Canonical Allele Identifier: CA2195297319

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794261A= , CM000677.2:g.90794261A=	GRCh38
NC_000015.9:g.91337491A= , CM000677.1:g.91337491A=	GRCh37
NC_000015.8:g.89138495A=	NCBI36
NG_007272.1:g.81890A= , LRG_20:g.81890A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3114A= MANE Select	ENSP00000347232.3:p.Arg1038=
ENST00000560559.2:n.1687A=
ENST00000648453.1:c.3114A=	ENSP00000497646.1:p.Arg1038=
ENST00000680772.1:c.3114A=	ENSP00000506117.1:p.Arg1038=
ENST00000681142.1:c.3114A=	ENSP00000506682.1:p.Arg1038=
ENST00000355112.7:c.3114A=	ENSP00000347232.3:p.Arg1038=
ENST00000558825.5:n.461A=
ENST00000559724.5:c.*2038A=	ENSP00000453359.1:n.*2038A=
ENST00000560136.5:n.1140A=
ENST00000560509.5:c.3114A=	ENSP00000454158.1:p.Arg1038=
ENST00000560559.1:n.651A=
NM_000057.3:c.3114A=	NP_000048.1:p.Arg1038=
NM_001287246.1:c.3114A=	NP_001274175.1:p.Arg1038=
NM_001287247.1:c.3114A=	NP_001274176.1:p.Arg1038=
NM_001287248.1:c.1989A=	NP_001274177.1:p.Arg663=
XM_006720632.2:c.1152A=	XP_006720695.1:p.Arg384=
XM_011521881.1:c.1800A=	XP_011520183.1:p.Arg600=
XM_011521881.2:c.1800A=	XP_011520183.1:p.Arg600=
NM_000057.4:c.3114A= MANE Select	NP_000048.1:p.Arg1038=
NM_001287246.2:c.3114A=	NP_001274175.1:p.Arg1038=
NM_001287247.2:c.3114A=	NP_001274176.1:p.Arg1038=
NM_001287248.2:c.1989A=	NP_001274177.1:p.Arg663=