Canonical Allele Identifier: CA2580661029
Community Standard Title: NM_001757.4(CBR1):c.*133G>T
Gene: CBR1 HGNC NCBI
SETD4 HGNC NCBI
CBR1-AS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36073015G>T , CM000683.2:g.36073015G>T GRCh38
NC_000021.8:g.37445313G>T , CM000683.1:g.37445313G>T GRCh37
NC_000021.7:g.36367183G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001757.4:c.*133G>T (CBR1) MANE Select NP_001748.1:n.*133G>T
ENST00000290349.11:c.*133G>T (CBR1) MANE Select ENSP00000290349.6:n.*133G>T
NM_001286789.1:c.*1076G>T (CBR1) NP_001273718.1:n.*1076G>T
NM_001286789.2:c.*1076G>T (CBR1) NP_001273718.1:n.*1076G>T
NM_001757.3:c.*133G>T (CBR1) NP_001748.1:n.*133G>T
NR_040084.1:n.377+1866C>A (CBR1-AS1)
ENST00000290349.10:c.*133G>T (CBR1) ENSP00000290349.6:n.*133G>T
ENST00000399201.5:c.-203+6290C>A (SETD4) ENSP00000382152.1:n.-203+6290C>A
ENST00000530908.5:c.*1076G>T (CBR1) ENSP00000434613.1:n.*1076G>T
Search 100 bp 5'
Search 100 bp 3'