Canonical Allele Identifier: CA393843660

Gene: BLM

Linked Data

• ClinVar Variation Id: 941973
• ClinVar RCV Id: RCV001211858
• dbSNP Id: rs1360373872
• gnomAD v2: 15-91304305-G-C
• gnomAD v3: 15-90761075-G-C
• gnomAD v4: 15-90761075-G-C
• MyVariant Identifiers: chr15:g.91304305G>C (hg19) ; chr15:g.90761075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90761075G>C , CM000677.2:g.90761075G>C	GRCh38
NC_000015.9:g.91304305G>C , CM000677.1:g.91304305G>C	GRCh37
NC_000015.8:g.89105309G>C	NCBI36
NG_007272.1:g.48704G>C , LRG_20:g.48704G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.1702G>C MANE Select	ENSP00000347232.3:p.Glu568Gln
ENST00000648453.1:c.1702G>C	ENSP00000497646.1:p.Glu568Gln
ENST00000680772.1:c.1702G>C	ENSP00000506117.1:p.Glu568Gln
ENST00000681142.1:c.1702G>C	ENSP00000506682.1:p.Glu568Gln
ENST00000355112.7:c.1702G>C	ENSP00000347232.3:p.Glu568Gln
ENST00000559724.5:c.*626G>C	ENSP00000453359.1:n.*626G>C
ENST00000560509.5:c.1702G>C	ENSP00000454158.1:p.Glu568Gln
NM_000057.3:c.1702G>C	NP_000048.1:p.Glu568Gln
NM_001287246.1:c.1702G>C	NP_001274175.1:p.Glu568Gln
NM_001287247.1:c.1702G>C	NP_001274176.1:p.Glu568Gln
NM_001287248.1:c.577G>C	NP_001274177.1:p.Glu193Gln
XM_011521881.1:c.388G>C	XP_011520183.1:p.Glu130Gln
XM_011521882.1:c.1702G>C	XP_011520184.1:p.Glu568Gln
XM_011521881.2:c.388G>C	XP_011520183.1:p.Glu130Gln
XM_011521882.3:c.1702G>C	XP_011520184.1:p.Glu568Gln
NM_000057.4:c.1702G>C MANE Select	NP_000048.1:p.Glu568Gln
NM_001287246.2:c.1702G>C	NP_001274175.1:p.Glu568Gln
NM_001287247.2:c.1702G>C	NP_001274176.1:p.Glu568Gln
NM_001287248.2:c.577G>C	NP_001274177.1:p.Glu193Gln