Canonical Allele Identifier: CA7738570

Gene: BLM

Linked Data

• ClinVar Variation Id: 942901
• ClinVar RCV Id: RCV001212984
• dbSNP Id: rs780794194
• ExAC: 15:91304280 T / A
• gnomAD v2: 15-91304280-T-A
• gnomAD v4: 15-90761050-T-A
• MyVariant Identifiers: chr15:g.91304280T>A (hg19) ; chr15:g.90761050T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90761050T>A , CM000677.2:g.90761050T>A	GRCh38
NC_000015.9:g.91304280T>A , CM000677.1:g.91304280T>A	GRCh37
NC_000015.8:g.89105284T>A	NCBI36
NG_007272.1:g.48679T>A , LRG_20:g.48679T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.1677T>A MANE Select	ENSP00000347232.3:p.Asp559Glu
ENST00000648453.1:c.1677T>A	ENSP00000497646.1:p.Asp559Glu
ENST00000680772.1:c.1677T>A	ENSP00000506117.1:p.Asp559Glu
ENST00000681142.1:c.1677T>A	ENSP00000506682.1:p.Asp559Glu
ENST00000355112.7:c.1677T>A	ENSP00000347232.3:p.Asp559Glu
ENST00000559724.5:c.*601T>A	ENSP00000453359.1:n.*601T>A
ENST00000560509.5:c.1677T>A	ENSP00000454158.1:p.Asp559Glu
NM_000057.3:c.1677T>A	NP_000048.1:p.Asp559Glu
NM_001287246.1:c.1677T>A	NP_001274175.1:p.Asp559Glu
NM_001287247.1:c.1677T>A	NP_001274176.1:p.Asp559Glu
NM_001287248.1:c.552T>A	NP_001274177.1:p.Asp184Glu
XM_011521881.1:c.363T>A	XP_011520183.1:p.Asp121Glu
XM_011521882.1:c.1677T>A	XP_011520184.1:p.Asp559Glu
XM_011521881.2:c.363T>A	XP_011520183.1:p.Asp121Glu
XM_011521882.3:c.1677T>A	XP_011520184.1:p.Asp559Glu
NM_000057.4:c.1677T>A MANE Select	NP_000048.1:p.Asp559Glu
NM_001287246.2:c.1677T>A	NP_001274175.1:p.Asp559Glu
NM_001287247.2:c.1677T>A	NP_001274176.1:p.Asp559Glu
NM_001287248.2:c.552T>A	NP_001274177.1:p.Asp184Glu