Canonical Allele Identifier: CA393844891
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1060697
dbSNP Id: rs1424485988

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90766970C>A , CM000677.2:g.90766970C>A GRCh38
NC_000015.9:g.91310200C>A , CM000677.1:g.91310200C>A GRCh37
NC_000015.8:g.89111204C>A NCBI36
NG_007272.1:g.54599C>A , LRG_20:g.54599C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.2254C>A MANE Select ENSP00000347232.3:p.Gln752Lys
ENST00000648453.1:c.2254C>A ENSP00000497646.1:p.Gln752Lys
ENST00000680772.1:c.2254C>A ENSP00000506117.1:p.Gln752Lys
ENST00000681142.1:c.2254C>A ENSP00000506682.1:p.Gln752Lys
ENST00000355112.7:c.2254C>A ENSP00000347232.3:p.Gln752Lys
ENST00000559426.5:n.431C>A
ENST00000559724.5:c.*1178C>A ENSP00000453359.1:n.*1178C>A
ENST00000560136.5:n.280C>A
ENST00000560509.5:c.2254C>A ENSP00000454158.1:p.Gln752Lys
NM_000057.3:c.2254C>A NP_000048.1:p.Gln752Lys
NM_001287246.1:c.2254C>A NP_001274175.1:p.Gln752Lys
NM_001287247.1:c.2254C>A NP_001274176.1:p.Gln752Lys
NM_001287248.1:c.1129C>A NP_001274177.1:p.Gln377Lys
XM_006720632.2:c.292C>A XP_006720695.1:p.Gln98Lys
XM_011521881.1:c.940C>A XP_011520183.1:p.Gln314Lys
XM_011521882.1:c.2254C>A XP_011520184.1:p.Gln752Lys
XM_011521881.2:c.940C>A XP_011520183.1:p.Gln314Lys
XM_011521882.3:c.2254C>A XP_011520184.1:p.Gln752Lys
NM_000057.4:c.2254C>A MANE Select NP_000048.1:p.Gln752Lys
NM_001287246.2:c.2254C>A NP_001274175.1:p.Gln752Lys
NM_001287247.2:c.2254C>A NP_001274176.1:p.Gln752Lys
NM_001287248.2:c.1129C>A NP_001274177.1:p.Gln377Lys