Canonical Allele Identifier: CA376066033
Gene: DCLRE1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2062424
ClinVar RCV Id: RCV002957713
MyVariant Identifiers: chr10:g.14995976G>A (hg19) chr10:g.14953977G>A (hg38)
ERepo: CA376066033/MONDO:0011225/116
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14953977G>A , CM000672.2:g.14953977G>A GRCh38
NC_000010.10:g.14995976G>A , CM000672.1:g.14995976G>A GRCh37
NC_000010.9:g.15035982G>A NCBI36
NG_007276.1:g.5119C>T , LRG_54:g.5119C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378241.6:c.34C>T ENSP00000367487.3:p.Pro12Ser
ENST00000456122.2:c.34C>T ENSP00000413180.3:p.Pro12Ser
ENST00000489161.2:c.34C>T ENSP00000513000.2:p.Pro12Ser
ENST00000492201.6:c.34C>T ENSP00000512999.1:p.Pro12Ser
ENST00000697047.1:c.34C>T ENSP00000513066.1:p.Pro12Ser
ENST00000697070.1:c.34C>T ENSP00000513085.1:p.Pro12Ser
ENST00000697071.1:c.34C>T ENSP00000513086.1:p.Pro12Ser
ENST00000697072.1:c.34C>T ENSP00000513087.1:p.Pro12Ser
ENST00000697073.1:c.34C>T ENSP00000513088.2:p.Pro12Ser
ENST00000697074.1:c.34C>T ENSP00000513089.2:p.Pro12Ser
ENST00000697075.1:c.34C>T ENSP00000513090.1:p.Pro12Ser
ENST00000697076.1:c.34C>T ENSP00000513091.1:p.Pro12Ser
ENST00000697077.1:c.34C>T ENSP00000513092.1:p.Pro12Ser
ENST00000697078.1:c.34C>T ENSP00000513093.1:p.Pro12Ser
ENST00000697080.1:c.34C>T ENSP00000513094.1:p.Pro12Ser
ENST00000697081.1:c.34C>T ENSP00000513095.1:p.Pro12Ser
ENST00000697082.1:c.34C>T ENSP00000513096.1:p.Pro12Ser
ENST00000697083.1:c.34C>T ENSP00000513097.1:p.Pro12Ser
ENST00000697084.1:c.34C>T ENSP00000513098.1:p.Pro12Ser
ENST00000697085.1:c.34C>T ENSP00000513099.1:p.Pro12Ser
ENST00000697087.1:c.34C>T ENSP00000513100.1:p.Pro12Ser
ENST00000697088.1:c.34C>T ENSP00000513101.1:p.Pro12Ser
ENST00000697089.1:c.34C>T ENSP00000513102.1:p.Pro12Ser
ENST00000697091.1:n.95C>T
ENST00000378278.7:c.34C>T MANE Select ENSP00000367527.2:p.Pro12Ser
ENST00000357717.6:c.-171C>T ENSP00000350349.2:n.-171C>T
ENST00000378241.5:c.-539C>T ENSP00000367487.1:n.-539C>T
ENST00000378246.6:c.-256C>T ENSP00000367492.2:n.-256C>T
ENST00000378249.5:c.-204C>T ENSP00000367496.1:n.-204C>T
ENST00000378254.5:c.-458C>T ENSP00000367502.1:n.-458C>T
ENST00000378255.5:c.-780C>T ENSP00000367503.1:n.-780C>T
ENST00000378258.5:c.-412C>T ENSP00000367506.1:n.-412C>T
ENST00000378278.6:c.34C>T ENSP00000367527.2:p.Pro12Ser
ENST00000378289.8:c.34C>T ENSP00000367538.4:p.Pro12Ser
ENST00000396817.6:c.-734C>T ENSP00000380030.2:n.-734C>T
ENST00000418843.5:c.-495C>T ENSP00000391428.1:n.-495C>T
ENST00000456122.1:c.-663C>T ENSP00000413180.1:n.-663C>T
NM_001033855.2:c.34C>T NP_001029027.1:p.Pro12Ser
NM_001033857.2:c.-412C>T NP_001029029.1:n.-412C>T
NM_001033858.2:c.-734C>T NP_001029030.1:n.-734C>T
NM_001289076.1:c.-171C>T NP_001276005.1:n.-171C>T
NM_001289077.1:c.-458C>T NP_001276006.1:n.-458C>T
NM_001289078.1:c.-204C>T NP_001276007.1:n.-204C>T
NM_001289079.1:c.-780C>T NP_001276008.1:n.-780C>T
NM_022487.3:c.-256C>T NP_071932.2:n.-256C>T
NR_110297.1:n.456C>T
XM_006717491.2:c.-387C>T XP_006717554.1:n.-387C>T
XM_011519616.1:c.-341C>T XP_011517918.1:n.-341C>T
XM_011519617.1:c.-472C>T XP_011517919.1:n.-472C>T
XM_011519618.1:c.-599C>T XP_011517920.1:n.-599C>T
XM_011519619.1:c.-543C>T XP_011517921.1:n.-543C>T
XM_011519620.1:c.34C>T XP_011517922.1:p.Pro12Ser
XM_011519621.1:c.34C>T XP_011517923.1:p.Pro12Ser
XR_242702.2:n.131C>T
XR_930514.1:n.131C>T
XR_930515.1:n.131C>T
NM_001350965.1:c.34C>T NP_001337894.1:p.Pro12Ser
NM_001350966.1:c.-204C>T NP_001337895.1:n.-204C>T
NM_001350967.1:c.-412C>T NP_001337896.1:n.-412C>T
NR_146960.1:n.456C>T
NR_146961.1:n.456C>T
NR_146962.1:n.456C>T
XM_006717491.4:c.-387C>T XP_006717554.1:n.-387C>T
XM_011519620.3:c.34C>T XP_011517922.1:p.Pro12Ser
XM_011519621.2:c.34C>T XP_011517923.1:p.Pro12Ser
XM_017016557.1:c.-383C>T XP_016872046.1:n.-383C>T
XM_017016558.1:c.-454C>T XP_016872047.1:n.-454C>T
XM_024448134.1:c.-275C>T XP_024303902.1:n.-275C>T
XM_024448135.1:c.-256C>T XP_024303903.1:n.-256C>T
XR_001747185.2:n.378C>T
XR_001747187.1:n.70C>T
XR_930515.2:n.378C>T
NM_001033855.3:c.34C>T MANE Select NP_001029027.1:p.Pro12Ser
NM_001033857.3:c.-412C>T NP_001029029.1:n.-412C>T
NM_001033858.3:c.-734C>T NP_001029030.1:n.-734C>T
NM_001289076.2:c.-171C>T NP_001276005.1:n.-171C>T
NM_001289077.2:c.-458C>T NP_001276006.1:n.-458C>T
NM_001289078.2:c.-204C>T NP_001276007.1:n.-204C>T
NM_001289079.2:c.-780C>T NP_001276008.1:n.-780C>T
NM_001350965.2:c.34C>T NP_001337894.1:p.Pro12Ser
NM_001350966.2:c.-204C>T NP_001337895.1:n.-204C>T
NM_001350967.2:c.-412C>T NP_001337896.1:n.-412C>T
NM_022487.4:c.-256C>T NP_071932.2:n.-256C>T
NR_110297.2:n.120C>T
NR_146961.2:n.120C>T
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