Canonical Allele Identifier: CA2195293651

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804309G= , CM000677.2:g.90804309G=	GRCh38
NC_000015.9:g.91347539G= , CM000677.1:g.91347539G=	GRCh37
NC_000015.8:g.89148543G=	NCBI36
NG_007272.1:g.91938G= , LRG_20:g.91938G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3701G= MANE Select	ENSP00000347232.3:p.Gly1234=
ENST00000560559.2:n.2274G=
ENST00000648453.1:c.3701G=	ENSP00000497646.1:p.Gly1234=
ENST00000680772.1:c.3701G=	ENSP00000506117.1:p.Gly1234=
ENST00000681142.1:c.3701G=	ENSP00000506682.1:p.Gly1234=
ENST00000355112.7:c.3701G=	ENSP00000347232.3:p.Gly1234=
ENST00000558825.5:n.1048G=
ENST00000559724.5:c.*2625G=	ENSP00000453359.1:n.*2625G=
ENST00000560136.5:n.1727G=
ENST00000560509.5:c.3359-4828G=	ENSP00000454158.1:n.3359-4828G=
NM_000057.3:c.3701G=	NP_000048.1:p.Gly1234=
NM_001287246.1:c.3701G=	NP_001274175.1:p.Gly1234=
NM_001287247.1:c.3359-4828G=	NP_001274176.1:n.3359-4828G=
NM_001287248.1:c.2576G=	NP_001274177.1:p.Gly859=
XM_006720632.2:c.1739G=	XP_006720695.1:p.Gly580=
XM_011521881.1:c.2387G=	XP_011520183.1:p.Gly796=
XM_011521881.2:c.2387G=	XP_011520183.1:p.Gly796=
NM_000057.4:c.3701G= MANE Select	NP_000048.1:p.Gly1234=
NM_001287246.2:c.3701G=	NP_001274175.1:p.Gly1234=
NM_001287247.2:c.3359-4828G=	NP_001274176.1:n.3359-4828G=
NM_001287248.2:c.2576G=	NP_001274177.1:p.Gly859=