Canonical Allele Identifier: CA393846396

Gene: BLM

Linked Data

• ClinVar Variation Id: 1428408
• ClinVar RCV Id: RCV001948269
• dbSNP Id: rs2151184569
• gnomAD v4: 15-90790736-G-A
• MyVariant Identifiers: chr15:g.91333966G>A (hg19) ; chr15:g.90790736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790736G>A , CM000677.2:g.90790736G>A	GRCh38
NC_000015.9:g.91333966G>A , CM000677.1:g.91333966G>A	GRCh37
NC_000015.8:g.89134970G>A	NCBI36
NG_007272.1:g.78365G>A , LRG_20:g.78365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2911G>A MANE Select	ENSP00000347232.3:p.Glu971Lys
ENST00000560559.2:n.1484G>A
ENST00000648453.1:c.2911G>A	ENSP00000497646.1:p.Glu971Lys
ENST00000680772.1:c.2911G>A	ENSP00000506117.1:p.Glu971Lys
ENST00000681142.1:c.2911G>A	ENSP00000506682.1:p.Glu971Lys
ENST00000355112.7:c.2911G>A	ENSP00000347232.3:p.Glu971Lys
ENST00000559724.5:c.*1835G>A	ENSP00000453359.1:n.*1835G>A
ENST00000560136.5:n.937G>A
ENST00000560509.5:c.2911G>A	ENSP00000454158.1:p.Glu971Lys
ENST00000560559.1:n.448G>A
NM_000057.3:c.2911G>A	NP_000048.1:p.Glu971Lys
NM_001287246.1:c.2911G>A	NP_001274175.1:p.Glu971Lys
NM_001287247.1:c.2911G>A	NP_001274176.1:p.Glu971Lys
NM_001287248.1:c.1786G>A	NP_001274177.1:p.Glu596Lys
XM_006720632.2:c.949G>A	XP_006720695.1:p.Glu317Lys
XM_011521881.1:c.1597G>A	XP_011520183.1:p.Glu533Lys
XM_011521881.2:c.1597G>A	XP_011520183.1:p.Glu533Lys
NM_000057.4:c.2911G>A MANE Select	NP_000048.1:p.Glu971Lys
NM_001287246.2:c.2911G>A	NP_001274175.1:p.Glu971Lys
NM_001287247.2:c.2911G>A	NP_001274176.1:p.Glu971Lys
NM_001287248.2:c.1786G>A	NP_001274177.1:p.Glu596Lys