Canonical Allele Identifier: CA344516

Gene: BLM

Linked Data

• ClinVar Variation Id: 1330099
• ClinVar RCV Id: RCV001801116 ; RCV001869452
• dbSNP Id: rs367543023
• gnomAD v4: 15-90790712-C-T
• MyVariant Identifiers: chr15:g.91333942C>T (hg19) ; chr15:g.90790712C>T (hg38)
• PubMed: PMID:20301572

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790712C>T , CM000677.2:g.90790712C>T	GRCh38
NC_000015.9:g.91333942C>T , CM000677.1:g.91333942C>T	GRCh37
NC_000015.8:g.89134946C>T	NCBI36
NG_007272.1:g.78341C>T , LRG_20:g.78341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2887C>T MANE Select	ENSP00000347232.3:p.His963Tyr
ENST00000560559.2:n.1460C>T
ENST00000648453.1:c.2887C>T	ENSP00000497646.1:p.His963Tyr
ENST00000680772.1:c.2887C>T	ENSP00000506117.1:p.His963Tyr
ENST00000681142.1:c.2887C>T	ENSP00000506682.1:p.His963Tyr
ENST00000355112.7:c.2887C>T	ENSP00000347232.3:p.His963Tyr
ENST00000559724.5:c.*1811C>T	ENSP00000453359.1:n.*1811C>T
ENST00000560136.5:n.913C>T
ENST00000560509.5:c.2887C>T	ENSP00000454158.1:p.His963Tyr
ENST00000560559.1:n.424C>T
NM_000057.3:c.2887C>T	NP_000048.1:p.His963Tyr
NM_001287246.1:c.2887C>T	NP_001274175.1:p.His963Tyr
NM_001287247.1:c.2887C>T	NP_001274176.1:p.His963Tyr
NM_001287248.1:c.1762C>T	NP_001274177.1:p.His588Tyr
XM_006720632.2:c.925C>T	XP_006720695.1:p.His309Tyr
XM_011521881.1:c.1573C>T	XP_011520183.1:p.His525Tyr
XM_011521881.2:c.1573C>T	XP_011520183.1:p.His525Tyr
NM_000057.4:c.2887C>T MANE Select	NP_000048.1:p.His963Tyr
NM_001287246.2:c.2887C>T	NP_001274175.1:p.His963Tyr
NM_001287247.2:c.2887C>T	NP_001274176.1:p.His963Tyr
NM_001287248.2:c.1762C>T	NP_001274177.1:p.His588Tyr