Canonical Allele Identifier: CA152050

Gene: BLM

Linked Data

• ClinVar Variation Id: 127480
• ClinVar RCV Id: RCV000116502 ; RCV000211548 ; RCV000565415 ; RCV000857778 ; RCV003891606
• dbSNP Id: rs12720097
• ExAC: 15:91306241 G / A
• gnomAD v2: 15-91306241-G-A
• gnomAD v3: 15-90763011-G-A
• gnomAD v4: 15-90763011-G-A
• MyVariant Identifiers: chr15:g.91306241G>A (hg19) ; chr15:g.90763011G>A (hg38)
• PubMed: PMID:24728327 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90763011G>A , CM000677.2:g.90763011G>A	GRCh38
NC_000015.9:g.91306241G>A , CM000677.1:g.91306241G>A	GRCh37
NC_000015.8:g.89107245G>A	NCBI36
NG_007272.1:g.50640G>A , LRG_20:g.50640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.1928G>A MANE Select	ENSP00000347232.3:p.Arg643His
ENST00000648453.1:c.1928G>A	ENSP00000497646.1:p.Arg643His
ENST00000680772.1:c.1928G>A	ENSP00000506117.1:p.Arg643His
ENST00000681142.1:c.1928G>A	ENSP00000506682.1:p.Arg643His
ENST00000355112.7:c.1928G>A	ENSP00000347232.3:p.Arg643His
ENST00000559426.5:n.105G>A
ENST00000559724.5:c.*852G>A	ENSP00000453359.1:n.*852G>A
ENST00000560136.5:n.73G>A
ENST00000560509.5:c.1928G>A	ENSP00000454158.1:p.Arg643His
NM_000057.3:c.1928G>A	NP_000048.1:p.Arg643His
NM_001287246.1:c.1928G>A	NP_001274175.1:p.Arg643His
NM_001287247.1:c.1928G>A	NP_001274176.1:p.Arg643His
NM_001287248.1:c.803G>A	NP_001274177.1:p.Arg268His
XM_006720632.2:c.-35G>A	XP_006720695.1:n.-35G>A
XM_011521881.1:c.614G>A	XP_011520183.1:p.Arg205His
XM_011521882.1:c.1928G>A	XP_011520184.1:p.Arg643His
XM_011521881.2:c.614G>A	XP_011520183.1:p.Arg205His
XM_011521882.3:c.1928G>A	XP_011520184.1:p.Arg643His
NM_000057.4:c.1928G>A MANE Select	NP_000048.1:p.Arg643His
NM_001287246.2:c.1928G>A	NP_001274175.1:p.Arg643His
NM_001287247.2:c.1928G>A	NP_001274176.1:p.Arg643His
NM_001287248.2:c.803G>A	NP_001274177.1:p.Arg268His