Canonical Allele Identifier: CA274191

Gene: BLM

Linked Data

• ClinVar Variation Id: 188963
• ClinVar RCV Id: RCV000169338 ; RCV001014085 ; RCV001310295
• dbSNP Id: rs747281324
• ExAC: 15:91306328 A / G
• gnomAD v2: 15-91306328-A-G
• gnomAD v3: 15-90763098-A-G
• gnomAD v4: 15-90763098-A-G
• MyVariant Identifiers: chr15:g.91306328A>G (hg19) ; chr15:g.90763098A>G (hg38)
• PubMed: PMID:7585968 ; PMID:9840919 ; PMID:10069810 ; PMID:10812332 ; PMID:10965492 ; PMID:12444098 ; PMID:15579905 ; PMID:17407155 ; PMID:17878217 ; PMID:22582397 ; PMID:22885301 ; PMID:23276657

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90763098A>G , CM000677.2:g.90763098A>G	GRCh38
NC_000015.9:g.91306328A>G , CM000677.1:g.91306328A>G	GRCh37
NC_000015.8:g.89107332A>G	NCBI36
NG_007272.1:g.50727A>G , LRG_20:g.50727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2015A>G MANE Select	ENSP00000347232.3:p.Gln672Arg
ENST00000648453.1:c.2015A>G	ENSP00000497646.1:p.Gln672Arg
ENST00000680772.1:c.2015A>G	ENSP00000506117.1:p.Gln672Arg
ENST00000681142.1:c.2015A>G	ENSP00000506682.1:p.Gln672Arg
ENST00000355112.7:c.2015A>G	ENSP00000347232.3:p.Gln672Arg
ENST00000559426.5:n.192A>G
ENST00000559724.5:c.*939A>G	ENSP00000453359.1:n.*939A>G
ENST00000560136.5:n.160A>G
ENST00000560509.5:c.2015A>G	ENSP00000454158.1:p.Gln672Arg
NM_000057.3:c.2015A>G	NP_000048.1:p.Gln672Arg
NM_001287246.1:c.2015A>G	NP_001274175.1:p.Gln672Arg
NM_001287247.1:c.2015A>G	NP_001274176.1:p.Gln672Arg
NM_001287248.1:c.890A>G	NP_001274177.1:p.Gln297Arg
XM_006720632.2:c.53A>G	XP_006720695.1:p.Gln18Arg
XM_011521881.1:c.701A>G	XP_011520183.1:p.Gln234Arg
XM_011521882.1:c.2015A>G	XP_011520184.1:p.Gln672Arg
XM_011521881.2:c.701A>G	XP_011520183.1:p.Gln234Arg
XM_011521882.3:c.2015A>G	XP_011520184.1:p.Gln672Arg
NM_000057.4:c.2015A>G MANE Select	NP_000048.1:p.Gln672Arg
NM_001287246.2:c.2015A>G	NP_001274175.1:p.Gln672Arg
NM_001287247.2:c.2015A>G	NP_001274176.1:p.Gln672Arg
NM_001287248.2:c.890A>G	NP_001274177.1:p.Gln297Arg