Canonical Allele Identifier: CA2195302334

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811233G= , CM000677.2:g.90811233G=	GRCh38
NC_000015.9:g.91354463G= , CM000677.1:g.91354463G=	GRCh37
NC_000015.8:g.89155467G=	NCBI36
NG_007272.1:g.98862G= , LRG_20:g.98862G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3903G= MANE Select	ENSP00000347232.3:p.Leu1301=
ENST00000560559.2:n.2476G=
ENST00000648453.1:c.3903G=	ENSP00000497646.1:p.Leu1301=
ENST00000680772.1:c.3903G=	ENSP00000506117.1:p.Leu1301=
ENST00000681142.1:c.3903G=	ENSP00000506682.1:p.Leu1301=
ENST00000355112.7:c.3903G=	ENSP00000347232.3:p.Leu1301=
ENST00000558825.5:n.1250G=
ENST00000559724.5:c.*2827G=	ENSP00000453359.1:n.*2827G=
ENST00000560136.5:n.1929G=
ENST00000560509.5:c.3510G=	ENSP00000454158.1:p.Leu1170=
ENST00000560821.1:n.323G=
NM_000057.3:c.3903G=	NP_000048.1:p.Leu1301=
NM_001287246.1:c.3903G=	NP_001274175.1:p.Leu1301=
NM_001287247.1:c.3510G=	NP_001274176.1:p.Leu1170=
NM_001287248.1:c.2778G=	NP_001274177.1:p.Leu926=
XM_006720632.2:c.1941G=	XP_006720695.1:p.Leu647=
XM_011521881.1:c.2589G=	XP_011520183.1:p.Leu863=
XM_011521881.2:c.2589G=	XP_011520183.1:p.Leu863=
NM_000057.4:c.3903G= MANE Select	NP_000048.1:p.Leu1301=
NM_001287246.2:c.3903G=	NP_001274175.1:p.Leu1301=
NM_001287247.2:c.3510G=	NP_001274176.1:p.Leu1170=
NM_001287248.2:c.2778G=	NP_001274177.1:p.Leu926=