Canonical Allele Identifier: CA7739151

Gene: BLM

Linked Data

• ClinVar Variation Id: 370814
• ClinVar RCV Id: RCV000409613 ; RCV001021334 ; RCV001090940
• dbSNP Id: rs150421256
• ExAC: 15:91354433 A / G
• gnomAD v2: 15-91354433-A-G
• gnomAD v4: 15-90811203-A-G
• MyVariant Identifiers: chr15:g.91354433A>G (hg19) ; chr15:g.90811203A>G (hg38)
• PubMed: PMID:26247052

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811203A>G , CM000677.2:g.90811203A>G	GRCh38
NC_000015.9:g.91354433A>G , CM000677.1:g.91354433A>G	GRCh37
NC_000015.8:g.89155437A>G	NCBI36
NG_007272.1:g.98832A>G , LRG_20:g.98832A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3875-2A>G MANE Select	ENSP00000347232.3:n.3875-2A>G
ENST00000560559.2:n.2448-2A>G
ENST00000648453.1:c.3875-2A>G	ENSP00000497646.1:n.3875-2A>G
ENST00000680772.1:c.3875-2A>G	ENSP00000506117.1:n.3875-2A>G
ENST00000681142.1:c.3875-2A>G	ENSP00000506682.1:n.3875-2A>G
ENST00000355112.7:c.3875-2A>G	ENSP00000347232.3:n.3875-2A>G
ENST00000558825.5:n.1222-2A>G
ENST00000559724.5:c.*2799-2A>G	ENSP00000453359.1:n.*2799-2A>G
ENST00000560136.5:n.1901-2A>G
ENST00000560509.5:c.3482-2A>G	ENSP00000454158.1:n.3482-2A>G
ENST00000560821.1:n.295-2A>G
NM_000057.3:c.3875-2A>G	NP_000048.1:n.3875-2A>G
NM_001287246.1:c.3875-2A>G	NP_001274175.1:n.3875-2A>G
NM_001287247.1:c.3482-2A>G	NP_001274176.1:n.3482-2A>G
NM_001287248.1:c.2750-2A>G	NP_001274177.1:n.2750-2A>G
XM_006720632.2:c.1913-2A>G	XP_006720695.1:n.1913-2A>G
XM_011521881.1:c.2561-2A>G	XP_011520183.1:n.2561-2A>G
XM_011521881.2:c.2561-2A>G	XP_011520183.1:n.2561-2A>G
NM_000057.4:c.3875-2A>G MANE Select	NP_000048.1:n.3875-2A>G
NM_001287246.2:c.3875-2A>G	NP_001274175.1:n.3875-2A>G
NM_001287247.2:c.3482-2A>G	NP_001274176.1:n.3482-2A>G
NM_001287248.2:c.2750-2A>G	NP_001274177.1:n.2750-2A>G