Canonical Allele Identifier: CA287100
Gene: BLM HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.90803589G>A
GRCh37 chr15:g.91346819G>A
Revel Score:
ENST00000355112 (MANE Select) 0.337
ENST00000536925 0.337
ENST00000543977 0.337
gnomAD v2:
15:91346819 G / A
gnomAD v3:
15:90803589 G / A
gnomAD v4:
chr15-90803589-G-A
Joint Max Group AF 0.00009359 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00009381 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90803589G>A , CM000677.2:g.90803589G>A GRCh38
NC_000015.9:g.91346819G>A , CM000677.1:g.91346819G>A GRCh37
NC_000015.8:g.89147823G>A NCBI36
NG_007272.1:g.91218G>A , LRG_20:g.91218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3427G>A MANE Select ENSP00000347232.3:p.Glu1143Lys
ENST00000560559.2:n.2000G>A
ENST00000648453.1:c.3427G>A ENSP00000497646.1:p.Glu1143Lys
ENST00000680772.1:c.3427G>A ENSP00000506117.1:p.Glu1143Lys
ENST00000681142.1:c.3427G>A ENSP00000506682.1:p.Glu1143Lys
ENST00000355112.7:c.3427G>A ENSP00000347232.3:p.Glu1143Lys
ENST00000558825.5:n.774G>A
ENST00000559724.5:c.*2351G>A ENSP00000453359.1:n.*2351G>A
ENST00000560136.5:n.1453G>A
ENST00000560509.5:c.3358+5252G>A ENSP00000454158.1:n.3358+5252G>A
NM_000057.3:c.3427G>A NP_000048.1:p.Glu1143Lys
NM_001287246.1:c.3427G>A NP_001274175.1:p.Glu1143Lys
NM_001287247.1:c.3358+5252G>A NP_001274176.1:n.3358+5252G>A
NM_001287248.1:c.2302G>A NP_001274177.1:p.Glu768Lys
XM_006720632.2:c.1465G>A XP_006720695.1:p.Glu489Lys
XM_011521881.1:c.2113G>A XP_011520183.1:p.Glu705Lys
XM_011521881.2:c.2113G>A XP_011520183.1:p.Glu705Lys
NM_000057.4:c.3427G>A MANE Select NP_000048.1:p.Glu1143Lys
NM_001287246.2:c.3427G>A NP_001274175.1:p.Glu1143Lys
NM_001287247.2:c.3358+5252G>A NP_001274176.1:n.3358+5252G>A
NM_001287248.2:c.2302G>A NP_001274177.1:p.Glu768Lys
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