Canonical Allele Identifier: CA274727856

Gene: BLM

Linked Data

• ClinVar Variation Id: 524757
• ClinVar RCV Id: RCV000628616 ; RCV002431843 ; RCV003432654
• dbSNP Id: rs377192173
• gnomAD v2: 15-91292746-A-G
• gnomAD v4: 15-90749516-A-G
• MyVariant Identifiers: chr15:g.91292746A>G (hg19) ; chr15:g.90749516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749516A>G , CM000677.2:g.90749516A>G	GRCh38
NC_000015.9:g.91292746A>G , CM000677.1:g.91292746A>G	GRCh37
NC_000015.8:g.89093750A>G	NCBI36
NG_007272.1:g.37145A>G , LRG_20:g.37145A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.248A>G MANE Select	ENSP00000347232.3:p.Gln83Arg
ENST00000648453.1:c.248A>G	ENSP00000497646.1:p.Gln83Arg
ENST00000680772.1:c.248A>G	ENSP00000506117.1:p.Gln83Arg
ENST00000681142.1:c.248A>G	ENSP00000506682.1:p.Gln83Arg
ENST00000355112.7:c.248A>G	ENSP00000347232.3:p.Gln83Arg
ENST00000559282.1:n.422A>G
ENST00000559724.5:c.248A>G	ENSP00000453359.1:p.Gln83Arg
ENST00000560509.5:c.248A>G	ENSP00000454158.1:p.Gln83Arg
NM_000057.3:c.248A>G	NP_000048.1:p.Gln83Arg
NM_001287246.1:c.248A>G	NP_001274175.1:p.Gln83Arg
NM_001287247.1:c.248A>G	NP_001274176.1:p.Gln83Arg
NM_001287248.1:c.-1044A>G	NP_001274177.1:n.-1044A>G
XM_011521882.1:c.248A>G	XP_011520184.1:p.Gln83Arg
XM_011521882.3:c.248A>G	XP_011520184.1:p.Gln83Arg
NM_000057.4:c.248A>G MANE Select	NP_000048.1:p.Gln83Arg
NM_001287246.2:c.248A>G	NP_001274175.1:p.Gln83Arg
NM_001287247.2:c.248A>G	NP_001274176.1:p.Gln83Arg
NM_001287248.2:c.-1044A>G	NP_001274177.1:n.-1044A>G