Canonical Allele Identifier: CA393842108

Gene: BLM

Linked Data

• ClinVar Variation Id: 644910
• ClinVar RCV Id: RCV000798903
• dbSNP Id: rs1596223836
• MyVariant Identifiers: chr15:g.91298099G>A (hg19) ; chr15:g.90754869G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754869G>A , CM000677.2:g.90754869G>A	GRCh38
NC_000015.9:g.91298099G>A , CM000677.1:g.91298099G>A	GRCh37
NC_000015.8:g.89099103G>A	NCBI36
NG_007272.1:g.42498G>A , LRG_20:g.42498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.1018G>A MANE Select	ENSP00000347232.3:p.Asp340Asn
ENST00000648453.1:c.1018G>A	ENSP00000497646.1:p.Asp340Asn
ENST00000680772.1:c.1018G>A	ENSP00000506117.1:p.Asp340Asn
ENST00000681142.1:c.1018G>A	ENSP00000506682.1:p.Asp340Asn
ENST00000355112.7:c.1018G>A	ENSP00000347232.3:p.Asp340Asn
ENST00000558599.1:n.279G>A
ENST00000559724.5:c.1018G>A	ENSP00000453359.1:p.Asp340Asn
ENST00000560509.5:c.1018G>A	ENSP00000454158.1:p.Asp340Asn
NM_000057.3:c.1018G>A	NP_000048.1:p.Asp340Asn
NM_001287246.1:c.1018G>A	NP_001274175.1:p.Asp340Asn
NM_001287247.1:c.1018G>A	NP_001274176.1:p.Asp340Asn
NM_001287248.1:c.-274G>A	NP_001274177.1:n.-274G>A
XM_011521881.1:c.-164G>A	XP_011520183.1:n.-164G>A
XM_011521882.1:c.1018G>A	XP_011520184.1:p.Asp340Asn
XM_011521881.2:c.-164G>A	XP_011520183.1:n.-164G>A
XM_011521882.3:c.1018G>A	XP_011520184.1:p.Asp340Asn
NM_000057.4:c.1018G>A MANE Select	NP_000048.1:p.Asp340Asn
NM_001287246.2:c.1018G>A	NP_001274175.1:p.Asp340Asn
NM_001287247.2:c.1018G>A	NP_001274176.1:p.Asp340Asn
NM_001287248.2:c.-274G>A	NP_001274177.1:n.-274G>A