Canonical Allele Identifier: CA157403
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133704
dbSNP Id: rs587778103

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90811399G>C , CM000677.2:g.90811399G>C GRCh38
NC_000015.9:g.91354629G>C , CM000677.1:g.91354629G>C GRCh37
NC_000015.8:g.89155633G>C NCBI36
NG_007272.1:g.99028G>C , LRG_20:g.99028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.4069G>C MANE Select ENSP00000347232.3:p.Ala1357Pro
ENST00000560559.2:n.2642G>C
ENST00000648453.1:c.4069G>C ENSP00000497646.1:p.Ala1357Pro
ENST00000680772.1:c.4069G>C ENSP00000506117.1:p.Ala1357Pro
ENST00000681142.1:c.4069G>C ENSP00000506682.1:p.Ala1357Pro
ENST00000355112.7:c.4069G>C ENSP00000347232.3:p.Ala1357Pro
ENST00000558825.5:n.1416G>C
ENST00000559724.5:c.*2993G>C ENSP00000453359.1:n.*2993G>C
ENST00000560509.5:c.3676G>C ENSP00000454158.1:p.Ala1226Pro
ENST00000560821.1:n.489G>C
NM_000057.3:c.4069G>C NP_000048.1:p.Ala1357Pro
NM_001287246.1:c.4069G>C NP_001274175.1:p.Ala1357Pro
NM_001287247.1:c.3676G>C NP_001274176.1:p.Ala1226Pro
NM_001287248.1:c.2944G>C NP_001274177.1:p.Ala982Pro
XM_006720632.2:c.2107G>C XP_006720695.1:p.Ala703Pro
XM_011521881.1:c.2755G>C XP_011520183.1:p.Ala919Pro
XM_011521881.2:c.2755G>C XP_011520183.1:p.Ala919Pro
NM_000057.4:c.4069G>C MANE Select NP_000048.1:p.Ala1357Pro
NM_001287246.2:c.4069G>C NP_001274175.1:p.Ala1357Pro
NM_001287247.2:c.3676G>C NP_001274176.1:p.Ala1226Pro
NM_001287248.2:c.2944G>C NP_001274177.1:p.Ala982Pro