Canonical Allele Identifier: CA2387835435
Community Standard Title: NM_001757.4(CBR1):c.391C= (p.Pro131=)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001757.4:c.391C= (CBR1) MANE Select NP_001748.1:p.Pro131=
ENST00000290349.11:c.391C= (CBR1) MANE Select ENSP00000290349.6:p.Pro131=
NM_001286789.1:c.391C= (CBR1) NP_001273718.1:p.Pro131=
NM_001286789.2:c.391C= (CBR1) NP_001273718.1:p.Pro131=
NM_001757.3:c.391C= (CBR1) NP_001748.1:p.Pro131=
NR_040084.1:n.378-566G= (CBR1-AS1)
ENST00000290349.10:c.391C= (CBR1) ENSP00000290349.6:p.Pro131=
ENST00000399191.3:c.391C= (CBR1) ENSP00000382143.3:p.Pro131=
ENST00000399201.5:c.-203+8254G= (SETD4) ENSP00000382152.1:n.-203+8254G=
ENST00000439427.2:c.391C= (CBR1) ENSP00000395132.2:p.Pro131=
ENST00000466328.2:n.566C= (CBR1)
ENST00000530908.5:c.391C= (CBR1) ENSP00000434613.1:p.Pro131=