Canonical Allele Identifier: CA393842054

Gene: BLM

Linked Data

• ClinVar Variation Id: 823581
• ClinVar RCV Id: RCV001019943 ; RCV002550854
• dbSNP Id: rs1596223780
• MyVariant Identifiers: chr15:g.91298075G>C (hg19) ; chr15:g.90754845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754845G>C , CM000677.2:g.90754845G>C	GRCh38
NC_000015.9:g.91298075G>C , CM000677.1:g.91298075G>C	GRCh37
NC_000015.8:g.89099079G>C	NCBI36
NG_007272.1:g.42474G>C , LRG_20:g.42474G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.994G>C MANE Select	ENSP00000347232.3:p.Glu332Gln
ENST00000648453.1:c.994G>C	ENSP00000497646.1:p.Glu332Gln
ENST00000680772.1:c.994G>C	ENSP00000506117.1:p.Glu332Gln
ENST00000681142.1:c.994G>C	ENSP00000506682.1:p.Glu332Gln
ENST00000355112.7:c.994G>C	ENSP00000347232.3:p.Glu332Gln
ENST00000558599.1:n.255G>C
ENST00000559724.5:c.994G>C	ENSP00000453359.1:p.Glu332Gln
ENST00000560509.5:c.994G>C	ENSP00000454158.1:p.Glu332Gln
NM_000057.3:c.994G>C	NP_000048.1:p.Glu332Gln
NM_001287246.1:c.994G>C	NP_001274175.1:p.Glu332Gln
NM_001287247.1:c.994G>C	NP_001274176.1:p.Glu332Gln
NM_001287248.1:c.-298G>C	NP_001274177.1:n.-298G>C
XM_011521881.1:c.-188G>C	XP_011520183.1:n.-188G>C
XM_011521882.1:c.994G>C	XP_011520184.1:p.Glu332Gln
XM_011521881.2:c.-188G>C	XP_011520183.1:n.-188G>C
XM_011521882.3:c.994G>C	XP_011520184.1:p.Glu332Gln
NM_000057.4:c.994G>C MANE Select	NP_000048.1:p.Glu332Gln
NM_001287246.2:c.994G>C	NP_001274175.1:p.Glu332Gln
NM_001287247.2:c.994G>C	NP_001274176.1:p.Glu332Gln
NM_001287248.2:c.-298G>C	NP_001274177.1:n.-298G>C