Canonical Allele Identifier: CA7738540
Gene: BLM HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.90760847T>C
GRCh37 chr15:g.91304077T>C
Revel Score:
ENST00000355112 (MANE Select) 0.021
ENST00000536925 0.021
gnomAD v2:
15:91304077 T / C
gnomAD v3:
15:90760847 T / C
gnomAD v4:
chr15-90760847-T-C
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar Allele:
529487
ClinVar RCV:
RCV000628667
RCV001011740
RCV003317305
ClinVar Variation:
524800
dbSNP:
764182382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90760847T>C , CM000677.2:g.90760847T>C GRCh38
NC_000015.9:g.91304077T>C , CM000677.1:g.91304077T>C GRCh37
NC_000015.8:g.89105081T>C NCBI36
NG_007272.1:g.48476T>C , LRG_20:g.48476T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.1474T>C MANE Select ENSP00000347232.3:p.Phe492Leu
ENST00000648453.1:c.1474T>C ENSP00000497646.1:p.Phe492Leu
ENST00000680772.1:c.1474T>C ENSP00000506117.1:p.Phe492Leu
ENST00000681142.1:c.1474T>C ENSP00000506682.1:p.Phe492Leu
ENST00000355112.7:c.1474T>C ENSP00000347232.3:p.Phe492Leu
ENST00000559724.5:c.*398T>C ENSP00000453359.1:n.*398T>C
ENST00000560509.5:c.1474T>C ENSP00000454158.1:p.Phe492Leu
NM_000057.3:c.1474T>C NP_000048.1:p.Phe492Leu
NM_001287246.1:c.1474T>C NP_001274175.1:p.Phe492Leu
NM_001287247.1:c.1474T>C NP_001274176.1:p.Phe492Leu
NM_001287248.1:c.349T>C NP_001274177.1:p.Phe117Leu
XM_011521881.1:c.160T>C XP_011520183.1:p.Phe54Leu
XM_011521882.1:c.1474T>C XP_011520184.1:p.Phe492Leu
XM_011521881.2:c.160T>C XP_011520183.1:p.Phe54Leu
XM_011521882.3:c.1474T>C XP_011520184.1:p.Phe492Leu
NM_000057.4:c.1474T>C MANE Select NP_000048.1:p.Phe492Leu
NM_001287246.2:c.1474T>C NP_001274175.1:p.Phe492Leu
NM_001287247.2:c.1474T>C NP_001274176.1:p.Phe492Leu
NM_001287248.2:c.349T>C NP_001274177.1:p.Phe117Leu
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