Canonical Allele Identifier: CA2195292924

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803563G= , CM000677.2:g.90803563G=	GRCh38
NC_000015.9:g.91346793G= , CM000677.1:g.91346793G=	GRCh37
NC_000015.8:g.89147797G=	NCBI36
NG_007272.1:g.91192G= , LRG_20:g.91192G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3401G= MANE Select	ENSP00000347232.3:p.Gly1134=
ENST00000560559.2:n.1974G=
ENST00000648453.1:c.3401G=	ENSP00000497646.1:p.Gly1134=
ENST00000680772.1:c.3401G=	ENSP00000506117.1:p.Gly1134=
ENST00000681142.1:c.3401G=	ENSP00000506682.1:p.Gly1134=
ENST00000355112.7:c.3401G=	ENSP00000347232.3:p.Gly1134=
ENST00000558825.5:n.748G=
ENST00000559724.5:c.*2325G=	ENSP00000453359.1:n.*2325G=
ENST00000560136.5:n.1427G=
ENST00000560509.5:c.3358+5226G=	ENSP00000454158.1:n.3358+5226G=
NM_000057.3:c.3401G=	NP_000048.1:p.Gly1134=
NM_001287246.1:c.3401G=	NP_001274175.1:p.Gly1134=
NM_001287247.1:c.3358+5226G=	NP_001274176.1:n.3358+5226G=
NM_001287248.1:c.2276G=	NP_001274177.1:p.Gly759=
XM_006720632.2:c.1439G=	XP_006720695.1:p.Gly480=
XM_011521881.1:c.2087G=	XP_011520183.1:p.Gly696=
XM_011521881.2:c.2087G=	XP_011520183.1:p.Gly696=
NM_000057.4:c.3401G= MANE Select	NP_000048.1:p.Gly1134=
NM_001287246.2:c.3401G=	NP_001274175.1:p.Gly1134=
NM_001287247.2:c.3358+5226G=	NP_001274176.1:n.3358+5226G=
NM_001287248.2:c.2276G=	NP_001274177.1:p.Gly759=