1:p.Ser409=
ENST00000378278.6:c.1587A>C	ENSP00000367527.2:p.Ser529=
ENST00000378289.8:c.1157-9588A>C	ENSP00000367538.4:n.1157-9588A>C
ENST00000396817.6:c.1227A>C	ENSP00000380030.2:p.Ser409=
ENST00000456122.2:c.*1343-9588A>C	ENSP00000413180.3:n.*1343-9588A>C
ENST00000489161.2:c.*1310A>C	ENSP00000513000.2:n.*1310A>C
ENST00000492201.5:n.802A>C
ENST00000492201.6:c.*581A>C	ENSP00000512999.1:n.*581A>C
ENST00000697047.1:c.1587A>C	ENSP00000513066.1:p.Ser529=
ENST00000697070.1:c.1587A>C	ENSP00000513085.1:p.Ser529=
ENST00000697071.1:c.*1507A>C	ENSP00000513086.1:n.*1507A>C
ENST00000697072.1:c.*599A>C	ENSP00000513087.1:n.*599A>C
ENST00000697073.1:c.*1365A>C	ENSP00000513088.2:n.*1365A>C
ENST00000697074.1:c.*1365A>C	ENSP00000513089.2:n.*1365A>C
ENST00000697075.1:c.1587A>C	ENSP00000513090.1:p.Ser529=
ENST00000697076.1:c.*599A>C	ENSP00000513091.1:n.*599A>C
ENST00000697077.1:c.*1298A>C	ENSP00000513092.1:n.*1298A>C
ENST00000697078.1:c.*1294A>C	ENSP00000513093.1:n.*1294A>C
ENST00000697079.1:n.1291A>C
ENST00000697080.1:c.*1451A>C	ENSP00000513094.1:n.*1451A>C
ENST00000697081.1:c.*1345A>C	ENSP00000513095.1:n.*1345A>C
ENST00000697082.1:c.*1616A>C	ENSP00000513096.1:n.*1616A>C
ENST00000697083.1:c.*1392A>C	ENSP00000513097.1:n.*1392A>C
ENST00000697084.1:c.1644A>C	ENSP00000513098.1:p.Ser548=
ENST00000697085.1:c.*1354A>C	ENSP00000513099.1:n.*1354A>C
ENST00000697086.1:n.4163A>C
XM_006717491.2:c.1242A>C	XP_006717554.1:p.Ser414=
XM_006717491.4:c.1242A>C	XP_006717554.1:p.Ser414=
XM_011519616.1:c.1242A>C	XP_011517918.1:p.Ser414=
XM_011519617.1:c.1242A>C	XP_011517919.1:p.Ser414=
XM_011519618.1:c.1242A>C	XP_011517920.1:p.Ser414=
XM_011519619.1:c.1227A>C	XP_011517921.1:p.Ser409=
XM_017016557.1:c.1242A>C	XP_016872046.1:p.Ser414=
XM_017016558.1:c.1227A>C	XP_016872047.1:p.Ser409=
XM_024448134.1:c.1227A>C	XP_024303902.1:p.Ser409=
XM_024448135.1:c.1242A>C	XP_024303903.1:p.Ser414=
XR_001747185.2:n.1876A>C
XR_001747187.1:n.1708A>C