Canonical Allele Identifier: CA16041779
Gene: BLM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370797
ClinVar RCV Id: RCV000412132
dbSNP Id: rs1057516774

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90803562G>T , CM000677.2:g.90803562G>T GRCh38
NC_000015.9:g.91346792G>T , CM000677.1:g.91346792G>T GRCh37
NC_000015.8:g.89147796G>T NCBI36
NG_007272.1:g.91191G>T , LRG_20:g.91191G>T

Transcript Alleles

HGVS Amino-acid change
NM_000057.3:c.3400G>T VV NP_000048.1:p.Gly1134Ter
NM_001287246.1:c.3400G>T VV NP_001274175.1:p.Gly1134Ter
NM_001287247.1:c.3358+5225G>T VV NP_001274176.1:p.=
NM_001287248.1:c.2275G>T VV NP_001274177.1:p.Gly759Ter
XM_006720632.2:c.1438G>T XP_006720695.1:p.Gly480Ter
XM_011521881.1:c.2086G>T XP_011520183.1:p.Gly696Ter
XM_011521881.2:c.2086G>T
ENST00000355112.7:c.3400G>T ENSP00000347232.3:p.Gly1134Ter
ENST00000558825.5:n.747G>T
ENST00000559724.5:c.*2324G>T ENSP00000453359.1:p.=
ENST00000560136.5:n.1426G>T
ENST00000560509.5:c.3358+5225G>T ENSP00000454158.1:p.=