Canonical Allele Identifier: CA393847814

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803697A>G , CM000677.2:g.90803697A>G	GRCh38
NC_000015.9:g.91346927A>G , CM000677.1:g.91346927A>G	GRCh37
NC_000015.8:g.89147931A>G	NCBI36
NG_007272.1:g.91326A>G , LRG_20:g.91326A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3535A>G MANE Select	NP_000048.1:p.Thr1179Ala
ENST00000355112.8:c.3535A>G MANE Select	ENSP00000347232.3:p.Thr1179Ala
NM_000057.3:c.3535A>G	NP_000048.1:p.Thr1179Ala
NM_001287246.1:c.3535A>G	NP_001274175.1:p.Thr1179Ala
NM_001287246.2:c.3535A>G	NP_001274175.1:p.Thr1179Ala
NM_001287247.1:c.3358+5360A>G	NP_001274176.1:n.3358+5360A>G
NM_001287247.2:c.3358+5360A>G	NP_001274176.1:n.3358+5360A>G
NM_001287248.1:c.2410A>G	NP_001274177.1:p.Thr804Ala
NM_001287248.2:c.2410A>G	NP_001274177.1:p.Thr804Ala
ENST00000355112.7:c.3535A>G	ENSP00000347232.3:p.Thr1179Ala
ENST00000558825.5:n.882A>G
ENST00000559724.5:c.*2459A>G	ENSP00000453359.1:n.*2459A>G
ENST00000560136.5:n.1561A>G
ENST00000560509.5:c.3358+5360A>G	ENSP00000454158.1:n.3358+5360A>G
ENST00000560559.2:n.2108A>G
ENST00000648453.1:c.3535A>G	ENSP00000497646.1:p.Thr1179Ala
ENST00000680772.1:c.3535A>G	ENSP00000506117.1:p.Thr1179Ala
ENST00000681142.1:c.3535A>G	ENSP00000506682.1:p.Thr1179Ala
XM_006720632.2:c.1573A>G	XP_006720695.1:p.Thr525Ala
XM_011521881.1:c.2221A>G	XP_011520183.1:p.Thr741Ala
XM_011521881.2:c.2221A>G	XP_011520183.1:p.Thr741Ala