Canonical Allele Identifier: CA2195277155

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90761015C= , CM000677.2:g.90761015C=	GRCh38
NC_000015.9:g.91304245C= , CM000677.1:g.91304245C=	GRCh37
NC_000015.8:g.89105249C=	NCBI36
NG_007272.1:g.48644C= , LRG_20:g.48644C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.1642C= MANE Select	NP_000048.1:p.Gln548=
ENST00000355112.8:c.1642C= MANE Select	ENSP00000347232.3:p.Gln548=
NM_000057.3:c.1642C=	NP_000048.1:p.Gln548=
NM_001287246.1:c.1642C=	NP_001274175.1:p.Gln548=
NM_001287246.2:c.1642C=	NP_001274175.1:p.Gln548=
NM_001287247.1:c.1642C=	NP_001274176.1:p.Gln548=
NM_001287247.2:c.1642C=	NP_001274176.1:p.Gln548=
NM_001287248.1:c.517C=	NP_001274177.1:p.Gln173=
NM_001287248.2:c.517C=	NP_001274177.1:p.Gln173=
ENST00000355112.7:c.1642C=	ENSP00000347232.3:p.Gln548=
ENST00000559724.5:c.*566C=	ENSP00000453359.1:n.*566C=
ENST00000560509.5:c.1642C=	ENSP00000454158.1:p.Gln548=
ENST00000648453.1:c.1642C=	ENSP00000497646.1:p.Gln548=
ENST00000680772.1:c.1642C=	ENSP00000506117.1:p.Gln548=
ENST00000681142.1:c.1642C=	ENSP00000506682.1:p.Gln548=
XM_011521881.1:c.328C=	XP_011520183.1:p.Gln110=
XM_011521881.2:c.328C=	XP_011520183.1:p.Gln110=
XM_011521882.1:c.1642C=	XP_011520184.1:p.Gln548=
XM_011521882.3:c.1642C=	XP_011520184.1:p.Gln548=