Canonical Allele Identifier: CA393846581

Gene: BLM

Linked Data

• gnomAD v4: 15-90790821-C-A
• MyVariant Identifiers: chr15:g.91334051C>A (hg19) ; chr15:g.90790821C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2996C>A MANE Select	ENSP00000347232.3:p.Thr999Asn
ENST00000560559.2:n.1569C>A
ENST00000648453.1:c.2996C>A	ENSP00000497646.1:p.Thr999Asn
ENST00000680772.1:c.2996C>A	ENSP00000506117.1:p.Thr999Asn
ENST00000681142.1:c.2996C>A	ENSP00000506682.1:p.Thr999Asn
ENST00000355112.7:c.2996C>A	ENSP00000347232.3:p.Thr999Asn
ENST00000559724.5:c.*1920C>A	ENSP00000453359.1:n.*1920C>A
ENST00000560136.5:n.1022C>A
ENST00000560509.5:c.2996C>A	ENSP00000454158.1:p.Thr999Asn
ENST00000560559.1:n.533C>A
NM_000057.3:c.2996C>A	NP_000048.1:p.Thr999Asn
NM_001287246.1:c.2996C>A	NP_001274175.1:p.Thr999Asn
NM_001287247.1:c.2996C>A	NP_001274176.1:p.Thr999Asn
NM_001287248.1:c.1871C>A	NP_001274177.1:p.Thr624Asn
XM_006720632.2:c.1034C>A	XP_006720695.1:p.Thr345Asn
XM_011521881.1:c.1682C>A	XP_011520183.1:p.Thr561Asn
XM_011521881.2:c.1682C>A	XP_011520183.1:p.Thr561Asn
NM_000057.4:c.2996C>A MANE Select	NP_000048.1:p.Thr999Asn
NM_001287246.2:c.2996C>A	NP_001274175.1:p.Thr999Asn
NM_001287247.2:c.2996C>A	NP_001274176.1:p.Thr999Asn
NM_001287248.2:c.1871C>A	NP_001274177.1:p.Thr624Asn