Canonical Allele Identifier: CA229063

Gene: DCLRE1C

Linked Data

• ClinVar Variation Id: 100821
• ClinVar RCV Id: RCV000087179
• dbSNP Id: rs483352702
• MyVariant Identifiers: chr10:g.14951144T>C (hg19) ; chr10:g.14909145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14909145T>C , CM000672.2:g.14909145T>C	GRCh38
NC_000010.10:g.14951144T>C , CM000672.1:g.14951144T>C	GRCh37
NC_000010.9:g.14991150T>C	NCBI36
NG_007276.1:g.49951A>G , LRG_54:g.49951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*1530A>G	ENSP00000367487.3:n.*1530A>G
ENST00000456122.2:c.*1343-9833A>G	ENSP00000413180.3:n.*1343-9833A>G
ENST00000489161.2:c.*1065A>G	ENSP00000513000.2:n.*1065A>G
ENST00000492201.6:c.*336A>G	ENSP00000512999.1:n.*336A>G
ENST00000697047.1:c.1342A>G	ENSP00000513066.1:p.Asn448Asp
ENST00000697070.1:c.1342A>G	ENSP00000513085.1:p.Asn448Asp
ENST00000697071.1:c.*1262A>G	ENSP00000513086.1:n.*1262A>G
ENST00000697072.1:c.*354A>G	ENSP00000513087.1:n.*354A>G
ENST00000697073.1:c.*1120A>G	ENSP00000513088.2:n.*1120A>G
ENST00000697074.1:c.*1120A>G	ENSP00000513089.2:n.*1120A>G
ENST00000697075.1:c.1342A>G	ENSP00000513090.1:p.Asn448Asp
ENST00000697076.1:c.*354A>G	ENSP00000513091.1:n.*354A>G
ENST00000697077.1:c.*1053A>G	ENSP00000513092.1:n.*1053A>G
ENST00000697078.1:c.*1049A>G	ENSP00000513093.1:n.*1049A>G
ENST00000697079.1:n.1046A>G
ENST00000697080.1:c.*1206A>G	ENSP00000513094.1:n.*1206A>G
ENST00000697081.1:c.*1100A>G	ENSP00000513095.1:n.*1100A>G
ENST00000697082.1:c.*1371A>G	ENSP00000513096.1:n.*1371A>G
ENST00000697083.1:c.*1147A>G	ENSP00000513097.1:n.*1147A>G
ENST00000697084.1:c.1399A>G	ENSP00000513098.1:p.Asn467Asp
ENST00000697085.1:c.*1109A>G	ENSP00000513099.1:n.*1109A>G
ENST00000697086.1:n.3918A>G
ENST00000378278.7:c.1342A>G MANE Select	ENSP00000367527.2:p.Asn448Asp
ENST00000357717.6:c.997A>G	ENSP00000350349.2:p.Asn333Asp
ENST00000378242.1:c.301A>G	ENSP00000367488.1:p.Asn101Asp
ENST00000378246.6:c.997A>G	ENSP00000367492.2:p.Asn333Asp
ENST00000378249.5:c.997A>G	ENSP00000367496.1:p.Asn333Asp
ENST00000378254.5:c.982A>G	ENSP00000367502.1:p.Asn328Asp
ENST00000378255.5:c.982A>G	ENSP00000367503.1:p.Asn328Asp
ENST00000378258.5:c.982A>G	ENSP00000367506.1:p.Asn328Asp
ENST00000378278.6:c.1342A>G	ENSP00000367527.2:p.Asn448Asp
ENST00000378289.8:c.1157-9833A>G	ENSP00000367538.4:n.1157-9833A>G
ENST00000396817.6:c.982A>G	ENSP00000380030.2:p.Asn328Asp
ENST00000492201.5:n.557A>G
NM_001033855.2:c.1342A>G	NP_001029027.1:p.Asn448Asp
NM_001033857.2:c.982A>G	NP_001029029.1:p.Asn328Asp
NM_001033858.2:c.982A>G	NP_001029030.1:p.Asn328Asp
NM_001289076.1:c.997A>G	NP_001276005.1:p.Asn333Asp
NM_001289077.1:c.982A>G	NP_001276006.1:p.Asn328Asp
NM_001289078.1:c.997A>G	NP_001276007.1:p.Asn333Asp
NM_001289079.1:c.982A>G	NP_001276008.1:p.Asn328Asp
NM_022487.3:c.997A>G	NP_071932.2:p.Asn333Asp
NR_110297.1:n.2117A>G
XM_006717491.2:c.997A>G	XP_006717554.1:p.Asn333Asp
XM_011519616.1:c.997A>G	XP_011517918.1:p.Asn333Asp
XM_011519617.1:c.997A>G	XP_011517919.1:p.Asn333Asp
XM_011519618.1:c.997A>G	XP_011517920.1:p.Asn333Asp
XM_011519619.1:c.982A>G	XP_011517921.1:p.Asn328Asp
NM_001350965.1:c.1342A>G	NP_001337894.1:p.Asn448Asp
NM_001350966.1:c.997A>G	NP_001337895.1:p.Asn333Asp
NM_001350967.1:c.982A>G	NP_001337896.1:p.Asn328Asp
NR_146960.1:n.1709A>G
NR_146961.1:n.1858A>G
NR_146962.1:n.1829A>G
XM_006717491.4:c.997A>G	XP_006717554.1:p.Asn333Asp
XM_017016557.1:c.997A>G	XP_016872046.1:p.Asn333Asp
XM_017016558.1:c.982A>G	XP_016872047.1:p.Asn328Asp
XM_024448134.1:c.982A>G	XP_024303902.1:p.Asn328Asp
XM_024448135.1:c.997A>G	XP_024303903.1:p.Asn333Asp
XR_001747185.2:n.1631A>G
XR_001747187.1:n.1463A>G
NM_001033855.3:c.1342A>G MANE Select	NP_001029027.1:p.Asn448Asp
NM_001033857.3:c.982A>G	NP_001029029.1:p.Asn328Asp
NM_001033858.3:c.982A>G	NP_001029030.1:p.Asn328Asp
NM_001289076.2:c.997A>G	NP_001276005.1:p.Asn333Asp
NM_001289077.2:c.982A>G	NP_001276006.1:p.Asn328Asp
NM_001289078.2:c.997A>G	NP_001276007.1:p.Asn333Asp
NM_001289079.2:c.982A>G	NP_001276008.1:p.Asn328Asp
NM_001350965.2:c.1342A>G	NP_001337894.1:p.Asn448Asp
NM_001350966.2:c.997A>G	NP_001337895.1:p.Asn333Asp
NM_001350967.2:c.982A>G	NP_001337896.1:p.Asn328Asp
NM_022487.4:c.997A>G	NP_071932.2:p.Asn333Asp
NR_110297.2:n.1781A>G
NR_146961.2:n.1522A>G