Canonical Allele Identifier: CA2195295799

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790782T= , CM000677.2:g.90790782T=	GRCh38
NC_000015.9:g.91334012T= , CM000677.1:g.91334012T=	GRCh37
NC_000015.8:g.89135016T=	NCBI36
NG_007272.1:g.78411T= , LRG_20:g.78411T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2957T= MANE Select	ENSP00000347232.3:p.Ile986=
ENST00000560559.2:n.1530T=
ENST00000648453.1:c.2957T=	ENSP00000497646.1:p.Ile986=
ENST00000680772.1:c.2957T=	ENSP00000506117.1:p.Ile986=
ENST00000681142.1:c.2957T=	ENSP00000506682.1:p.Ile986=
ENST00000355112.7:c.2957T=	ENSP00000347232.3:p.Ile986=
ENST00000559724.5:c.*1881T=	ENSP00000453359.1:n.*1881T=
ENST00000560136.5:n.983T=
ENST00000560509.5:c.2957T=	ENSP00000454158.1:p.Ile986=
ENST00000560559.1:n.494T=
NM_000057.3:c.2957T=	NP_000048.1:p.Ile986=
NM_001287246.1:c.2957T=	NP_001274175.1:p.Ile986=
NM_001287247.1:c.2957T=	NP_001274176.1:p.Ile986=
NM_001287248.1:c.1832T=	NP_001274177.1:p.Ile611=
XM_006720632.2:c.995T=	XP_006720695.1:p.Ile332=
XM_011521881.1:c.1643T=	XP_011520183.1:p.Ile548=
XM_011521881.2:c.1643T=	XP_011520183.1:p.Ile548=
NM_000057.4:c.2957T= MANE Select	NP_000048.1:p.Ile986=
NM_001287246.2:c.2957T=	NP_001274175.1:p.Ile986=
NM_001287247.2:c.2957T=	NP_001274176.1:p.Ile986=
NM_001287248.2:c.1832T=	NP_001274177.1:p.Ile611=