Canonical Allele Identifier: CA407923202

Gene: RBCK1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697804.1:c.538G>T	ENSP00000513444.1:p.Glu180Ter
ENST00000697805.1:c.589G>T	ENSP00000513446.1:p.Glu197Ter
ENST00000356286.10:c.538G>T MANE Select	ENSP00000348632.6:p.Glu180Ter
ENST00000640614.1:c.189G>T	ENSP00000491402.1:p.Arg63Ser
ENST00000353660.7:c.412G>T	ENSP00000254960.5:p.Glu138Ter
ENST00000356286.9:c.538G>T	ENSP00000348632.5:p.Glu180Ter
ENST00000382181.2:c.189G>T	ENSP00000371616.2:p.Arg63Ser
ENST00000382214.7:c.538G>T	ENSP00000371649.3:p.Glu180Ter
ENST00000414880.1:c.636G>T
ENST00000415942.5:c.538G>T	ENSP00000405288.1:p.Glu180Ter
NM_006462.4:c.412G>T	NP_006453.1:p.Glu138Ter
NM_031229.2:c.538G>T	NP_112506.2:p.Glu180Ter
XM_005260645.1:c.589G>T	XP_005260702.1:p.Glu197Ter
XM_011529137.1:c.712G>T	XP_011527439.1:p.Glu238Ter
XM_011529138.1:c.661G>T	XP_011527440.1:p.Glu221Ter
XM_011529139.1:c.712G>T	XP_011527441.1:p.Glu238Ter
XM_011529140.1:c.712G>T	XP_011527442.1:p.Glu238Ter
XR_430267.1:n.997G>T
XR_937029.1:n.1165G>T
NM_001323956.1:c.189G>T	NP_001310885.1:p.Arg63Ser
NM_001323958.1:c.189G>T	NP_001310887.1:p.Arg63Ser
NM_006462.5:c.412G>T	NP_006453.1:p.Glu138Ter
NM_031229.3:c.538G>T	NP_112506.2:p.Glu180Ter
NR_136659.1:n.1246G>T
XM_005260645.2:c.589G>T	XP_005260702.1:p.Glu197Ter
XM_011529137.2:c.712G>T	XP_011527439.1:p.Glu238Ter
XM_011529139.3:c.712G>T	XP_011527441.1:p.Glu238Ter
XM_011529140.2:c.712G>T	XP_011527442.1:p.Glu238Ter
XM_017027594.2:c.189G>T	XP_016883083.1:p.Arg63Ser
XM_017027595.1:c.189G>T	XP_016883084.1:p.Arg63Ser
XR_001754130.2:n.1171G>T
XR_001754131.1:n.997G>T
XR_937029.3:n.1171G>T
NM_001323958.2:c.189G>T	NP_001310887.1:p.Arg63Ser
NM_006462.6:c.412G>T	NP_006453.1:p.Glu138Ter
NM_031229.4:c.538G>T MANE Select	NP_112506.2:p.Glu180Ter
NR_136659.2:n.997G>T
NM_001323956.2:c.189G>T	NP_001310885.1:p.Arg63Ser