Canonical Allele Identifier: CA287064

Gene: BLM

Linked Data

• ClinVar Variation Id: 127481
• ClinVar RCV Id: RCV000115287 ; RCV000812341 ; RCV002415592
• dbSNP Id: rs587779880
• gnomAD v4: 15-90763162-G-A
• MyVariant Identifiers: chr15:g.91306392G>A (hg19) ; chr15:g.90763162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90763162G>A , CM000677.2:g.90763162G>A	GRCh38
NC_000015.9:g.91306392G>A , CM000677.1:g.91306392G>A	GRCh37
NC_000015.8:g.89107396G>A	NCBI36
NG_007272.1:g.50791G>A , LRG_20:g.50791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2074+5G>A MANE Select	ENSP00000347232.3:n.2074+5G>A
ENST00000648453.1:c.2074+5G>A	ENSP00000497646.1:n.2074+5G>A
ENST00000680772.1:c.2074+5G>A	ENSP00000506117.1:n.2074+5G>A
ENST00000681142.1:c.2074+5G>A	ENSP00000506682.1:n.2074+5G>A
ENST00000355112.7:c.2074+5G>A	ENSP00000347232.3:n.2074+5G>A
ENST00000559426.5:n.251+5G>A
ENST00000559724.5:c.*998+5G>A	ENSP00000453359.1:n.*998+5G>A
ENST00000560136.5:n.219+5G>A
ENST00000560509.5:c.2074+5G>A	ENSP00000454158.1:n.2074+5G>A
NM_000057.3:c.2074+5G>A	NP_000048.1:n.2074+5G>A
NM_001287246.1:c.2074+5G>A	NP_001274175.1:n.2074+5G>A
NM_001287247.1:c.2074+5G>A	NP_001274176.1:n.2074+5G>A
NM_001287248.1:c.949+5G>A	NP_001274177.1:n.949+5G>A
XM_006720632.2:c.112+5G>A	XP_006720695.1:n.112+5G>A
XM_011521881.1:c.760+5G>A	XP_011520183.1:n.760+5G>A
XM_011521882.1:c.2074+5G>A	XP_011520184.1:n.2074+5G>A
XM_011521881.2:c.760+5G>A	XP_011520183.1:n.760+5G>A
XM_011521882.3:c.2074+5G>A	XP_011520184.1:n.2074+5G>A
NM_000057.4:c.2074+5G>A MANE Select	NP_000048.1:n.2074+5G>A
NM_001287246.2:c.2074+5G>A	NP_001274175.1:n.2074+5G>A
NM_001287247.2:c.2074+5G>A	NP_001274176.1:n.2074+5G>A
NM_001287248.2:c.949+5G>A	NP_001274177.1:n.949+5G>A