Canonical Allele Identifier: CA2654397532

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36073069C>A , CM000683.2:g.36073069C>A GRCh38
NC_000021.8:g.37445367C>A , CM000683.1:g.37445367C>A GRCh37
NC_000021.7:g.36367237C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290349.11:c.*187C>A (CBR1) MANE Select ENSP00000290349.6:n.*187C>A
ENST00000290349.10:c.*187C>A (CBR1) ENSP00000290349.6:n.*187C>A
ENST00000399201.5:c.-203+6236G>T (SETD4) ENSP00000382152.1:n.-203+6236G>T
ENST00000530908.5:c.*1130C>A (CBR1) ENSP00000434613.1:n.*1130C>A
NM_001286789.1:c.*1130C>A (CBR1) NP_001273718.1:n.*1130C>A
NM_001757.3:c.*187C>A (CBR1) NP_001748.1:n.*187C>A
NR_040084.1:n.377+1812G>T (CBR1-AS1)
NM_001757.4:c.*187C>A (CBR1) MANE Select NP_001748.1:n.*187C>A
NM_001286789.2:c.*1130C>A (CBR1) NP_001273718.1:n.*1130C>A