Canonical Allele Identifier: CA393846612

Gene: BLM

Linked Data

• ClinVar Variation Id: 1410176
• ClinVar RCV Id: RCV001916319
• dbSNP Id: rs2151184755
• MyVariant Identifiers: chr15:g.91334066T>A (hg19) ; chr15:g.90790836T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790836T>A , CM000677.2:g.90790836T>A	GRCh38
NC_000015.9:g.91334066T>A , CM000677.1:g.91334066T>A	GRCh37
NC_000015.8:g.89135070T>A	NCBI36
NG_007272.1:g.78465T>A , LRG_20:g.78465T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3011T>A MANE Select	ENSP00000347232.3:p.Leu1004His
ENST00000560559.2:n.1584T>A
ENST00000648453.1:c.3011T>A	ENSP00000497646.1:p.Leu1004His
ENST00000680772.1:c.3011T>A	ENSP00000506117.1:p.Leu1004His
ENST00000681142.1:c.3011T>A	ENSP00000506682.1:p.Leu1004His
ENST00000355112.7:c.3011T>A	ENSP00000347232.3:p.Leu1004His
ENST00000559724.5:c.*1935T>A	ENSP00000453359.1:n.*1935T>A
ENST00000560136.5:n.1037T>A
ENST00000560509.5:c.3011T>A	ENSP00000454158.1:p.Leu1004His
ENST00000560559.1:n.548T>A
NM_000057.3:c.3011T>A	NP_000048.1:p.Leu1004His
NM_001287246.1:c.3011T>A	NP_001274175.1:p.Leu1004His
NM_001287247.1:c.3011T>A	NP_001274176.1:p.Leu1004His
NM_001287248.1:c.1886T>A	NP_001274177.1:p.Leu629His
XM_006720632.2:c.1049T>A	XP_006720695.1:p.Leu350His
XM_011521881.1:c.1697T>A	XP_011520183.1:p.Leu566His
XM_011521881.2:c.1697T>A	XP_011520183.1:p.Leu566His
NM_000057.4:c.3011T>A MANE Select	NP_000048.1:p.Leu1004His
NM_001287246.2:c.3011T>A	NP_001274175.1:p.Leu1004His
NM_001287247.2:c.3011T>A	NP_001274176.1:p.Leu1004His
NM_001287248.2:c.1886T>A	NP_001274177.1:p.Leu629His