Canonical Allele Identifier: CA393847530

Gene: BLM

Linked Data

• ClinVar Variation Id: 1731132
• ClinVar RCV Id: RCV002452133
• dbSNP Id: rs1897213953
• gnomAD v4: 15-90803569-C-T
• MyVariant Identifiers: chr15:g.91346799C>T (hg19) ; chr15:g.90803569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803569C>T , CM000677.2:g.90803569C>T	GRCh38
NC_000015.9:g.91346799C>T , CM000677.1:g.91346799C>T	GRCh37
NC_000015.8:g.89147803C>T	NCBI36
NG_007272.1:g.91198C>T , LRG_20:g.91198C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3407C>T MANE Select	ENSP00000347232.3:p.Ala1136Val
ENST00000560559.2:n.1980C>T
ENST00000648453.1:c.3407C>T	ENSP00000497646.1:p.Ala1136Val
ENST00000680772.1:c.3407C>T	ENSP00000506117.1:p.Ala1136Val
ENST00000681142.1:c.3407C>T	ENSP00000506682.1:p.Ala1136Val
ENST00000355112.7:c.3407C>T	ENSP00000347232.3:p.Ala1136Val
ENST00000558825.5:n.754C>T
ENST00000559724.5:c.*2331C>T	ENSP00000453359.1:n.*2331C>T
ENST00000560136.5:n.1433C>T
ENST00000560509.5:c.3358+5232C>T	ENSP00000454158.1:n.3358+5232C>T
NM_000057.3:c.3407C>T	NP_000048.1:p.Ala1136Val
NM_001287246.1:c.3407C>T	NP_001274175.1:p.Ala1136Val
NM_001287247.1:c.3358+5232C>T	NP_001274176.1:n.3358+5232C>T
NM_001287248.1:c.2282C>T	NP_001274177.1:p.Ala761Val
XM_006720632.2:c.1445C>T	XP_006720695.1:p.Ala482Val
XM_011521881.1:c.2093C>T	XP_011520183.1:p.Ala698Val
XM_011521881.2:c.2093C>T	XP_011520183.1:p.Ala698Val
NM_000057.4:c.3407C>T MANE Select	NP_000048.1:p.Ala1136Val
NM_001287246.2:c.3407C>T	NP_001274175.1:p.Ala1136Val
NM_001287247.2:c.3358+5232C>T	NP_001274176.1:n.3358+5232C>T
NM_001287248.2:c.2282C>T	NP_001274177.1:p.Ala761Val