Canonical Allele Identifier: CA235787

Gene: DCLRE1C

Linked Data

• ClinVar Variation Id: 191000
• ClinVar RCV Id: RCV000171174 ; RCV003987397
• dbSNP Id: rs786205456
• MyVariant Identifiers: chr10:g.14977523C>T (hg19) ; chr10:g.14935524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14935524C>T , CM000672.2:g.14935524C>T	GRCh38
NC_000010.10:g.14977523C>T , CM000672.1:g.14977523C>T	GRCh37
NC_000010.9:g.15017529C>T	NCBI36
NG_007276.1:g.23572G>A , LRG_54:g.23572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*450G>A	ENSP00000367487.3:n.*450G>A
ENST00000456122.2:c.*589G>A	ENSP00000413180.3:n.*589G>A
ENST00000489161.2:c.*181G>A	ENSP00000513000.2:n.*181G>A
ENST00000492201.6:c.403G>A	ENSP00000512999.1:p.Gly135Arg
ENST00000697047.1:c.403G>A	ENSP00000513066.1:p.Gly135Arg
ENST00000697070.1:c.403G>A	ENSP00000513085.1:p.Gly135Arg
ENST00000697071.1:c.*323G>A	ENSP00000513086.1:n.*323G>A
ENST00000697072.1:c.403G>A	ENSP00000513087.1:p.Gly135Arg
ENST00000697073.1:c.*181G>A	ENSP00000513088.2:n.*181G>A
ENST00000697074.1:c.*181G>A	ENSP00000513089.2:n.*181G>A
ENST00000697075.1:c.403G>A	ENSP00000513090.1:p.Gly135Arg
ENST00000697076.1:c.403G>A	ENSP00000513091.1:p.Gly135Arg
ENST00000697077.1:c.*114G>A	ENSP00000513092.1:n.*114G>A
ENST00000697078.1:c.*110G>A	ENSP00000513093.1:n.*110G>A
ENST00000697079.1:n.107G>A
ENST00000697080.1:c.*267G>A	ENSP00000513094.1:n.*267G>A
ENST00000697081.1:c.*20G>A	ENSP00000513095.1:n.*20G>A
ENST00000697082.1:c.*589G>A	ENSP00000513096.1:n.*589G>A
ENST00000697083.1:c.*263G>A	ENSP00000513097.1:n.*263G>A
ENST00000697084.1:c.403G>A	ENSP00000513098.1:p.Gly135Arg
ENST00000697085.1:c.*170G>A	ENSP00000513099.1:n.*170G>A
ENST00000697086.1:n.2840G>A
ENST00000697087.1:c.*323G>A	ENSP00000513100.1:n.*323G>A
ENST00000697088.1:c.*20G>A	ENSP00000513101.1:n.*20G>A
ENST00000697089.1:c.*323G>A	ENSP00000513102.1:n.*323G>A
ENST00000697090.1:n.411G>A
ENST00000378278.7:c.403G>A MANE Select	ENSP00000367527.2:p.Gly135Arg
ENST00000357717.6:c.58G>A	ENSP00000350349.2:p.Gly20Arg
ENST00000378241.5:c.43G>A	ENSP00000367487.1:p.Gly15Arg
ENST00000378246.6:c.58G>A	ENSP00000367492.2:p.Gly20Arg
ENST00000378249.5:c.58G>A	ENSP00000367496.1:p.Gly20Arg
ENST00000378254.5:c.43G>A	ENSP00000367502.1:p.Gly15Arg
ENST00000378255.5:c.43G>A	ENSP00000367503.1:p.Gly15Arg
ENST00000378258.5:c.43G>A	ENSP00000367506.1:p.Gly15Arg
ENST00000378278.6:c.403G>A	ENSP00000367527.2:p.Gly135Arg
ENST00000378289.8:c.403G>A	ENSP00000367538.4:p.Gly135Arg
ENST00000396817.6:c.43G>A	ENSP00000380030.2:p.Gly15Arg
ENST00000418843.5:c.-35-1G>A	ENSP00000391428.1:n.-35-1G>A
ENST00000456122.1:c.58G>A	ENSP00000413180.1:p.Gly20Arg
NM_001033855.2:c.403G>A	NP_001029027.1:p.Gly135Arg
NM_001033857.2:c.43G>A	NP_001029029.1:p.Gly15Arg
NM_001033858.2:c.43G>A	NP_001029030.1:p.Gly15Arg
NM_001289076.1:c.58G>A	NP_001276005.1:p.Gly20Arg
NM_001289077.1:c.43G>A	NP_001276006.1:p.Gly15Arg
NM_001289078.1:c.58G>A	NP_001276007.1:p.Gly20Arg
NM_001289079.1:c.43G>A	NP_001276008.1:p.Gly15Arg
NM_022487.3:c.58G>A	NP_071932.2:p.Gly20Arg
NR_110297.1:n.1037G>A
XM_006717491.2:c.58G>A	XP_006717554.1:p.Gly20Arg
XM_011519616.1:c.58G>A	XP_011517918.1:p.Gly20Arg
XM_011519617.1:c.58G>A	XP_011517919.1:p.Gly20Arg
XM_011519618.1:c.58G>A	XP_011517920.1:p.Gly20Arg
XM_011519619.1:c.43G>A	XP_011517921.1:p.Gly15Arg
XM_011519620.1:c.403G>A	XP_011517922.1:p.Gly135Arg
XM_011519621.1:c.403G>A	XP_011517923.1:p.Gly135Arg
XR_242702.2:n.500G>A
XR_930514.1:n.500G>A
XR_930515.1:n.500G>A
NM_001350965.1:c.403G>A	NP_001337894.1:p.Gly135Arg
NM_001350966.1:c.58G>A	NP_001337895.1:p.Gly20Arg
NM_001350967.1:c.43G>A	NP_001337896.1:p.Gly15Arg
NR_146960.1:n.825G>A
NR_146961.1:n.854G>A
NR_146962.1:n.825G>A
XM_006717491.4:c.58G>A	XP_006717554.1:p.Gly20Arg
XM_011519620.3:c.403G>A	XP_011517922.1:p.Gly135Arg
XM_011519621.2:c.403G>A	XP_011517923.1:p.Gly135Arg
XM_017016557.1:c.58G>A	XP_016872046.1:p.Gly20Arg
XM_017016558.1:c.43G>A	XP_016872047.1:p.Gly15Arg
XM_024448134.1:c.43G>A	XP_024303902.1:p.Gly15Arg
XM_024448135.1:c.58G>A	XP_024303903.1:p.Gly20Arg
XR_001747185.2:n.747G>A
XR_001747187.1:n.383G>A
XR_930515.2:n.747G>A
NM_001033855.3:c.403G>A MANE Select	NP_001029027.1:p.Gly135Arg
NM_001033857.3:c.43G>A	NP_001029029.1:p.Gly15Arg
NM_001033858.3:c.43G>A	NP_001029030.1:p.Gly15Arg
NM_001289076.2:c.58G>A	NP_001276005.1:p.Gly20Arg
NM_001289077.2:c.43G>A	NP_001276006.1:p.Gly15Arg
NM_001289078.2:c.58G>A	NP_001276007.1:p.Gly20Arg
NM_001289079.2:c.43G>A	NP_001276008.1:p.Gly15Arg
NM_001350965.2:c.403G>A	NP_001337894.1:p.Gly135Arg
NM_001350966.2:c.58G>A	NP_001337895.1:p.Gly20Arg
NM_001350967.2:c.43G>A	NP_001337896.1:p.Gly15Arg
NM_022487.4:c.58G>A	NP_071932.2:p.Gly20Arg
NR_110297.2:n.701G>A
NR_146961.2:n.518G>A