Canonical Allele Identifier: CA393846147

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90785059G>A , CM000677.2:g.90785059G>A	GRCh38
NC_000015.9:g.91328289G>A , CM000677.1:g.91328289G>A	GRCh37
NC_000015.8:g.89129293G>A	NCBI36
NG_007272.1:g.72688G>A , LRG_20:g.72688G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.2801G>A MANE Select	NP_000048.1:p.Trp934Ter
ENST00000355112.8:c.2801G>A MANE Select	ENSP00000347232.3:p.Trp934Ter
NM_000057.3:c.2801G>A	NP_000048.1:p.Trp934Ter
NM_001287246.1:c.2801G>A	NP_001274175.1:p.Trp934Ter
NM_001287246.2:c.2801G>A	NP_001274175.1:p.Trp934Ter
NM_001287247.1:c.2801G>A	NP_001274176.1:p.Trp934Ter
NM_001287247.2:c.2801G>A	NP_001274176.1:p.Trp934Ter
NM_001287248.1:c.1676G>A	NP_001274177.1:p.Trp559Ter
NM_001287248.2:c.1676G>A	NP_001274177.1:p.Trp559Ter
ENST00000355112.7:c.2801G>A	ENSP00000347232.3:p.Trp934Ter
ENST00000559724.5:c.*1725G>A	ENSP00000453359.1:n.*1725G>A
ENST00000560136.5:n.827G>A
ENST00000560509.5:c.2801G>A	ENSP00000454158.1:p.Trp934Ter
ENST00000648453.1:c.2801G>A	ENSP00000497646.1:p.Trp934Ter
ENST00000680772.1:c.2801G>A	ENSP00000506117.1:p.Trp934Ter
ENST00000681142.1:c.2801G>A	ENSP00000506682.1:p.Trp934Ter
XM_006720632.2:c.839G>A	XP_006720695.1:p.Trp280Ter
XM_011521881.1:c.1487G>A	XP_011520183.1:p.Trp496Ter
XM_011521881.2:c.1487G>A	XP_011520183.1:p.Trp496Ter