Canonical Allele Identifier: CA7738295
Gene: BLM HGNC NCBI
COSMIC:
COSM4979343 (not active)
MyVariant.info:
GRCh38 chr15:g.90749725G>C
GRCh37 chr15:g.91292955G>C
Revel Score:
ENST00000355112 (MANE Select) 0.103
gnomAD v2:
15:91292955 G / C
gnomAD v3:
15:90749725 G / C
gnomAD v4:
chr15-90749725-G-C
Joint Max Group AF 0.000133 (AFR)
Genomes Max Group AF 0.00006283 (AFR)
Exomes Max Group AF 0.00016125 (AFR)
ClinVar RCV:
RCV000557191
RCV002341244
ClinVar Variation:
454155
dbSNP:
368158276
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90749725G>C , CM000677.2:g.90749725G>C GRCh38
NC_000015.9:g.91292955G>C , CM000677.1:g.91292955G>C GRCh37
NC_000015.8:g.89093959G>C NCBI36
NG_007272.1:g.37354G>C , LRG_20:g.37354G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.457G>C MANE Select ENSP00000347232.3:p.Asp153His
ENST00000648453.1:c.457G>C ENSP00000497646.1:p.Asp153His
ENST00000680772.1:c.457G>C ENSP00000506117.1:p.Asp153His
ENST00000681142.1:c.457G>C ENSP00000506682.1:p.Asp153His
ENST00000355112.7:c.457G>C ENSP00000347232.3:p.Asp153His
ENST00000559282.1:n.631G>C
ENST00000559724.5:c.457G>C ENSP00000453359.1:p.Asp153His
ENST00000560509.5:c.457G>C ENSP00000454158.1:p.Asp153His
NM_000057.3:c.457G>C NP_000048.1:p.Asp153His
NM_001287246.1:c.457G>C NP_001274175.1:p.Asp153His
NM_001287247.1:c.457G>C NP_001274176.1:p.Asp153His
NM_001287248.1:c.-835G>C NP_001274177.1:n.-835G>C
XM_011521882.1:c.457G>C XP_011520184.1:p.Asp153His
XM_011521882.3:c.457G>C XP_011520184.1:p.Asp153His
NM_000057.4:c.457G>C MANE Select NP_000048.1:p.Asp153His
NM_001287246.2:c.457G>C NP_001274175.1:p.Asp153His
NM_001287247.2:c.457G>C NP_001274176.1:p.Asp153His
NM_001287248.2:c.-835G>C NP_001274177.1:n.-835G>C
Search 100 bp 5'
Search 100 bp 3'