Canonical Allele Identifier: CA393853259

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90815257A>G , CM000677.2:g.90815257A>G	GRCh38
NC_000015.9:g.91358487A>G , CM000677.1:g.91358487A>G	GRCh37
NC_000015.8:g.89159491A>G	NCBI36
NG_007272.1:g.102886A>G , LRG_20:g.102886A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.4232A>G MANE Select	NP_000048.1:p.Lys1411Arg
ENST00000355112.8:c.4232A>G MANE Select	ENSP00000347232.3:p.Lys1411Arg
NM_000057.3:c.4232A>G	NP_000048.1:p.Lys1411Arg
NM_001287246.1:c.4232A>G	NP_001274175.1:p.Lys1411Arg
NM_001287246.2:c.4232A>G	NP_001274175.1:p.Lys1411Arg
NM_001287247.1:c.3839A>G	NP_001274176.1:p.Lys1280Arg
NM_001287247.2:c.3839A>G	NP_001274176.1:p.Lys1280Arg
NM_001287248.1:c.3107A>G	NP_001274177.1:p.Lys1036Arg
NM_001287248.2:c.3107A>G	NP_001274177.1:p.Lys1036Arg
ENST00000355112.7:c.4232A>G	ENSP00000347232.3:p.Lys1411Arg
ENST00000558825.5:n.1579A>G
ENST00000559724.5:c.*3156A>G	ENSP00000453359.1:n.*3156A>G
ENST00000560509.5:c.3839A>G	ENSP00000454158.1:p.Lys1280Arg
ENST00000560559.2:n.2805A>G
ENST00000560821.1:n.652A>G
ENST00000648453.1:c.*194A>G	ENSP00000497646.1:n.*194A>G
ENST00000680772.1:c.4232A>G	ENSP00000506117.1:p.Lys1411Arg
XM_006720632.2:c.2270A>G	XP_006720695.1:p.Lys757Arg
XM_011521881.1:c.2918A>G	XP_011520183.1:p.Lys973Arg
XM_011521881.2:c.2918A>G	XP_011520183.1:p.Lys973Arg