Canonical Allele Identifier: CA3212189466

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804195G= , CM000677.2:g.90804195G=	GRCh38
NC_000015.9:g.91347425G= , CM000677.1:g.91347425G=	GRCh37
NC_000015.8:g.89148429G=	NCBI36
NG_007272.1:g.91824G= , LRG_20:g.91824G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3587G= MANE Select	NP_000048.1:p.Ser1196=
ENST00000355112.8:c.3587G= MANE Select	ENSP00000347232.3:p.Ser1196=
NM_000057.3:c.3587G=	NP_000048.1:p.Ser1196=
NM_001287246.1:c.3587G=	NP_001274175.1:p.Ser1196=
NM_001287246.2:c.3587G=	NP_001274175.1:p.Ser1196=
NM_001287247.1:c.3359-4942G=	NP_001274176.1:n.3359-4942G=
NM_001287247.2:c.3359-4942G=	NP_001274176.1:n.3359-4942G=
NM_001287248.1:c.2462G=	NP_001274177.1:p.Ser821=
NM_001287248.2:c.2462G=	NP_001274177.1:p.Ser821=
ENST00000355112.7:c.3587G=	ENSP00000347232.3:p.Ser1196=
ENST00000558825.5:n.934G=
ENST00000559724.5:c.*2511G=	ENSP00000453359.1:n.*2511G=
ENST00000560136.5:n.1613G=
ENST00000560509.5:c.3359-4942G=	ENSP00000454158.1:n.3359-4942G=
ENST00000560559.2:n.2160G=
ENST00000648453.1:c.3587G=	ENSP00000497646.1:p.Ser1196=
ENST00000680772.1:c.3587G=	ENSP00000506117.1:p.Ser1196=
ENST00000681142.1:c.3587G=	ENSP00000506682.1:p.Ser1196=
XM_006720632.2:c.1625G=	XP_006720695.1:p.Ser542=
XM_011521881.1:c.2273G=	XP_011520183.1:p.Ser758=
XM_011521881.2:c.2273G=	XP_011520183.1:p.Ser758=