Canonical Allele Identifier: CA157379

Gene: BLM

Linked Data

• ClinVar Variation Id: 133697
• ClinVar RCV Id: RCV000120225 ; RCV000469034 ; RCV000566842 ; RCV000731068 ; RCV003492521 ; RCV003905143
• dbSNP Id: rs142551229
• ExAC: 15:91310209 A / G
• gnomAD v2: 15-91310209-A-G
• gnomAD v3: 15-90766979-A-G
• gnomAD v4: 15-90766979-A-G
• MyVariant Identifiers: chr15:g.91310209A>G (hg19) ; chr15:g.90766979A>G (hg38)
• PubMed: PMID:23129629 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766979A>G , CM000677.2:g.90766979A>G	GRCh38
NC_000015.9:g.91310209A>G , CM000677.1:g.91310209A>G	GRCh37
NC_000015.8:g.89111213A>G	NCBI36
NG_007272.1:g.54608A>G , LRG_20:g.54608A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2263A>G MANE Select	ENSP00000347232.3:p.Lys755Glu
ENST00000648453.1:c.2263A>G	ENSP00000497646.1:p.Lys755Glu
ENST00000680772.1:c.2263A>G	ENSP00000506117.1:p.Lys755Glu
ENST00000681142.1:c.2263A>G	ENSP00000506682.1:p.Lys755Glu
ENST00000355112.7:c.2263A>G	ENSP00000347232.3:p.Lys755Glu
ENST00000559426.5:n.440A>G
ENST00000559724.5:c.*1187A>G	ENSP00000453359.1:n.*1187A>G
ENST00000560136.5:n.289A>G
ENST00000560509.5:c.2263A>G	ENSP00000454158.1:p.Lys755Glu
NM_000057.3:c.2263A>G	NP_000048.1:p.Lys755Glu
NM_001287246.1:c.2263A>G	NP_001274175.1:p.Lys755Glu
NM_001287247.1:c.2263A>G	NP_001274176.1:p.Lys755Glu
NM_001287248.1:c.1138A>G	NP_001274177.1:p.Lys380Glu
XM_006720632.2:c.301A>G	XP_006720695.1:p.Lys101Glu
XM_011521881.1:c.949A>G	XP_011520183.1:p.Lys317Glu
XM_011521882.1:c.2263A>G	XP_011520184.1:p.Lys755Glu
XM_011521881.2:c.949A>G	XP_011520183.1:p.Lys317Glu
XM_011521882.3:c.2263A>G	XP_011520184.1:p.Lys755Glu
NM_000057.4:c.2263A>G MANE Select	NP_000048.1:p.Lys755Glu
NM_001287246.2:c.2263A>G	NP_001274175.1:p.Lys755Glu
NM_001287247.2:c.2263A>G	NP_001274176.1:p.Lys755Glu
NM_001287248.2:c.1138A>G	NP_001274177.1:p.Lys380Glu