Canonical Allele Identifier: CA3212189469

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90769519A= , CM000677.2:g.90769519A=	GRCh38
NC_000015.9:g.91312749A= , CM000677.1:g.91312749A=	GRCh37
NC_000015.8:g.89113753A=	NCBI36
NG_007272.1:g.57148A= , LRG_20:g.57148A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.2488A= MANE Select	NP_000048.1:p.Thr830=
ENST00000355112.8:c.2488A= MANE Select	ENSP00000347232.3:p.Thr830=
NM_000057.3:c.2488A=	NP_000048.1:p.Thr830=
NM_001287246.1:c.2488A=	NP_001274175.1:p.Thr830=
NM_001287246.2:c.2488A=	NP_001274175.1:p.Thr830=
NM_001287247.1:c.2488A=	NP_001274176.1:p.Thr830=
NM_001287247.2:c.2488A=	NP_001274176.1:p.Thr830=
NM_001287248.1:c.1363A=	NP_001274177.1:p.Thr455=
NM_001287248.2:c.1363A=	NP_001274177.1:p.Thr455=
ENST00000355112.7:c.2488A=	ENSP00000347232.3:p.Thr830=
ENST00000559724.5:c.*1412A=	ENSP00000453359.1:n.*1412A=
ENST00000560136.5:n.514A=
ENST00000560509.5:c.2488A=	ENSP00000454158.1:p.Thr830=
ENST00000648453.1:c.2488A=	ENSP00000497646.1:p.Thr830=
ENST00000680772.1:c.2488A=	ENSP00000506117.1:p.Thr830=
ENST00000681142.1:c.2488A=	ENSP00000506682.1:p.Thr830=
XM_006720632.2:c.526A=	XP_006720695.1:p.Thr176=
XM_011521881.1:c.1174A=	XP_011520183.1:p.Thr392=
XM_011521881.2:c.1174A=	XP_011520183.1:p.Thr392=
XM_011521882.1:c.2488A=	XP_011520184.1:p.Thr830=
XM_011521882.3:c.2488A=	XP_011520184.1:p.Thr830=