Canonical Allele Identifier: CA273735
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 180588
dbSNP Id: rs730880251

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90811279G>A , CM000677.2:g.90811279G>A GRCh38
NC_000015.9:g.91354509G>A , CM000677.1:g.91354509G>A GRCh37
NC_000015.8:g.89155513G>A NCBI36
NG_007272.1:g.98908G>A , LRG_20:g.98908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3949G>A MANE Select ENSP00000347232.3:p.Glu1317Lys
ENST00000560559.2:n.2522G>A
ENST00000648453.1:c.3949G>A ENSP00000497646.1:p.Glu1317Lys
ENST00000680772.1:c.3949G>A ENSP00000506117.1:p.Glu1317Lys
ENST00000681142.1:c.3949G>A ENSP00000506682.1:p.Glu1317Lys
ENST00000355112.7:c.3949G>A ENSP00000347232.3:p.Glu1317Lys
ENST00000558825.5:n.1296G>A
ENST00000559724.5:c.*2873G>A ENSP00000453359.1:n.*2873G>A
ENST00000560136.5:n.1975G>A
ENST00000560509.5:c.3556G>A ENSP00000454158.1:p.Glu1186Lys
ENST00000560821.1:n.369G>A
NM_000057.3:c.3949G>A NP_000048.1:p.Glu1317Lys
NM_001287246.1:c.3949G>A NP_001274175.1:p.Glu1317Lys
NM_001287247.1:c.3556G>A NP_001274176.1:p.Glu1186Lys
NM_001287248.1:c.2824G>A NP_001274177.1:p.Glu942Lys
XM_006720632.2:c.1987G>A XP_006720695.1:p.Glu663Lys
XM_011521881.1:c.2635G>A XP_011520183.1:p.Glu879Lys
XM_011521881.2:c.2635G>A XP_011520183.1:p.Glu879Lys
NM_000057.4:c.3949G>A MANE Select NP_000048.1:p.Glu1317Lys
NM_001287246.2:c.3949G>A NP_001274175.1:p.Glu1317Lys
NM_001287247.2:c.3556G>A NP_001274176.1:p.Glu1186Lys
NM_001287248.2:c.2824G>A NP_001274177.1:p.Glu942Lys