Canonical Allele Identifier: CA393848289

Gene: BLM

Linked Data

• ClinVar Variation Id: 2095782
• ClinVar RCV Id: RCV003013874
• MyVariant Identifiers: chr15:g.91347578A>G (hg19) ; chr15:g.90804348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804348A>G , CM000677.2:g.90804348A>G	GRCh38
NC_000015.9:g.91347578A>G , CM000677.1:g.91347578A>G	GRCh37
NC_000015.8:g.89148582A>G	NCBI36
NG_007272.1:g.91977A>G , LRG_20:g.91977A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3740A>G MANE Select	ENSP00000347232.3:p.Lys1247Arg
ENST00000560559.2:n.2313A>G
ENST00000648453.1:c.3740A>G	ENSP00000497646.1:p.Lys1247Arg
ENST00000680772.1:c.3740A>G	ENSP00000506117.1:p.Lys1247Arg
ENST00000681142.1:c.3740A>G	ENSP00000506682.1:p.Lys1247Arg
ENST00000355112.7:c.3740A>G	ENSP00000347232.3:p.Lys1247Arg
ENST00000558825.5:n.1087A>G
ENST00000559724.5:c.*2664A>G	ENSP00000453359.1:n.*2664A>G
ENST00000560136.5:n.1766A>G
ENST00000560509.5:c.3359-4789A>G	ENSP00000454158.1:n.3359-4789A>G
NM_000057.3:c.3740A>G	NP_000048.1:p.Lys1247Arg
NM_001287246.1:c.3740A>G	NP_001274175.1:p.Lys1247Arg
NM_001287247.1:c.3359-4789A>G	NP_001274176.1:n.3359-4789A>G
NM_001287248.1:c.2615A>G	NP_001274177.1:p.Lys872Arg
XM_006720632.2:c.1778A>G	XP_006720695.1:p.Lys593Arg
XM_011521881.1:c.2426A>G	XP_011520183.1:p.Lys809Arg
XM_011521881.2:c.2426A>G	XP_011520183.1:p.Lys809Arg
NM_000057.4:c.3740A>G MANE Select	NP_000048.1:p.Lys1247Arg
NM_001287246.2:c.3740A>G	NP_001274175.1:p.Lys1247Arg
NM_001287247.2:c.3359-4789A>G	NP_001274176.1:n.3359-4789A>G
NM_001287248.2:c.2615A>G	NP_001274177.1:p.Lys872Arg