Canonical Allele Identifier: CA492158564

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90763129T>G , CM000677.2:g.90763129T>G	GRCh38
NC_000015.9:g.91306359T>G , CM000677.1:g.91306359T>G	GRCh37
NC_000015.8:g.89107363T>G	NCBI36
NG_007272.1:g.50758T>G , LRG_20:g.50758T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.2046T>G MANE Select	NP_000048.1:p.Gly682=
ENST00000355112.8:c.2046T>G MANE Select	ENSP00000347232.3:p.Gly682=
NM_000057.3:c.2046T>G	NP_000048.1:p.Gly682=
NM_001287246.1:c.2046T>G	NP_001274175.1:p.Gly682=
NM_001287246.2:c.2046T>G	NP_001274175.1:p.Gly682=
NM_001287247.1:c.2046T>G	NP_001274176.1:p.Gly682=
NM_001287247.2:c.2046T>G	NP_001274176.1:p.Gly682=
NM_001287248.1:c.921T>G	NP_001274177.1:p.Gly307=
NM_001287248.2:c.921T>G	NP_001274177.1:p.Gly307=
ENST00000355112.7:c.2046T>G	ENSP00000347232.3:p.Gly682=
ENST00000559426.5:n.223T>G
ENST00000559724.5:c.*970T>G	ENSP00000453359.1:n.*970T>G
ENST00000560136.5:n.191T>G
ENST00000560509.5:c.2046T>G	ENSP00000454158.1:p.Gly682=
ENST00000648453.1:c.2046T>G	ENSP00000497646.1:p.Gly682=
ENST00000680772.1:c.2046T>G	ENSP00000506117.1:p.Gly682=
ENST00000681142.1:c.2046T>G	ENSP00000506682.1:p.Gly682=
XM_006720632.2:c.84T>G	XP_006720695.1:p.Gly28=
XM_011521881.1:c.732T>G	XP_011520183.1:p.Gly244=
XM_011521881.2:c.732T>G	XP_011520183.1:p.Gly244=
XM_011521882.1:c.2046T>G	XP_011520184.1:p.Gly682=
XM_011521882.3:c.2046T>G	XP_011520184.1:p.Gly682=