Canonical Allele Identifier: CA492159938

Gene: BLM

Linked Data

• ClinVar Variation Id: 1550790
• ClinVar RCV Id: RCV002191986
• dbSNP Id: rs1567044034
• gnomAD v4: 15-90767005-A-C
• MyVariant Identifiers: chr15:g.91310235A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90767005A>C , CM000677.2:g.90767005A>C	GRCh38
NC_000015.9:g.91310235A>C , CM000677.1:g.91310235A>C	GRCh37
NC_000015.8:g.89111239A>C	NCBI36
NG_007272.1:g.54634A>C , LRG_20:g.54634A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2289A>C MANE Select	ENSP00000347232.3:p.Leu763=
ENST00000648453.1:c.2289A>C	ENSP00000497646.1:p.Leu763=
ENST00000680772.1:c.2289A>C	ENSP00000506117.1:p.Leu763=
ENST00000681142.1:c.2289A>C	ENSP00000506682.1:p.Leu763=
ENST00000355112.7:c.2289A>C	ENSP00000347232.3:p.Leu763=
ENST00000559426.5:n.466A>C
ENST00000559724.5:c.*1213A>C	ENSP00000453359.1:n.*1213A>C
ENST00000560136.5:n.315A>C
ENST00000560509.5:c.2289A>C	ENSP00000454158.1:p.Leu763=
NM_000057.3:c.2289A>C	NP_000048.1:p.Leu763=
NM_001287246.1:c.2289A>C	NP_001274175.1:p.Leu763=
NM_001287247.1:c.2289A>C	NP_001274176.1:p.Leu763=
NM_001287248.1:c.1164A>C	NP_001274177.1:p.Leu388=
XM_006720632.2:c.327A>C	XP_006720695.1:p.Leu109=
XM_011521881.1:c.975A>C	XP_011520183.1:p.Leu325=
XM_011521882.1:c.2289A>C	XP_011520184.1:p.Leu763=
XM_011521881.2:c.975A>C	XP_011520183.1:p.Leu325=
XM_011521882.3:c.2289A>C	XP_011520184.1:p.Leu763=
NM_000057.4:c.2289A>C MANE Select	NP_000048.1:p.Leu763=
NM_001287246.2:c.2289A>C	NP_001274175.1:p.Leu763=
NM_001287247.2:c.2289A>C	NP_001274176.1:p.Leu763=
NM_001287248.2:c.1164A>C	NP_001274177.1:p.Leu388=