Canonical Allele Identifier: CA273735

Gene: BLM

Linked Data

• ClinVar Variation Id: 180588
• ClinVar RCV Id: RCV000157586 ; RCV000561536 ; RCV003221828
• dbSNP Id: rs730880251
• ExAC: 15:91354509 G / A
• gnomAD v2: 15-91354509-G-A
• gnomAD v3: 15-90811279-G-A
• gnomAD v4: 15-90811279-G-A
• MyVariant Identifiers: chr15:g.91354509G>A (hg19) ; chr15:g.90811279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811279G>A , CM000677.2:g.90811279G>A	GRCh38
NC_000015.9:g.91354509G>A , CM000677.1:g.91354509G>A	GRCh37
NC_000015.8:g.89155513G>A	NCBI36
NG_007272.1:g.98908G>A , LRG_20:g.98908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3949G>A MANE Select	ENSP00000347232.3:p.Glu1317Lys
ENST00000560559.2:n.2522G>A
ENST00000648453.1:c.3949G>A	ENSP00000497646.1:p.Glu1317Lys
ENST00000680772.1:c.3949G>A	ENSP00000506117.1:p.Glu1317Lys
ENST00000681142.1:c.3949G>A	ENSP00000506682.1:p.Glu1317Lys
ENST00000355112.7:c.3949G>A	ENSP00000347232.3:p.Glu1317Lys
ENST00000558825.5:n.1296G>A
ENST00000559724.5:c.*2873G>A	ENSP00000453359.1:n.*2873G>A
ENST00000560136.5:n.1975G>A
ENST00000560509.5:c.3556G>A	ENSP00000454158.1:p.Glu1186Lys
ENST00000560821.1:n.369G>A
NM_000057.3:c.3949G>A	NP_000048.1:p.Glu1317Lys
NM_001287246.1:c.3949G>A	NP_001274175.1:p.Glu1317Lys
NM_001287247.1:c.3556G>A	NP_001274176.1:p.Glu1186Lys
NM_001287248.1:c.2824G>A	NP_001274177.1:p.Glu942Lys
XM_006720632.2:c.1987G>A	XP_006720695.1:p.Glu663Lys
XM_011521881.1:c.2635G>A	XP_011520183.1:p.Glu879Lys
XM_011521881.2:c.2635G>A	XP_011520183.1:p.Glu879Lys
NM_000057.4:c.3949G>A MANE Select	NP_000048.1:p.Glu1317Lys
NM_001287246.2:c.3949G>A	NP_001274175.1:p.Glu1317Lys
NM_001287247.2:c.3556G>A	NP_001274176.1:p.Glu1186Lys
NM_001287248.2:c.2824G>A	NP_001274177.1:p.Glu942Lys