Canonical Allele Identifier: CA7738669
Gene: BLM HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.90765382G>A
GRCh37 chr15:g.91308612G>A
Revel Score:
ENST00000355112 (MANE Select) 0.026
ENST00000536925 0.026
gnomAD v2:
15:91308612 G / A
gnomAD v3:
15:90765382 G / A
gnomAD v4:
chr15-90765382-G-A
Joint Max Group AF 0.00019913 (SAS)
Genomes Max Group AF 0.00007293 (SAS)
Exomes Max Group AF 0.00019177 (SAS)
ClinVar Allele:
464692
ClinVar RCV:
RCV000527567
RCV001014494
ClinVar Variation:
454096
dbSNP:
559554788
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90765382G>A , CM000677.2:g.90765382G>A GRCh38
NC_000015.9:g.91308612G>A , CM000677.1:g.91308612G>A GRCh37
NC_000015.8:g.89109616G>A NCBI36
NG_007272.1:g.53011G>A , LRG_20:g.53011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.2161G>A MANE Select ENSP00000347232.3:p.Val721Ile
ENST00000648453.1:c.2161G>A ENSP00000497646.1:p.Val721Ile
ENST00000680772.1:c.2161G>A ENSP00000506117.1:p.Val721Ile
ENST00000681142.1:c.2161G>A ENSP00000506682.1:p.Val721Ile
ENST00000355112.7:c.2161G>A ENSP00000347232.3:p.Val721Ile
ENST00000559426.5:n.338G>A
ENST00000559724.5:c.*1085G>A ENSP00000453359.1:n.*1085G>A
ENST00000560136.5:n.220-1528G>A
ENST00000560509.5:c.2161G>A ENSP00000454158.1:p.Val721Ile
NM_000057.3:c.2161G>A NP_000048.1:p.Val721Ile
NM_001287246.1:c.2161G>A NP_001274175.1:p.Val721Ile
NM_001287247.1:c.2161G>A NP_001274176.1:p.Val721Ile
NM_001287248.1:c.1036G>A NP_001274177.1:p.Val346Ile
XM_006720632.2:c.199G>A XP_006720695.1:p.Val67Ile
XM_011521881.1:c.847G>A XP_011520183.1:p.Val283Ile
XM_011521882.1:c.2161G>A XP_011520184.1:p.Val721Ile
XM_011521881.2:c.847G>A XP_011520183.1:p.Val283Ile
XM_011521882.3:c.2161G>A XP_011520184.1:p.Val721Ile
NM_000057.4:c.2161G>A MANE Select NP_000048.1:p.Val721Ile
NM_001287246.2:c.2161G>A NP_001274175.1:p.Val721Ile
NM_001287247.2:c.2161G>A NP_001274176.1:p.Val721Ile
NM_001287248.2:c.1036G>A NP_001274177.1:p.Val346Ile
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