Canonical Allele Identifier: CA376059444
Gene: DCLRE1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14934422A>T , CM000672.2:g.14934422A>T GRCh38
NC_000010.10:g.14976421A>T , CM000672.1:g.14976421A>T GRCh37
NC_000010.9:g.15016427A>T NCBI36
NG_007276.1:g.24674T>A , LRG_54:g.24674T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378241.6:c.*683T>A ENSP00000367487.3:n.*683T>A
ENST00000456122.2:c.*822T>A ENSP00000413180.3:n.*822T>A
ENST00000489161.2:c.*414T>A ENSP00000513000.2:n.*414T>A
ENST00000492201.6:c.636T>A ENSP00000512999.1:p.Tyr212Ter
ENST00000697047.1:c.636T>A ENSP00000513066.1:p.Tyr212Ter
ENST00000697070.1:c.636T>A ENSP00000513085.1:p.Tyr212Ter
ENST00000697071.1:c.*556T>A ENSP00000513086.1:n.*556T>A
ENST00000697072.1:c.636T>A ENSP00000513087.1:p.Tyr212Ter
ENST00000697073.1:c.*414T>A ENSP00000513088.2:n.*414T>A
ENST00000697074.1:c.*414T>A ENSP00000513089.2:n.*414T>A
ENST00000697075.1:c.636T>A ENSP00000513090.1:p.Tyr212Ter
ENST00000697076.1:c.636T>A ENSP00000513091.1:p.Tyr212Ter
ENST00000697077.1:c.*347T>A ENSP00000513092.1:n.*347T>A
ENST00000697078.1:c.*343T>A ENSP00000513093.1:n.*343T>A
ENST00000697079.1:n.340T>A
ENST00000697080.1:c.*500T>A ENSP00000513094.1:n.*500T>A
ENST00000697081.1:c.*253T>A ENSP00000513095.1:n.*253T>A
ENST00000697082.1:c.*822T>A ENSP00000513096.1:n.*822T>A
ENST00000697083.1:c.*496T>A ENSP00000513097.1:n.*496T>A
ENST00000697084.1:c.636T>A ENSP00000513098.1:p.Tyr212Ter
ENST00000697085.1:c.*403T>A ENSP00000513099.1:n.*403T>A
ENST00000697086.1:n.3073T>A
ENST00000697087.1:c.*556T>A ENSP00000513100.1:n.*556T>A
ENST00000697088.1:c.*253T>A ENSP00000513101.1:n.*253T>A
ENST00000697089.1:c.*556T>A ENSP00000513102.1:n.*556T>A
ENST00000697090.1:n.644T>A
ENST00000378278.7:c.636T>A MANE Select ENSP00000367527.2:p.Tyr212Ter
ENST00000357717.6:c.291T>A ENSP00000350349.2:p.Tyr97Ter
ENST00000378246.6:c.291T>A ENSP00000367492.2:p.Tyr97Ter
ENST00000378249.5:c.291T>A ENSP00000367496.1:p.Tyr97Ter
ENST00000378254.5:c.276T>A ENSP00000367502.1:p.Tyr92Ter
ENST00000378255.5:c.276T>A ENSP00000367503.1:p.Tyr92Ter
ENST00000378258.5:c.276T>A ENSP00000367506.1:p.Tyr92Ter
ENST00000378278.6:c.636T>A ENSP00000367527.2:p.Tyr212Ter
ENST00000378289.8:c.636T>A ENSP00000367538.4:p.Tyr212Ter
ENST00000396817.6:c.276T>A ENSP00000380030.2:p.Tyr92Ter
ENST00000418843.5:c.198T>A ENSP00000391428.1:p.Tyr66Ter
NM_001033855.2:c.636T>A NP_001029027.1:p.Tyr212Ter
NM_001033857.2:c.276T>A NP_001029029.1:p.Tyr92Ter
NM_001033858.2:c.276T>A NP_001029030.1:p.Tyr92Ter
NM_001289076.1:c.291T>A NP_001276005.1:p.Tyr97Ter
NM_001289077.1:c.276T>A NP_001276006.1:p.Tyr92Ter
NM_001289078.1:c.291T>A NP_001276007.1:p.Tyr97Ter
NM_001289079.1:c.276T>A NP_001276008.1:p.Tyr92Ter
NM_022487.3:c.291T>A NP_071932.2:p.Tyr97Ter
NR_110297.1:n.1270T>A
XM_006717491.2:c.291T>A XP_006717554.1:p.Tyr97Ter
XM_011519616.1:c.291T>A XP_011517918.1:p.Tyr97Ter
XM_011519617.1:c.291T>A XP_011517919.1:p.Tyr97Ter
XM_011519618.1:c.291T>A XP_011517920.1:p.Tyr97Ter
XM_011519619.1:c.276T>A XP_011517921.1:p.Tyr92Ter
XM_011519620.1:c.636T>A XP_011517922.1:p.Tyr212Ter
XM_011519621.1:c.636T>A XP_011517923.1:p.Tyr212Ter
XR_242702.2:n.733T>A
XR_930514.1:n.733T>A
XR_930515.1:n.733T>A
NM_001350965.1:c.636T>A NP_001337894.1:p.Tyr212Ter
NM_001350966.1:c.291T>A NP_001337895.1:p.Tyr97Ter
NM_001350967.1:c.276T>A NP_001337896.1:p.Tyr92Ter
NR_146960.1:n.1058T>A
NR_146961.1:n.1087T>A
NR_146962.1:n.1058T>A
XM_006717491.4:c.291T>A XP_006717554.1:p.Tyr97Ter
XM_011519620.3:c.636T>A XP_011517922.1:p.Tyr212Ter
XM_011519621.2:c.636T>A XP_011517923.1:p.Tyr212Ter
XM_017016557.1:c.291T>A XP_016872046.1:p.Tyr97Ter
XM_017016558.1:c.276T>A XP_016872047.1:p.Tyr92Ter
XM_024448134.1:c.276T>A XP_024303902.1:p.Tyr92Ter
XM_024448135.1:c.291T>A XP_024303903.1:p.Tyr97Ter
XR_001747185.2:n.980T>A
XR_001747187.1:n.616T>A
XR_930515.2:n.980T>A
NM_001033855.3:c.636T>A MANE Select NP_001029027.1:p.Tyr212Ter
NM_001033857.3:c.276T>A NP_001029029.1:p.Tyr92Ter
NM_001033858.3:c.276T>A NP_001029030.1:p.Tyr92Ter
NM_001289076.2:c.291T>A NP_001276005.1:p.Tyr97Ter
NM_001289077.2:c.276T>A NP_001276006.1:p.Tyr92Ter
NM_001289078.2:c.291T>A NP_001276007.1:p.Tyr97Ter
NM_001289079.2:c.276T>A NP_001276008.1:p.Tyr92Ter
NM_001350965.2:c.636T>A NP_001337894.1:p.Tyr212Ter
NM_001350966.2:c.291T>A NP_001337895.1:p.Tyr97Ter
NM_001350967.2:c.276T>A NP_001337896.1:p.Tyr92Ter
NM_022487.4:c.291T>A NP_071932.2:p.Tyr97Ter
NR_110297.2:n.934T>A
NR_146961.2:n.751T>A