Canonical Allele Identifier: CA393851257

Gene: BLM

Linked Data

• ClinVar Variation Id: 2012679
• ClinVar RCV Id: RCV002843292
• dbSNP Id: rs2151199915
• gnomAD v4: 15-90811344-G-C
• MyVariant Identifiers: chr15:g.91354574G>C (hg19) ; chr15:g.90811344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811344G>C , CM000677.2:g.90811344G>C	GRCh38
NC_000015.9:g.91354574G>C , CM000677.1:g.91354574G>C	GRCh37
NC_000015.8:g.89155578G>C	NCBI36
NG_007272.1:g.98973G>C , LRG_20:g.98973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4014G>C MANE Select	ENSP00000347232.3:p.Lys1338Asn
ENST00000560559.2:n.2587G>C
ENST00000648453.1:c.4014G>C	ENSP00000497646.1:p.Lys1338Asn
ENST00000680772.1:c.4014G>C	ENSP00000506117.1:p.Lys1338Asn
ENST00000681142.1:c.4014G>C	ENSP00000506682.1:p.Lys1338Asn
ENST00000355112.7:c.4014G>C	ENSP00000347232.3:p.Lys1338Asn
ENST00000558825.5:n.1361G>C
ENST00000559724.5:c.*2938G>C	ENSP00000453359.1:n.*2938G>C
ENST00000560509.5:c.3621G>C	ENSP00000454158.1:p.Lys1207Asn
ENST00000560821.1:n.434G>C
NM_000057.3:c.4014G>C	NP_000048.1:p.Lys1338Asn
NM_001287246.1:c.4014G>C	NP_001274175.1:p.Lys1338Asn
NM_001287247.1:c.3621G>C	NP_001274176.1:p.Lys1207Asn
NM_001287248.1:c.2889G>C	NP_001274177.1:p.Lys963Asn
XM_006720632.2:c.2052G>C	XP_006720695.1:p.Lys684Asn
XM_011521881.1:c.2700G>C	XP_011520183.1:p.Lys900Asn
XM_011521881.2:c.2700G>C	XP_011520183.1:p.Lys900Asn
NM_000057.4:c.4014G>C MANE Select	NP_000048.1:p.Lys1338Asn
NM_001287246.2:c.4014G>C	NP_001274175.1:p.Lys1338Asn
NM_001287247.2:c.3621G>C	NP_001274176.1:p.Lys1207Asn
NM_001287248.2:c.2889G>C	NP_001274177.1:p.Lys963Asn