Canonical Allele Identifier: CA16041764
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 370566
ClinVar RCV Id: RCV000412038 RCV003168589
dbSNP Id: rs1057516593
gnomAD v4: 15-90747394-T-C
MyVariant Identifiers: chr15:g.91290624T>C (hg19) chr15:g.90747394T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90747394T>C , CM000677.2:g.90747394T>C GRCh38
NC_000015.9:g.91290624T>C , CM000677.1:g.91290624T>C GRCh37
NC_000015.8:g.89091628T>C NCBI36
NG_007272.1:g.35023T>C , LRG_20:g.35023T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.2T>C MANE Select ENSP00000347232.3:p.Met1Thr
ENST00000648453.1:c.2T>C ENSP00000497646.1:p.Met1Thr
ENST00000680772.1:c.2T>C ENSP00000506117.1:p.Met1Thr
ENST00000681142.1:c.2T>C ENSP00000506682.1:p.Met1Thr
ENST00000355112.7:c.2T>C ENSP00000347232.3:p.Met1Thr
ENST00000559282.1:n.5T>C
ENST00000559724.5:c.2T>C ENSP00000453359.1:p.Met1Thr
ENST00000560509.5:c.2T>C ENSP00000454158.1:p.Met1Thr
NM_000057.3:c.2T>C NP_000048.1:p.Met1Thr
NM_001287246.1:c.2T>C NP_001274175.1:p.Met1Thr
NM_001287247.1:c.2T>C NP_001274176.1:p.Met1Thr
NM_001287248.1:c.-1290T>C NP_001274177.1:n.-1290T>C
XM_011521882.1:c.2T>C XP_011520184.1:p.Met1Thr
XM_011521882.3:c.2T>C XP_011520184.1:p.Met1Thr
NM_000057.4:c.2T>C MANE Select NP_000048.1:p.Met1Thr
NM_001287246.2:c.2T>C NP_001274175.1:p.Met1Thr
NM_001287247.2:c.2T>C NP_001274176.1:p.Met1Thr
NM_001287248.2:c.-1290T>C NP_001274177.1:n.-1290T>C
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