Canonical Allele Identifier: CA2345185955

Gene: RBCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.419357C= , CM000682.2:g.419357C=	GRCh38
NC_000020.10:g.400001C= , CM000682.1:g.400001C=	GRCh37
NC_000020.9:g.348001C=	NCBI36
NG_033233.1:g.16293C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000697804.1:c.471C=	ENSP00000513444.1:p.Phe157=
ENST00000697805.1:c.522C=	ENSP00000513446.1:p.Phe174=
ENST00000356286.10:c.471C= MANE Select	ENSP00000348632.6:p.Phe157=
ENST00000640614.1:c.122C=	ENSP00000491402.1:p.Ser41=
ENST00000353660.7:c.345C=	ENSP00000254960.5:p.Phe115=
ENST00000356286.9:c.471C=	ENSP00000348632.5:p.Phe157=
ENST00000382181.2:c.122C=	ENSP00000371616.2:p.Ser41=
ENST00000382214.7:c.471C=	ENSP00000371649.3:p.Phe157=
ENST00000414880.1:c.569C=
ENST00000415942.5:c.471C=	ENSP00000405288.1:p.Phe157=
NM_006462.4:c.345C=	NP_006453.1:p.Phe115=
NM_031229.2:c.471C=	NP_112506.2:p.Phe157=
XM_005260645.1:c.522C=	XP_005260702.1:p.Phe174=
XM_011529137.1:c.645C=	XP_011527439.1:p.Phe215=
XM_011529138.1:c.594C=	XP_011527440.1:p.Phe198=
XM_011529139.1:c.645C=	XP_011527441.1:p.Phe215=
XM_011529140.1:c.645C=	XP_011527442.1:p.Phe215=
XR_430267.1:n.930C=
XR_937029.1:n.1098C=
NM_001323956.1:c.122C=	NP_001310885.1:p.Ser41=
NM_001323958.1:c.122C=	NP_001310887.1:p.Ser41=
NM_006462.5:c.345C=	NP_006453.1:p.Phe115=
NM_031229.3:c.471C=	NP_112506.2:p.Phe157=
NR_136659.1:n.1179C=
XM_005260645.2:c.522C=	XP_005260702.1:p.Phe174=
XM_011529137.2:c.645C=	XP_011527439.1:p.Phe215=
XM_011529139.3:c.645C=	XP_011527441.1:p.Phe215=
XM_011529140.2:c.645C=	XP_011527442.1:p.Phe215=
XM_017027594.2:c.122C=	XP_016883083.1:p.Ser41=
XM_017027595.1:c.122C=	XP_016883084.1:p.Ser41=
XR_001754130.2:n.1104C=
XR_001754131.1:n.930C=
XR_937029.3:n.1104C=
NM_001323958.2:c.122C=	NP_001310887.1:p.Ser41=
NM_006462.6:c.345C=	NP_006453.1:p.Phe115=
NM_031229.4:c.471C= MANE Select	NP_112506.2:p.Phe157=
NR_136659.2:n.930C=
NM_001323956.2:c.122C=	NP_001310885.1:p.Ser41=