Canonical Allele Identifier: CA2195302369

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811297T= , CM000677.2:g.90811297T=	GRCh38
NC_000015.9:g.91354527T= , CM000677.1:g.91354527T=	GRCh37
NC_000015.8:g.89155531T=	NCBI36
NG_007272.1:g.98926T= , LRG_20:g.98926T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3967T= MANE Select	ENSP00000347232.3:p.Ser1323=
ENST00000560559.2:n.2540T=
ENST00000648453.1:c.3967T=	ENSP00000497646.1:p.Ser1323=
ENST00000680772.1:c.3967T=	ENSP00000506117.1:p.Ser1323=
ENST00000681142.1:c.3967T=	ENSP00000506682.1:p.Ser1323=
ENST00000355112.7:c.3967T=	ENSP00000347232.3:p.Ser1323=
ENST00000558825.5:n.1314T=
ENST00000559724.5:c.*2891T=	ENSP00000453359.1:n.*2891T=
ENST00000560136.5:n.1993T=
ENST00000560509.5:c.3574T=	ENSP00000454158.1:p.Ser1192=
ENST00000560821.1:n.387T=
NM_000057.3:c.3967T=	NP_000048.1:p.Ser1323=
NM_001287246.1:c.3967T=	NP_001274175.1:p.Ser1323=
NM_001287247.1:c.3574T=	NP_001274176.1:p.Ser1192=
NM_001287248.1:c.2842T=	NP_001274177.1:p.Ser948=
XM_006720632.2:c.2005T=	XP_006720695.1:p.Ser669=
XM_011521881.1:c.2653T=	XP_011520183.1:p.Ser885=
XM_011521881.2:c.2653T=	XP_011520183.1:p.Ser885=
NM_000057.4:c.3967T= MANE Select	NP_000048.1:p.Ser1323=
NM_001287246.2:c.3967T=	NP_001274175.1:p.Ser1323=
NM_001287247.2:c.3574T=	NP_001274176.1:p.Ser1192=
NM_001287248.2:c.2842T=	NP_001274177.1:p.Ser948=