Canonical Allele Identifier: CA393846341

Gene: BLM

Linked Data

• ClinVar Variation Id: 1428929
• ClinVar RCV Id: RCV001936557 ; RCV002441059
• dbSNP Id: rs1896883323
• gnomAD v4: 15-90790709-A-T
• MyVariant Identifiers: chr15:g.91333939A>T (hg19) ; chr15:g.90790709A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790709A>T , CM000677.2:g.90790709A>T	GRCh38
NC_000015.9:g.91333939A>T , CM000677.1:g.91333939A>T	GRCh37
NC_000015.8:g.89134943A>T	NCBI36
NG_007272.1:g.78338A>T , LRG_20:g.78338A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2884A>T MANE Select	ENSP00000347232.3:p.Ile962Phe
ENST00000560559.2:n.1457A>T
ENST00000648453.1:c.2884A>T	ENSP00000497646.1:p.Ile962Phe
ENST00000680772.1:c.2884A>T	ENSP00000506117.1:p.Ile962Phe
ENST00000681142.1:c.2884A>T	ENSP00000506682.1:p.Ile962Phe
ENST00000355112.7:c.2884A>T	ENSP00000347232.3:p.Ile962Phe
ENST00000559724.5:c.*1808A>T	ENSP00000453359.1:n.*1808A>T
ENST00000560136.5:n.910A>T
ENST00000560509.5:c.2884A>T	ENSP00000454158.1:p.Ile962Phe
ENST00000560559.1:n.421A>T
NM_000057.3:c.2884A>T	NP_000048.1:p.Ile962Phe
NM_001287246.1:c.2884A>T	NP_001274175.1:p.Ile962Phe
NM_001287247.1:c.2884A>T	NP_001274176.1:p.Ile962Phe
NM_001287248.1:c.1759A>T	NP_001274177.1:p.Ile587Phe
XM_006720632.2:c.922A>T	XP_006720695.1:p.Ile308Phe
XM_011521881.1:c.1570A>T	XP_011520183.1:p.Ile524Phe
XM_011521881.2:c.1570A>T	XP_011520183.1:p.Ile524Phe
NM_000057.4:c.2884A>T MANE Select	NP_000048.1:p.Ile962Phe
NM_001287246.2:c.2884A>T	NP_001274175.1:p.Ile962Phe
NM_001287247.2:c.2884A>T	NP_001274176.1:p.Ile962Phe
NM_001287248.2:c.1759A>T	NP_001274177.1:p.Ile587Phe