Canonical Allele Identifier: CA393846837

Gene: BLM

Linked Data

• ClinVar Variation Id: 967424
• ClinVar RCV Id: RCV001242329
• dbSNP Id: rs753652339
• gnomAD v4: 15-90794248-C-A
• MyVariant Identifiers: chr15:g.91337478C>A (hg19) ; chr15:g.90794248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794248C>A , CM000677.2:g.90794248C>A	GRCh38
NC_000015.9:g.91337478C>A , CM000677.1:g.91337478C>A	GRCh37
NC_000015.8:g.89138482C>A	NCBI36
NG_007272.1:g.81877C>A , LRG_20:g.81877C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3101C>A MANE Select	ENSP00000347232.3:p.Thr1034Lys
ENST00000560559.2:n.1674C>A
ENST00000648453.1:c.3101C>A	ENSP00000497646.1:p.Thr1034Lys
ENST00000680772.1:c.3101C>A	ENSP00000506117.1:p.Thr1034Lys
ENST00000681142.1:c.3101C>A	ENSP00000506682.1:p.Thr1034Lys
ENST00000355112.7:c.3101C>A	ENSP00000347232.3:p.Thr1034Lys
ENST00000558825.5:n.448C>A
ENST00000559724.5:c.*2025C>A	ENSP00000453359.1:n.*2025C>A
ENST00000560136.5:n.1127C>A
ENST00000560509.5:c.3101C>A	ENSP00000454158.1:p.Thr1034Lys
ENST00000560559.1:n.638C>A
NM_000057.3:c.3101C>A	NP_000048.1:p.Thr1034Lys
NM_001287246.1:c.3101C>A	NP_001274175.1:p.Thr1034Lys
NM_001287247.1:c.3101C>A	NP_001274176.1:p.Thr1034Lys
NM_001287248.1:c.1976C>A	NP_001274177.1:p.Thr659Lys
XM_006720632.2:c.1139C>A	XP_006720695.1:p.Thr380Lys
XM_011521881.1:c.1787C>A	XP_011520183.1:p.Thr596Lys
XM_011521881.2:c.1787C>A	XP_011520183.1:p.Thr596Lys
NM_000057.4:c.3101C>A MANE Select	NP_000048.1:p.Thr1034Lys
NM_001287246.2:c.3101C>A	NP_001274175.1:p.Thr1034Lys
NM_001287247.2:c.3101C>A	NP_001274176.1:p.Thr1034Lys
NM_001287248.2:c.1976C>A	NP_001274177.1:p.Thr659Lys