Canonical Allele Identifier: CA393846792

Gene: BLM

Linked Data

• ClinVar Variation Id: 575451
• ClinVar RCV Id: RCV000697671
• dbSNP Id: rs1487267563
• gnomAD v4: 15-90794230-A-G
• MyVariant Identifiers: chr15:g.91337460A>G (hg19) ; chr15:g.90794230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794230A>G , CM000677.2:g.90794230A>G	GRCh38
NC_000015.9:g.91337460A>G , CM000677.1:g.91337460A>G	GRCh37
NC_000015.8:g.89138464A>G	NCBI36
NG_007272.1:g.81859A>G , LRG_20:g.81859A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3083A>G MANE Select	ENSP00000347232.3:p.His1028Arg
ENST00000560559.2:n.1656A>G
ENST00000648453.1:c.3083A>G	ENSP00000497646.1:p.His1028Arg
ENST00000680772.1:c.3083A>G	ENSP00000506117.1:p.His1028Arg
ENST00000681142.1:c.3083A>G	ENSP00000506682.1:p.His1028Arg
ENST00000355112.7:c.3083A>G	ENSP00000347232.3:p.His1028Arg
ENST00000558825.5:n.430A>G
ENST00000559724.5:c.*2007A>G	ENSP00000453359.1:n.*2007A>G
ENST00000560136.5:n.1109A>G
ENST00000560509.5:c.3083A>G	ENSP00000454158.1:p.His1028Arg
ENST00000560559.1:n.620A>G
NM_000057.3:c.3083A>G	NP_000048.1:p.His1028Arg
NM_001287246.1:c.3083A>G	NP_001274175.1:p.His1028Arg
NM_001287247.1:c.3083A>G	NP_001274176.1:p.His1028Arg
NM_001287248.1:c.1958A>G	NP_001274177.1:p.His653Arg
XM_006720632.2:c.1121A>G	XP_006720695.1:p.His374Arg
XM_011521881.1:c.1769A>G	XP_011520183.1:p.His590Arg
XM_011521881.2:c.1769A>G	XP_011520183.1:p.His590Arg
NM_000057.4:c.3083A>G MANE Select	NP_000048.1:p.His1028Arg
NM_001287246.2:c.3083A>G	NP_001274175.1:p.His1028Arg
NM_001287247.2:c.3083A>G	NP_001274176.1:p.His1028Arg
NM_001287248.2:c.1958A>G	NP_001274177.1:p.His653Arg