Canonical Allele Identifier: CA409886666

Gene: CBR1 SETD4 CBR1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36071051C>A , CM000683.2:g.36071051C>A	GRCh38
NC_000021.8:g.37443349C>A , CM000683.1:g.37443349C>A	GRCh37
NC_000021.7:g.36365219C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001757.4:c.391C>A (CBR1) MANE Select	NP_001748.1:p.Pro131Thr
ENST00000290349.11:c.391C>A (CBR1) MANE Select	ENSP00000290349.6:p.Pro131Thr
NM_001286789.1:c.391C>A (CBR1)	NP_001273718.1:p.Pro131Thr
NM_001286789.2:c.391C>A (CBR1)	NP_001273718.1:p.Pro131Thr
NM_001757.3:c.391C>A (CBR1)	NP_001748.1:p.Pro131Thr
NR_040084.1:n.378-566G>T (CBR1-AS1)
ENST00000290349.10:c.391C>A (CBR1)	ENSP00000290349.6:p.Pro131Thr
ENST00000399191.3:c.391C>A (CBR1)	ENSP00000382143.3:p.Pro131Thr
ENST00000399201.5:c.-203+8254G>T (SETD4)	ENSP00000382152.1:n.-203+8254G>T
ENST00000439427.2:c.391C>A (CBR1)	ENSP00000395132.2:p.Pro131Thr
ENST00000466328.2:n.566C>A (CBR1)
ENST00000530908.5:c.391C>A (CBR1)	ENSP00000434613.1:p.Pro131Thr