Canonical Allele Identifier: CA7738414

Gene: BLM

Linked Data

• ClinVar Variation Id: 413284
• ClinVar RCV Id: RCV000566370 ; RCV000590533 ; RCV001080152 ; RCV001030683 ; RCV003151068 ; RCV003899947
• dbSNP Id: rs184657475
• ExAC: 15:91298125 G / A
• gnomAD v2: 15-91298125-G-A
• gnomAD v3: 15-90754895-G-A
• gnomAD v4: 15-90754895-G-A
• COSMIC: COSM1580597
• MyVariant Identifiers: chr15:g.91298125G>A (hg19) ; chr15:g.90754895G>A (hg38)
• PubMed: PMID:23292937

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754895G>A , CM000677.2:g.90754895G>A	GRCh38
NC_000015.9:g.91298125G>A , CM000677.1:g.91298125G>A	GRCh37
NC_000015.8:g.89099129G>A	NCBI36
NG_007272.1:g.42524G>A , LRG_20:g.42524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.1044G>A MANE Select	ENSP00000347232.3:p.Met348Ile
ENST00000648453.1:c.1044G>A	ENSP00000497646.1:p.Met348Ile
ENST00000680772.1:c.1044G>A	ENSP00000506117.1:p.Met348Ile
ENST00000681142.1:c.1044G>A	ENSP00000506682.1:p.Met348Ile
ENST00000355112.7:c.1044G>A	ENSP00000347232.3:p.Met348Ile
ENST00000558599.1:n.305G>A
ENST00000559724.5:c.1044G>A	ENSP00000453359.1:p.Met348Ile
ENST00000560509.5:c.1044G>A	ENSP00000454158.1:p.Met348Ile
NM_000057.3:c.1044G>A	NP_000048.1:p.Met348Ile
NM_001287246.1:c.1044G>A	NP_001274175.1:p.Met348Ile
NM_001287247.1:c.1044G>A	NP_001274176.1:p.Met348Ile
NM_001287248.1:c.-248G>A	NP_001274177.1:n.-248G>A
XM_011521881.1:c.-138G>A	XP_011520183.1:n.-138G>A
XM_011521882.1:c.1044G>A	XP_011520184.1:p.Met348Ile
XM_011521881.2:c.-138G>A	XP_011520183.1:n.-138G>A
XM_011521882.3:c.1044G>A	XP_011520184.1:p.Met348Ile
NM_000057.4:c.1044G>A MANE Select	NP_000048.1:p.Met348Ile
NM_001287246.2:c.1044G>A	NP_001274175.1:p.Met348Ile
NM_001287247.2:c.1044G>A	NP_001274176.1:p.Met348Ile
NM_001287248.2:c.-248G>A	NP_001274177.1:n.-248G>A