Canonical Allele Identifier: CA492157825

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354532C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811302C>T , CM000677.2:g.90811302C>T	GRCh38
NC_000015.9:g.91354532C>T , CM000677.1:g.91354532C>T	GRCh37
NC_000015.8:g.89155536C>T	NCBI36
NG_007272.1:g.98931C>T , LRG_20:g.98931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3972C>T MANE Select	ENSP00000347232.3:p.His1324=
ENST00000560559.2:n.2545C>T
ENST00000648453.1:c.3972C>T	ENSP00000497646.1:p.His1324=
ENST00000680772.1:c.3972C>T	ENSP00000506117.1:p.His1324=
ENST00000681142.1:c.3972C>T	ENSP00000506682.1:p.His1324=
ENST00000355112.7:c.3972C>T	ENSP00000347232.3:p.His1324=
ENST00000558825.5:n.1319C>T
ENST00000559724.5:c.*2896C>T	ENSP00000453359.1:n.*2896C>T
ENST00000560136.5:n.1998C>T
ENST00000560509.5:c.3579C>T	ENSP00000454158.1:p.His1193=
ENST00000560821.1:n.392C>T
NM_000057.3:c.3972C>T	NP_000048.1:p.His1324=
NM_001287246.1:c.3972C>T	NP_001274175.1:p.His1324=
NM_001287247.1:c.3579C>T	NP_001274176.1:p.His1193=
NM_001287248.1:c.2847C>T	NP_001274177.1:p.His949=
XM_006720632.2:c.2010C>T	XP_006720695.1:p.His670=
XM_011521881.1:c.2658C>T	XP_011520183.1:p.His886=
XM_011521881.2:c.2658C>T	XP_011520183.1:p.His886=
NM_000057.4:c.3972C>T MANE Select	NP_000048.1:p.His1324=
NM_001287246.2:c.3972C>T	NP_001274175.1:p.His1324=
NM_001287247.2:c.3579C>T	NP_001274176.1:p.His1193=
NM_001287248.2:c.2847C>T	NP_001274177.1:p.His949=