Canonical Allele Identifier: CA2195302393

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811353C= , CM000677.2:g.90811353C=	GRCh38
NC_000015.9:g.91354583C= , CM000677.1:g.91354583C=	GRCh37
NC_000015.8:g.89155587C=	NCBI36
NG_007272.1:g.98982C= , LRG_20:g.98982C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4023C= MANE Select	ENSP00000347232.3:p.Ala1341=
ENST00000560559.2:n.2596C=
ENST00000648453.1:c.4023C=	ENSP00000497646.1:p.Ala1341=
ENST00000680772.1:c.4023C=	ENSP00000506117.1:p.Ala1341=
ENST00000681142.1:c.4023C=	ENSP00000506682.1:p.Ala1341=
ENST00000355112.7:c.4023C=	ENSP00000347232.3:p.Ala1341=
ENST00000558825.5:n.1370C=
ENST00000559724.5:c.*2947C=	ENSP00000453359.1:n.*2947C=
ENST00000560509.5:c.3630C=	ENSP00000454158.1:p.Ala1210=
ENST00000560821.1:n.443C=
NM_000057.3:c.4023C=	NP_000048.1:p.Ala1341=
NM_001287246.1:c.4023C=	NP_001274175.1:p.Ala1341=
NM_001287247.1:c.3630C=	NP_001274176.1:p.Ala1210=
NM_001287248.1:c.2898C=	NP_001274177.1:p.Ala966=
XM_006720632.2:c.2061C=	XP_006720695.1:p.Ala687=
XM_011521881.1:c.2709C=	XP_011520183.1:p.Ala903=
XM_011521881.2:c.2709C=	XP_011520183.1:p.Ala903=
NM_000057.4:c.4023C= MANE Select	NP_000048.1:p.Ala1341=
NM_001287246.2:c.4023C=	NP_001274175.1:p.Ala1341=
NM_001287247.2:c.3630C=	NP_001274176.1:p.Ala1210=
NM_001287248.2:c.2898C=	NP_001274177.1:p.Ala966=