Canonical Allele Identifier: CA2195297323

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794268C= , CM000677.2:g.90794268C=	GRCh38
NC_000015.9:g.91337498C= , CM000677.1:g.91337498C=	GRCh37
NC_000015.8:g.89138502C=	NCBI36
NG_007272.1:g.81897C= , LRG_20:g.81897C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3121C= MANE Select	ENSP00000347232.3:p.Leu1041=
ENST00000560559.2:n.1694C=
ENST00000648453.1:c.3121C=	ENSP00000497646.1:p.Leu1041=
ENST00000680772.1:c.3121C=	ENSP00000506117.1:p.Leu1041=
ENST00000681142.1:c.3121C=	ENSP00000506682.1:p.Leu1041=
ENST00000355112.7:c.3121C=	ENSP00000347232.3:p.Leu1041=
ENST00000558825.5:n.468C=
ENST00000559724.5:c.*2045C=	ENSP00000453359.1:n.*2045C=
ENST00000560136.5:n.1147C=
ENST00000560509.5:c.3121C=	ENSP00000454158.1:p.Leu1041=
ENST00000560559.1:n.658C=
NM_000057.3:c.3121C=	NP_000048.1:p.Leu1041=
NM_001287246.1:c.3121C=	NP_001274175.1:p.Leu1041=
NM_001287247.1:c.3121C=	NP_001274176.1:p.Leu1041=
NM_001287248.1:c.1996C=	NP_001274177.1:p.Leu666=
XM_006720632.2:c.1159C=	XP_006720695.1:p.Leu387=
XM_011521881.1:c.1807C=	XP_011520183.1:p.Leu603=
XM_011521881.2:c.1807C=	XP_011520183.1:p.Leu603=
NM_000057.4:c.3121C= MANE Select	NP_000048.1:p.Leu1041=
NM_001287246.2:c.3121C=	NP_001274175.1:p.Leu1041=
NM_001287247.2:c.3121C=	NP_001274176.1:p.Leu1041=
NM_001287248.2:c.1996C=	NP_001274177.1:p.Leu666=