Canonical Allele Identifier: CA2195295823

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790835C= , CM000677.2:g.90790835C=	GRCh38
NC_000015.9:g.91334065C= , CM000677.1:g.91334065C=	GRCh37
NC_000015.8:g.89135069C=	NCBI36
NG_007272.1:g.78464C= , LRG_20:g.78464C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3010C= MANE Select	ENSP00000347232.3:p.Leu1004=
ENST00000560559.2:n.1583C=
ENST00000648453.1:c.3010C=	ENSP00000497646.1:p.Leu1004=
ENST00000680772.1:c.3010C=	ENSP00000506117.1:p.Leu1004=
ENST00000681142.1:c.3010C=	ENSP00000506682.1:p.Leu1004=
ENST00000355112.7:c.3010C=	ENSP00000347232.3:p.Leu1004=
ENST00000559724.5:c.*1934C=	ENSP00000453359.1:n.*1934C=
ENST00000560136.5:n.1036C=
ENST00000560509.5:c.3010C=	ENSP00000454158.1:p.Leu1004=
ENST00000560559.1:n.547C=
NM_000057.3:c.3010C=	NP_000048.1:p.Leu1004=
NM_001287246.1:c.3010C=	NP_001274175.1:p.Leu1004=
NM_001287247.1:c.3010C=	NP_001274176.1:p.Leu1004=
NM_001287248.1:c.1885C=	NP_001274177.1:p.Leu629=
XM_006720632.2:c.1048C=	XP_006720695.1:p.Leu350=
XM_011521881.1:c.1696C=	XP_011520183.1:p.Leu566=
XM_011521881.2:c.1696C=	XP_011520183.1:p.Leu566=
NM_000057.4:c.3010C= MANE Select	NP_000048.1:p.Leu1004=
NM_001287246.2:c.3010C=	NP_001274175.1:p.Leu1004=
NM_001287247.2:c.3010C=	NP_001274176.1:p.Leu1004=
NM_001287248.2:c.1885C=	NP_001274177.1:p.Leu629=