Canonical Allele Identifier: CA145692

Gene: BLM

Linked Data

• ClinVar Variation Id: 92392
• ClinVar RCV Id: RCV000078057 ; RCV000297248 ; RCV001711178
• dbSNP Id: rs3815003
• ExAC: 15:91312823 T / C
• gnomAD v2: 15-91312823-T-C
• gnomAD v3: 15-90769593-T-C
• gnomAD v4: 15-90769593-T-C
• MyVariant Identifiers: chr15:g.91312823T>C (hg19) ; chr15:g.90769593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90769593T>C , CM000677.2:g.90769593T>C	GRCh38
NC_000015.9:g.91312823T>C , CM000677.1:g.91312823T>C	GRCh37
NC_000015.8:g.89113827T>C	NCBI36
NG_007272.1:g.57222T>C , LRG_20:g.57222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2555+7T>C MANE Select	ENSP00000347232.3:n.2555+7T>C
ENST00000648453.1:c.2555+7T>C	ENSP00000497646.1:n.2555+7T>C
ENST00000680772.1:c.2555+7T>C	ENSP00000506117.1:n.2555+7T>C
ENST00000681142.1:c.2555+7T>C	ENSP00000506682.1:n.2555+7T>C
ENST00000355112.7:c.2555+7T>C	ENSP00000347232.3:n.2555+7T>C
ENST00000559724.5:c.*1479+7T>C	ENSP00000453359.1:n.*1479+7T>C
ENST00000560136.5:n.581+7T>C
ENST00000560509.5:c.2555+7T>C	ENSP00000454158.1:n.2555+7T>C
NM_000057.3:c.2555+7T>C	NP_000048.1:n.2555+7T>C
NM_001287246.1:c.2555+7T>C	NP_001274175.1:n.2555+7T>C
NM_001287247.1:c.2555+7T>C	NP_001274176.1:n.2555+7T>C
NM_001287248.1:c.1430+7T>C	NP_001274177.1:n.1430+7T>C
XM_006720632.2:c.593+7T>C	XP_006720695.1:n.593+7T>C
XM_011521881.1:c.1241+7T>C	XP_011520183.1:n.1241+7T>C
XM_011521882.1:c.2555+7T>C	XP_011520184.1:n.2555+7T>C
XM_011521881.2:c.1241+7T>C	XP_011520183.1:n.1241+7T>C
XM_011521882.3:c.2555+7T>C	XP_011520184.1:n.2555+7T>C
NM_000057.4:c.2555+7T>C MANE Select	NP_000048.1:n.2555+7T>C
NM_001287246.2:c.2555+7T>C	NP_001274175.1:n.2555+7T>C
NM_001287247.2:c.2555+7T>C	NP_001274176.1:n.2555+7T>C
NM_001287248.2:c.1430+7T>C	NP_001274177.1:n.1430+7T>C