Canonical Allele Identifier: CA9723199

Gene: RBCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.420921C>G , CM000682.2:g.420921C>G	GRCh38
NC_000020.10:g.401565C>G , CM000682.1:g.401565C>G	GRCh37
NC_000020.9:g.349565C>G	NCBI36
NG_033233.1:g.17857C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031229.4:c.807C>G MANE Select	NP_112506.2:p.Asp269Glu
ENST00000356286.10:c.807C>G MANE Select	ENSP00000348632.6:p.Asp269Glu
NM_001323956.1:c.407+1190C>G	NP_001310885.1:n.407+1190C>G
NM_001323956.2:c.407+1190C>G	NP_001310885.1:n.407+1190C>G
NM_001323958.1:c.407+1190C>G	NP_001310887.1:n.407+1190C>G
NM_001323958.2:c.407+1190C>G	NP_001310887.1:n.407+1190C>G
NM_006462.4:c.681C>G	NP_006453.1:p.Asp227Glu
NM_006462.5:c.681C>G	NP_006453.1:p.Asp227Glu
NM_006462.6:c.681C>G	NP_006453.1:p.Asp227Glu
NM_031229.2:c.807C>G	NP_112506.2:p.Asp269Glu
NM_031229.3:c.807C>G	NP_112506.2:p.Asp269Glu
NR_136659.1:n.1515C>G
NR_136659.2:n.1266C>G
ENST00000353660.7:c.681C>G	ENSP00000254960.5:p.Asp227Glu
ENST00000356286.9:c.807C>G	ENSP00000348632.5:p.Asp269Glu
ENST00000382181.2:c.407+1190C>G	ENSP00000371616.2:n.407+1190C>G
ENST00000382214.7:c.807C>G	ENSP00000371649.3:p.Asp269Glu
ENST00000415942.5:c.756+1190C>G	ENSP00000405288.1:n.756+1190C>G
ENST00000640614.1:c.407+1190C>G	ENSP00000491402.1:n.407+1190C>G
ENST00000697804.1:c.807C>G	ENSP00000513444.1:p.Asp269Glu
ENST00000697805.1:c.858C>G	ENSP00000513446.1:p.Asp286Glu
XM_005260645.1:c.858C>G	XP_005260702.1:p.Asp286Glu
XM_005260645.2:c.858C>G	XP_005260702.1:p.Asp286Glu
XM_011529137.1:c.981C>G	XP_011527439.1:p.Asp327Glu
XM_011529137.2:c.981C>G	XP_011527439.1:p.Asp327Glu
XM_011529138.1:c.930C>G	XP_011527440.1:p.Asp310Glu
XM_011529139.1:c.981C>G	XP_011527441.1:p.Asp327Glu
XM_011529139.3:c.981C>G	XP_011527441.1:p.Asp327Glu
XM_017027594.2:c.407+1190C>G	XP_016883083.1:n.407+1190C>G
XM_017027595.1:c.407+1190C>G	XP_016883084.1:n.407+1190C>G
XR_001754130.2:n.1389+1190C>G
XR_001754131.1:n.1215+1190C>G
XR_430267.1:n.1215+1190C>G
XR_937029.1:n.1383+1190C>G
XR_937029.3:n.1389+1190C>G