Canonical Allele Identifier: CA2195302385

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811335G= , CM000677.2:g.90811335G=	GRCh38
NC_000015.9:g.91354565G= , CM000677.1:g.91354565G=	GRCh37
NC_000015.8:g.89155569G=	NCBI36
NG_007272.1:g.98964G= , LRG_20:g.98964G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4005G= MANE Select	ENSP00000347232.3:p.Lys1335=
ENST00000560559.2:n.2578G=
ENST00000648453.1:c.4005G=	ENSP00000497646.1:p.Lys1335=
ENST00000680772.1:c.4005G=	ENSP00000506117.1:p.Lys1335=
ENST00000681142.1:c.4005G=	ENSP00000506682.1:p.Lys1335=
ENST00000355112.7:c.4005G=	ENSP00000347232.3:p.Lys1335=
ENST00000558825.5:n.1352G=
ENST00000559724.5:c.*2929G=	ENSP00000453359.1:n.*2929G=
ENST00000560509.5:c.3612G=	ENSP00000454158.1:p.Lys1204=
ENST00000560821.1:n.425G=
NM_000057.3:c.4005G=	NP_000048.1:p.Lys1335=
NM_001287246.1:c.4005G=	NP_001274175.1:p.Lys1335=
NM_001287247.1:c.3612G=	NP_001274176.1:p.Lys1204=
NM_001287248.1:c.2880G=	NP_001274177.1:p.Lys960=
XM_006720632.2:c.2043G=	XP_006720695.1:p.Lys681=
XM_011521881.1:c.2691G=	XP_011520183.1:p.Lys897=
XM_011521881.2:c.2691G=	XP_011520183.1:p.Lys897=
NM_000057.4:c.4005G= MANE Select	NP_000048.1:p.Lys1335=
NM_001287246.2:c.4005G=	NP_001274175.1:p.Lys1335=
NM_001287247.2:c.3612G=	NP_001274176.1:p.Lys1204=
NM_001287248.2:c.2880G=	NP_001274177.1:p.Lys960=