Canonical Allele Identifier: CA9723101

Gene: RBCK1

Linked Data

• dbSNP Id: rs771753077
• ExAC: 20:400001 C / A
• gnomAD v2: 20-400001-C-A
• gnomAD v4: 20-419357-C-A
• MyVariant Identifiers: chr20:g.400001C>A (hg19) ; chr20:g.419357C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000697804.1:c.471C>A	ENSP00000513444.1:p.Phe157Leu
ENST00000697805.1:c.522C>A	ENSP00000513446.1:p.Phe174Leu
ENST00000356286.10:c.471C>A MANE Select	ENSP00000348632.6:p.Phe157Leu
ENST00000640614.1:c.122C>A	ENSP00000491402.1:p.Ser41Ter
ENST00000353660.7:c.345C>A	ENSP00000254960.5:p.Phe115Leu
ENST00000356286.9:c.471C>A	ENSP00000348632.5:p.Phe157Leu
ENST00000382181.2:c.122C>A	ENSP00000371616.2:p.Ser41Ter
ENST00000382214.7:c.471C>A	ENSP00000371649.3:p.Phe157Leu
ENST00000414880.1:c.569C>A
ENST00000415942.5:c.471C>A	ENSP00000405288.1:p.Phe157Leu
NM_006462.4:c.345C>A	NP_006453.1:p.Phe115Leu
NM_031229.2:c.471C>A	NP_112506.2:p.Phe157Leu
XM_005260645.1:c.522C>A	XP_005260702.1:p.Phe174Leu
XM_011529137.1:c.645C>A	XP_011527439.1:p.Phe215Leu
XM_011529138.1:c.594C>A	XP_011527440.1:p.Phe198Leu
XM_011529139.1:c.645C>A	XP_011527441.1:p.Phe215Leu
XM_011529140.1:c.645C>A	XP_011527442.1:p.Phe215Leu
XR_430267.1:n.930C>A
XR_937029.1:n.1098C>A
NM_001323956.1:c.122C>A	NP_001310885.1:p.Ser41Ter
NM_001323958.1:c.122C>A	NP_001310887.1:p.Ser41Ter
NM_006462.5:c.345C>A	NP_006453.1:p.Phe115Leu
NM_031229.3:c.471C>A	NP_112506.2:p.Phe157Leu
NR_136659.1:n.1179C>A
XM_005260645.2:c.522C>A	XP_005260702.1:p.Phe174Leu
XM_011529137.2:c.645C>A	XP_011527439.1:p.Phe215Leu
XM_011529139.3:c.645C>A	XP_011527441.1:p.Phe215Leu
XM_011529140.2:c.645C>A	XP_011527442.1:p.Phe215Leu
XM_017027594.2:c.122C>A	XP_016883083.1:p.Ser41Ter
XM_017027595.1:c.122C>A	XP_016883084.1:p.Ser41Ter
XR_001754130.2:n.1104C>A
XR_001754131.1:n.930C>A
XR_937029.3:n.1104C>A
NM_001323958.2:c.122C>A	NP_001310887.1:p.Ser41Ter
NM_006462.6:c.345C>A	NP_006453.1:p.Phe115Leu
NM_031229.4:c.471C>A MANE Select	NP_112506.2:p.Phe157Leu
NR_136659.2:n.930C>A
NM_001323956.2:c.122C>A	NP_001310885.1:p.Ser41Ter