Canonical Allele Identifier: CA393846583

Gene: BLM

Linked Data

• ClinVar Variation Id: 1000412
• ClinVar RCV Id: RCV001296536
• dbSNP Id: rs1567056730
• MyVariant Identifiers: chr15:g.91334051C>T (hg19) ; chr15:g.90790821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790821C>T , CM000677.2:g.90790821C>T	GRCh38
NC_000015.9:g.91334051C>T , CM000677.1:g.91334051C>T	GRCh37
NC_000015.8:g.89135055C>T	NCBI36
NG_007272.1:g.78450C>T , LRG_20:g.78450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2996C>T MANE Select	ENSP00000347232.3:p.Thr999Ile
ENST00000560559.2:n.1569C>T
ENST00000648453.1:c.2996C>T	ENSP00000497646.1:p.Thr999Ile
ENST00000680772.1:c.2996C>T	ENSP00000506117.1:p.Thr999Ile
ENST00000681142.1:c.2996C>T	ENSP00000506682.1:p.Thr999Ile
ENST00000355112.7:c.2996C>T	ENSP00000347232.3:p.Thr999Ile
ENST00000559724.5:c.*1920C>T	ENSP00000453359.1:n.*1920C>T
ENST00000560136.5:n.1022C>T
ENST00000560509.5:c.2996C>T	ENSP00000454158.1:p.Thr999Ile
ENST00000560559.1:n.533C>T
NM_000057.3:c.2996C>T	NP_000048.1:p.Thr999Ile
NM_001287246.1:c.2996C>T	NP_001274175.1:p.Thr999Ile
NM_001287247.1:c.2996C>T	NP_001274176.1:p.Thr999Ile
NM_001287248.1:c.1871C>T	NP_001274177.1:p.Thr624Ile
XM_006720632.2:c.1034C>T	XP_006720695.1:p.Thr345Ile
XM_011521881.1:c.1682C>T	XP_011520183.1:p.Thr561Ile
XM_011521881.2:c.1682C>T	XP_011520183.1:p.Thr561Ile
NM_000057.4:c.2996C>T MANE Select	NP_000048.1:p.Thr999Ile
NM_001287246.2:c.2996C>T	NP_001274175.1:p.Thr999Ile
NM_001287247.2:c.2996C>T	NP_001274176.1:p.Thr999Ile
NM_001287248.2:c.1871C>T	NP_001274177.1:p.Thr624Ile