Canonical Allele Identifier: CA393851336

Gene: BLM

Linked Data

• ClinVar Variation Id: 2759672
• ClinVar RCV Id: RCV003504960
• MyVariant Identifiers: chr15:g.91354587C>G (hg19) ; chr15:g.90811357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811357C>G , CM000677.2:g.90811357C>G	GRCh38
NC_000015.9:g.91354587C>G , CM000677.1:g.91354587C>G	GRCh37
NC_000015.8:g.89155591C>G	NCBI36
NG_007272.1:g.98986C>G , LRG_20:g.98986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4027C>G MANE Select	ENSP00000347232.3:p.Gln1343Glu
ENST00000560559.2:n.2600C>G
ENST00000648453.1:c.4027C>G	ENSP00000497646.1:p.Gln1343Glu
ENST00000680772.1:c.4027C>G	ENSP00000506117.1:p.Gln1343Glu
ENST00000681142.1:c.4027C>G	ENSP00000506682.1:p.Gln1343Glu
ENST00000355112.7:c.4027C>G	ENSP00000347232.3:p.Gln1343Glu
ENST00000558825.5:n.1374C>G
ENST00000559724.5:c.*2951C>G	ENSP00000453359.1:n.*2951C>G
ENST00000560509.5:c.3634C>G	ENSP00000454158.1:p.Gln1212Glu
ENST00000560821.1:n.447C>G
NM_000057.3:c.4027C>G	NP_000048.1:p.Gln1343Glu
NM_001287246.1:c.4027C>G	NP_001274175.1:p.Gln1343Glu
NM_001287247.1:c.3634C>G	NP_001274176.1:p.Gln1212Glu
NM_001287248.1:c.2902C>G	NP_001274177.1:p.Gln968Glu
XM_006720632.2:c.2065C>G	XP_006720695.1:p.Gln689Glu
XM_011521881.1:c.2713C>G	XP_011520183.1:p.Gln905Glu
XM_011521881.2:c.2713C>G	XP_011520183.1:p.Gln905Glu
NM_000057.4:c.4027C>G MANE Select	NP_000048.1:p.Gln1343Glu
NM_001287246.2:c.4027C>G	NP_001274175.1:p.Gln1343Glu
NM_001287247.2:c.3634C>G	NP_001274176.1:p.Gln1212Glu
NM_001287248.2:c.2902C>G	NP_001274177.1:p.Gln968Glu