Canonical Allele Identifier: CA407923200

Gene: RBCK1

Linked Data

• MyVariant Identifiers: chr20:g.400068G>C (hg19) ; chr20:g.419424G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.419424G>C , CM000682.2:g.419424G>C	GRCh38
NC_000020.10:g.400068G>C , CM000682.1:g.400068G>C	GRCh37
NC_000020.9:g.348068G>C	NCBI36
NG_033233.1:g.16360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697804.1:c.538G>C	ENSP00000513444.1:p.Glu180Gln
ENST00000697805.1:c.589G>C	ENSP00000513446.1:p.Glu197Gln
ENST00000356286.10:c.538G>C MANE Select	ENSP00000348632.6:p.Glu180Gln
ENST00000640614.1:c.189G>C	ENSP00000491402.1:p.Arg63Ser
ENST00000353660.7:c.412G>C	ENSP00000254960.5:p.Glu138Gln
ENST00000356286.9:c.538G>C	ENSP00000348632.5:p.Glu180Gln
ENST00000382181.2:c.189G>C	ENSP00000371616.2:p.Arg63Ser
ENST00000382214.7:c.538G>C	ENSP00000371649.3:p.Glu180Gln
ENST00000414880.1:c.636G>C
ENST00000415942.5:c.538G>C	ENSP00000405288.1:p.Glu180Gln
NM_006462.4:c.412G>C	NP_006453.1:p.Glu138Gln
NM_031229.2:c.538G>C	NP_112506.2:p.Glu180Gln
XM_005260645.1:c.589G>C	XP_005260702.1:p.Glu197Gln
XM_011529137.1:c.712G>C	XP_011527439.1:p.Glu238Gln
XM_011529138.1:c.661G>C	XP_011527440.1:p.Glu221Gln
XM_011529139.1:c.712G>C	XP_011527441.1:p.Glu238Gln
XM_011529140.1:c.712G>C	XP_011527442.1:p.Glu238Gln
XR_430267.1:n.997G>C
XR_937029.1:n.1165G>C
NM_001323956.1:c.189G>C	NP_001310885.1:p.Arg63Ser
NM_001323958.1:c.189G>C	NP_001310887.1:p.Arg63Ser
NM_006462.5:c.412G>C	NP_006453.1:p.Glu138Gln
NM_031229.3:c.538G>C	NP_112506.2:p.Glu180Gln
NR_136659.1:n.1246G>C
XM_005260645.2:c.589G>C	XP_005260702.1:p.Glu197Gln
XM_011529137.2:c.712G>C	XP_011527439.1:p.Glu238Gln
XM_011529139.3:c.712G>C	XP_011527441.1:p.Glu238Gln
XM_011529140.2:c.712G>C	XP_011527442.1:p.Glu238Gln
XM_017027594.2:c.189G>C	XP_016883083.1:p.Arg63Ser
XM_017027595.1:c.189G>C	XP_016883084.1:p.Arg63Ser
XR_001754130.2:n.1171G>C
XR_001754131.1:n.997G>C
XR_937029.3:n.1171G>C
NM_001323958.2:c.189G>C	NP_001310887.1:p.Arg63Ser
NM_006462.6:c.412G>C	NP_006453.1:p.Glu138Gln
NM_031229.4:c.538G>C MANE Select	NP_112506.2:p.Glu180Gln
NR_136659.2:n.997G>C
NM_001323956.2:c.189G>C	NP_001310885.1:p.Arg63Ser