Canonical Allele Identifier: CA2573151409

Gene: BLM

Linked Data

• ClinVar Variation Id: 1546810
• ClinVar RCV Id: RCV002173142
• dbSNP Id: rs1896970434

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794148T>A , CM000677.2:g.90794148T>A	GRCh38
NC_000015.9:g.91337378T>A , CM000677.1:g.91337378T>A	GRCh37
NC_000015.8:g.89138382T>A	NCBI36
NG_007272.1:g.81777T>A , LRG_20:g.81777T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-19T>A MANE Select	ENSP00000347232.3:n.3020-19T>A
ENST00000560559.2:n.1593-19T>A
ENST00000648453.1:c.3020-19T>A	ENSP00000497646.1:n.3020-19T>A
ENST00000680772.1:c.3020-19T>A	ENSP00000506117.1:n.3020-19T>A
ENST00000681142.1:c.3020-19T>A	ENSP00000506682.1:n.3020-19T>A
ENST00000355112.7:c.3020-19T>A	ENSP00000347232.3:n.3020-19T>A
ENST00000558825.5:n.348T>A
ENST00000559724.5:c.*1944-19T>A	ENSP00000453359.1:n.*1944-19T>A
ENST00000560136.5:n.1046-19T>A
ENST00000560509.5:c.3020-19T>A	ENSP00000454158.1:n.3020-19T>A
ENST00000560559.1:n.557-19T>A
NM_000057.3:c.3020-19T>A	NP_000048.1:n.3020-19T>A
NM_001287246.1:c.3020-19T>A	NP_001274175.1:n.3020-19T>A
NM_001287247.1:c.3020-19T>A	NP_001274176.1:n.3020-19T>A
NM_001287248.1:c.1895-19T>A	NP_001274177.1:n.1895-19T>A
XM_006720632.2:c.1058-19T>A	XP_006720695.1:n.1058-19T>A
XM_011521881.1:c.1706-19T>A	XP_011520183.1:n.1706-19T>A
XM_011521881.2:c.1706-19T>A	XP_011520183.1:n.1706-19T>A
NM_000057.4:c.3020-19T>A MANE Select	NP_000048.1:n.3020-19T>A
NM_001287246.2:c.3020-19T>A	NP_001274175.1:n.3020-19T>A
NM_001287247.2:c.3020-19T>A	NP_001274176.1:n.3020-19T>A
NM_001287248.2:c.1895-19T>A	NP_001274177.1:n.1895-19T>A