Canonical Allele Identifier: CA2195282877

Gene: BLM

Linked Data

• ClinVar Variation Id: 1155494
• ClinVar RCV Id: RCV001497811
• dbSNP Id: rs1896143206
• gnomAD v4: 15-90766902-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766902A>G , CM000677.2:g.90766902A>G	GRCh38
NC_000015.9:g.91310132A>G , CM000677.1:g.91310132A>G	GRCh37
NC_000015.8:g.89111136A>G	NCBI36
NG_007272.1:g.54531A>G , LRG_20:g.54531A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2194-8A>G MANE Select	ENSP00000347232.3:n.2194-8A>G
ENST00000648453.1:c.2194-8A>G	ENSP00000497646.1:n.2194-8A>G
ENST00000680772.1:c.2194-8A>G	ENSP00000506117.1:n.2194-8A>G
ENST00000681142.1:c.2194-8A>G	ENSP00000506682.1:n.2194-8A>G
ENST00000355112.7:c.2194-8A>G	ENSP00000347232.3:n.2194-8A>G
ENST00000559426.5:n.371-8A>G
ENST00000559724.5:c.*1118-8A>G	ENSP00000453359.1:n.*1118-8A>G
ENST00000560136.5:n.220-8A>G
ENST00000560509.5:c.2194-8A>G	ENSP00000454158.1:n.2194-8A>G
NM_000057.3:c.2194-8A>G	NP_000048.1:n.2194-8A>G
NM_001287246.1:c.2194-8A>G	NP_001274175.1:n.2194-8A>G
NM_001287247.1:c.2194-8A>G	NP_001274176.1:n.2194-8A>G
NM_001287248.1:c.1069-8A>G	NP_001274177.1:n.1069-8A>G
XM_006720632.2:c.232-8A>G	XP_006720695.1:n.232-8A>G
XM_011521881.1:c.880-8A>G	XP_011520183.1:n.880-8A>G
XM_011521882.1:c.2194-8A>G	XP_011520184.1:n.2194-8A>G
XM_011521881.2:c.880-8A>G	XP_011520183.1:n.880-8A>G
XM_011521882.3:c.2194-8A>G	XP_011520184.1:n.2194-8A>G
NM_000057.4:c.2194-8A>G MANE Select	NP_000048.1:n.2194-8A>G
NM_001287246.2:c.2194-8A>G	NP_001274175.1:n.2194-8A>G
NM_001287247.2:c.2194-8A>G	NP_001274176.1:n.2194-8A>G
NM_001287248.2:c.1069-8A>G	NP_001274177.1:n.1069-8A>G