Canonical Allele Identifier: CA2387835699

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36071595T>A , CM000683.2:g.36071595T>A GRCh38
NC_000021.8:g.37443893T>A , CM000683.1:g.37443893T>A GRCh37
NC_000021.7:g.36365763T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290349.11:c.397+538T>A (CBR1) MANE Select ENSP00000290349.6:n.397+538T>A
ENST00000290349.10:c.397+538T>A (CBR1) ENSP00000290349.6:n.397+538T>A
ENST00000399191.3:c.397+538T>A (CBR1) ENSP00000382143.3:n.397+538T>A
ENST00000399201.5:c.-203+7710A>T (SETD4) ENSP00000382152.1:n.-203+7710A>T
ENST00000530908.5:c.398-220T>A (CBR1) ENSP00000434613.1:n.398-220T>A
NM_001286789.1:c.398-220T>A (CBR1) NP_001273718.1:n.398-220T>A
NM_001757.3:c.397+538T>A (CBR1) NP_001748.1:n.397+538T>A
NR_040084.1:n.378-1110A>T (CBR1-AS1)
NM_001757.4:c.397+538T>A (CBR1) MANE Select NP_001748.1:n.397+538T>A
NM_001286789.2:c.398-220T>A (CBR1) NP_001273718.1:n.398-220T>A