Canonical Allele Identifier: CA393846671

Gene: BLM

Linked Data

• ClinVar Variation Id: 576518
• ClinVar RCV Id: RCV002269304
• dbSNP Id: rs1459742200
• gnomAD v4: 15-90794176-A-T
• MyVariant Identifiers: chr15:g.91337406A>T (hg19) ; chr15:g.90794176A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794176A>T , CM000677.2:g.90794176A>T	GRCh38
NC_000015.9:g.91337406A>T , CM000677.1:g.91337406A>T	GRCh37
NC_000015.8:g.89138410A>T	NCBI36
NG_007272.1:g.81805A>T , LRG_20:g.81805A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3029A>T MANE Select	ENSP00000347232.3:p.Asp1010Val
ENST00000560559.2:n.1602A>T
ENST00000648453.1:c.3029A>T	ENSP00000497646.1:p.Asp1010Val
ENST00000680772.1:c.3029A>T	ENSP00000506117.1:p.Asp1010Val
ENST00000681142.1:c.3029A>T	ENSP00000506682.1:p.Asp1010Val
ENST00000355112.7:c.3029A>T	ENSP00000347232.3:p.Asp1010Val
ENST00000558825.5:n.376A>T
ENST00000559724.5:c.*1953A>T	ENSP00000453359.1:n.*1953A>T
ENST00000560136.5:n.1055A>T
ENST00000560509.5:c.3029A>T	ENSP00000454158.1:p.Asp1010Val
ENST00000560559.1:n.566A>T
NM_000057.3:c.3029A>T	NP_000048.1:p.Asp1010Val
NM_001287246.1:c.3029A>T	NP_001274175.1:p.Asp1010Val
NM_001287247.1:c.3029A>T	NP_001274176.1:p.Asp1010Val
NM_001287248.1:c.1904A>T	NP_001274177.1:p.Asp635Val
XM_006720632.2:c.1067A>T	XP_006720695.1:p.Asp356Val
XM_011521881.1:c.1715A>T	XP_011520183.1:p.Asp572Val
XM_011521881.2:c.1715A>T	XP_011520183.1:p.Asp572Val
NM_000057.4:c.3029A>T MANE Select	NP_000048.1:p.Asp1010Val
NM_001287246.2:c.3029A>T	NP_001274175.1:p.Asp1010Val
NM_001287247.2:c.3029A>T	NP_001274176.1:p.Asp1010Val
NM_001287248.2:c.1904A>T	NP_001274177.1:p.Asp635Val