Canonical Allele Identifier: CA5436336
Community Standard Title: NM_005180.9(BMI1):c.112+10G>A
Gene: BMI1 HGNC NCBI
COMMD3-BMI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.22326571G>A , CM000672.2:g.22326571G>A GRCh38
NC_000010.10:g.22615500G>A , CM000672.1:g.22615500G>A GRCh37
NC_000010.9:g.22655506G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005180.9:c.112+10G>A (BMI1) MANE Select NP_005171.4:n.112+10G>A
ENST00000376663.8:c.112+10G>A (BMI1) MANE Select ENSP00000365851.3:n.112+10G>A
NM_001204062.1:c.541+10G>A (COMMD3-BMI1) NP_001190991.1:n.541+10G>A
NM_001204062.2:c.541+10G>A (COMMD3-BMI1) NP_001190991.1:n.541+10G>A
NM_005180.8:c.112+10G>A (BMI1) NP_005171.4:n.112+10G>A
ENST00000376663.7:c.112+10G>A (BMI1) ENSP00000365851.3:n.112+10G>A
ENST00000416820.5:c.112+10G>A (BMI1) ENSP00000399220.1:n.112+10G>A
ENST00000417470.1:c.236+10G>A (COMMD3-BMI1)
ENST00000442508.5:c.112+10G>A (BMI1) ENSP00000397912.1:n.112+10G>A
ENST00000443519.1:c.43+10G>A (BMI1) ENSP00000390768.1:n.43+10G>A
ENST00000456675.2:n.243+10G>A (BMI1)
ENST00000602358.5:n.194G>A (BMI1)
ENST00000602390.5:c.541+10G>A (COMMD3-BMI1) ENSP00000473391.1:n.541+10G>A
ENST00000602523.1:n.379G>A (BMI1)
ENST00000602524.1:n.285G>A (BMI1)