Canonical Allele Identifier: CA393850436

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811222G>C , CM000677.2:g.90811222G>C	GRCh38
NC_000015.9:g.91354452G>C , CM000677.1:g.91354452G>C	GRCh37
NC_000015.8:g.89155456G>C	NCBI36
NG_007272.1:g.98851G>C , LRG_20:g.98851G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3892G>C MANE Select	NP_000048.1:p.Gly1298Arg
ENST00000355112.8:c.3892G>C MANE Select	ENSP00000347232.3:p.Gly1298Arg
NM_000057.3:c.3892G>C	NP_000048.1:p.Gly1298Arg
NM_001287246.1:c.3892G>C	NP_001274175.1:p.Gly1298Arg
NM_001287246.2:c.3892G>C	NP_001274175.1:p.Gly1298Arg
NM_001287247.1:c.3499G>C	NP_001274176.1:p.Gly1167Arg
NM_001287247.2:c.3499G>C	NP_001274176.1:p.Gly1167Arg
NM_001287248.1:c.2767G>C	NP_001274177.1:p.Gly923Arg
NM_001287248.2:c.2767G>C	NP_001274177.1:p.Gly923Arg
ENST00000355112.7:c.3892G>C	ENSP00000347232.3:p.Gly1298Arg
ENST00000558825.5:n.1239G>C
ENST00000559724.5:c.*2816G>C	ENSP00000453359.1:n.*2816G>C
ENST00000560136.5:n.1918G>C
ENST00000560509.5:c.3499G>C	ENSP00000454158.1:p.Gly1167Arg
ENST00000560559.2:n.2465G>C
ENST00000560821.1:n.312G>C
ENST00000648453.1:c.3892G>C	ENSP00000497646.1:p.Gly1298Arg
ENST00000680772.1:c.3892G>C	ENSP00000506117.1:p.Gly1298Arg
ENST00000681142.1:c.3892G>C	ENSP00000506682.1:p.Gly1298Arg
XM_006720632.2:c.1930G>C	XP_006720695.1:p.Gly644Arg
XM_011521881.1:c.2578G>C	XP_011520183.1:p.Gly860Arg
XM_011521881.2:c.2578G>C	XP_011520183.1:p.Gly860Arg