Canonical Allele Identifier: CA7739215

Gene: BLM

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90815245G>A , CM000677.2:g.90815245G>A	GRCh38
NC_000015.9:g.91358475G>A , CM000677.1:g.91358475G>A	GRCh37
NC_000015.8:g.89159479G>A	NCBI36
NG_007272.1:g.102874G>A , LRG_20:g.102874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4220G>A MANE Select	ENSP00000347232.3:p.Arg1407Lys
ENST00000560559.2:n.2793G>A
ENST00000648453.1:c.*182G>A	ENSP00000497646.1:n.*182G>A
ENST00000680772.1:c.4220G>A	ENSP00000506117.1:p.Arg1407Lys
ENST00000355112.7:c.4220G>A	ENSP00000347232.3:p.Arg1407Lys
ENST00000558825.5:n.1567G>A
ENST00000559724.5:c.*3144G>A	ENSP00000453359.1:n.*3144G>A
ENST00000560509.5:c.3827G>A	ENSP00000454158.1:p.Arg1276Lys
ENST00000560821.1:n.640G>A
NM_000057.3:c.4220G>A	NP_000048.1:p.Arg1407Lys
NM_001287246.1:c.4220G>A	NP_001274175.1:p.Arg1407Lys
NM_001287247.1:c.3827G>A	NP_001274176.1:p.Arg1276Lys
NM_001287248.1:c.3095G>A	NP_001274177.1:p.Arg1032Lys
XM_006720632.2:c.2258G>A	XP_006720695.1:p.Arg753Lys
XM_011521881.1:c.2906G>A	XP_011520183.1:p.Arg969Lys
XM_011521881.2:c.2906G>A	XP_011520183.1:p.Arg969Lys
NM_000057.4:c.4220G>A MANE Select	NP_000048.1:p.Arg1407Lys
NM_001287246.2:c.4220G>A	NP_001274175.1:p.Arg1407Lys
NM_001287247.2:c.3827G>A	NP_001274176.1:p.Arg1276Lys
NM_001287248.2:c.3095G>A	NP_001274177.1:p.Arg1032Lys