Canonical Allele Identifier: CA2387836146
Community Standard Title: NM_001757.4(CBR1):c.627C= (p.Ala209=)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36072675C= , CM000683.2:g.36072675C= GRCh38
NC_000021.8:g.37444973C= , CM000683.1:g.37444973C= GRCh37
NC_000021.7:g.36366843C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001757.4:c.627C= (CBR1) MANE Select NP_001748.1:p.Ala209=
ENST00000290349.11:c.627C= (CBR1) MANE Select ENSP00000290349.6:p.Ala209=
NM_001286789.1:c.*736C= (CBR1) NP_001273718.1:n.*736C=
NM_001286789.2:c.*736C= (CBR1) NP_001273718.1:n.*736C=
NM_001757.3:c.627C= (CBR1) NP_001748.1:p.Ala209=
NR_040084.1:n.378-2190G= (CBR1-AS1)
ENST00000290349.10:c.627C= (CBR1) ENSP00000290349.6:p.Ala209=
ENST00000399201.5:c.-203+6630G= (SETD4) ENSP00000382152.1:n.-203+6630G=
ENST00000530908.5:c.*736C= (CBR1) ENSP00000434613.1:n.*736C=