Canonical Allele Identifier: CA393846850

Gene: BLM

Linked Data

• ClinVar Variation Id: 1727700
• ClinVar RCV Id: RCV002326040
• dbSNP Id: rs137853153
• gnomAD v4: 15-90794254-G-A
• MyVariant Identifiers: chr15:g.91337484G>A (hg19) ; chr15:g.90794254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794254G>A , CM000677.2:g.90794254G>A	GRCh38
NC_000015.9:g.91337484G>A , CM000677.1:g.91337484G>A	GRCh37
NC_000015.8:g.89138488G>A	NCBI36
NG_007272.1:g.81883G>A , LRG_20:g.81883G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3107G>A MANE Select	ENSP00000347232.3:p.Cys1036Tyr
ENST00000560559.2:n.1680G>A
ENST00000648453.1:c.3107G>A	ENSP00000497646.1:p.Cys1036Tyr
ENST00000680772.1:c.3107G>A	ENSP00000506117.1:p.Cys1036Tyr
ENST00000681142.1:c.3107G>A	ENSP00000506682.1:p.Cys1036Tyr
ENST00000355112.7:c.3107G>A	ENSP00000347232.3:p.Cys1036Tyr
ENST00000558825.5:n.454G>A
ENST00000559724.5:c.*2031G>A	ENSP00000453359.1:n.*2031G>A
ENST00000560136.5:n.1133G>A
ENST00000560509.5:c.3107G>A	ENSP00000454158.1:p.Cys1036Tyr
ENST00000560559.1:n.644G>A
NM_000057.3:c.3107G>A	NP_000048.1:p.Cys1036Tyr
NM_001287246.1:c.3107G>A	NP_001274175.1:p.Cys1036Tyr
NM_001287247.1:c.3107G>A	NP_001274176.1:p.Cys1036Tyr
NM_001287248.1:c.1982G>A	NP_001274177.1:p.Cys661Tyr
XM_006720632.2:c.1145G>A	XP_006720695.1:p.Cys382Tyr
XM_011521881.1:c.1793G>A	XP_011520183.1:p.Cys598Tyr
XM_011521881.2:c.1793G>A	XP_011520183.1:p.Cys598Tyr
NM_000057.4:c.3107G>A MANE Select	NP_000048.1:p.Cys1036Tyr
NM_001287246.2:c.3107G>A	NP_001274175.1:p.Cys1036Tyr
NM_001287247.2:c.3107G>A	NP_001274176.1:p.Cys1036Tyr
NM_001287248.2:c.1982G>A	NP_001274177.1:p.Cys661Tyr