Canonical Allele Identifier: CA393842114

Gene: BLM

Linked Data

• ClinVar Variation Id: 1479076
• ClinVar RCV Id: RCV001976602
• dbSNP Id: rs2151152205
• MyVariant Identifiers: chr15:g.91298101T>A (hg19) ; chr15:g.90754871T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754871T>A , CM000677.2:g.90754871T>A	GRCh38
NC_000015.9:g.91298101T>A , CM000677.1:g.91298101T>A	GRCh37
NC_000015.8:g.89099105T>A	NCBI36
NG_007272.1:g.42500T>A , LRG_20:g.42500T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.1020T>A MANE Select	ENSP00000347232.3:p.Asp340Glu
ENST00000648453.1:c.1020T>A	ENSP00000497646.1:p.Asp340Glu
ENST00000680772.1:c.1020T>A	ENSP00000506117.1:p.Asp340Glu
ENST00000681142.1:c.1020T>A	ENSP00000506682.1:p.Asp340Glu
ENST00000355112.7:c.1020T>A	ENSP00000347232.3:p.Asp340Glu
ENST00000558599.1:n.281T>A
ENST00000559724.5:c.1020T>A	ENSP00000453359.1:p.Asp340Glu
ENST00000560509.5:c.1020T>A	ENSP00000454158.1:p.Asp340Glu
NM_000057.3:c.1020T>A	NP_000048.1:p.Asp340Glu
NM_001287246.1:c.1020T>A	NP_001274175.1:p.Asp340Glu
NM_001287247.1:c.1020T>A	NP_001274176.1:p.Asp340Glu
NM_001287248.1:c.-272T>A	NP_001274177.1:n.-272T>A
XM_011521881.1:c.-162T>A	XP_011520183.1:n.-162T>A
XM_011521882.1:c.1020T>A	XP_011520184.1:p.Asp340Glu
XM_011521881.2:c.-162T>A	XP_011520183.1:n.-162T>A
XM_011521882.3:c.1020T>A	XP_011520184.1:p.Asp340Glu
NM_000057.4:c.1020T>A MANE Select	NP_000048.1:p.Asp340Glu
NM_001287246.2:c.1020T>A	NP_001274175.1:p.Asp340Glu
NM_001287247.2:c.1020T>A	NP_001274176.1:p.Asp340Glu
NM_001287248.2:c.-272T>A	NP_001274177.1:n.-272T>A