Canonical Allele Identifier: CA393848272

Gene: BLM

Linked Data

• ClinVar Variation Id: 1520199
• ClinVar RCV Id: RCV002043894
• dbSNP Id: rs771117920
• MyVariant Identifiers: chr15:g.91347569T>C (hg19) ; chr15:g.90804339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804339T>C , CM000677.2:g.90804339T>C	GRCh38
NC_000015.9:g.91347569T>C , CM000677.1:g.91347569T>C	GRCh37
NC_000015.8:g.89148573T>C	NCBI36
NG_007272.1:g.91968T>C , LRG_20:g.91968T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3731T>C MANE Select	ENSP00000347232.3:p.Val1244Ala
ENST00000560559.2:n.2304T>C
ENST00000648453.1:c.3731T>C	ENSP00000497646.1:p.Val1244Ala
ENST00000680772.1:c.3731T>C	ENSP00000506117.1:p.Val1244Ala
ENST00000681142.1:c.3731T>C	ENSP00000506682.1:p.Val1244Ala
ENST00000355112.7:c.3731T>C	ENSP00000347232.3:p.Val1244Ala
ENST00000558825.5:n.1078T>C
ENST00000559724.5:c.*2655T>C	ENSP00000453359.1:n.*2655T>C
ENST00000560136.5:n.1757T>C
ENST00000560509.5:c.3359-4798T>C	ENSP00000454158.1:n.3359-4798T>C
NM_000057.3:c.3731T>C	NP_000048.1:p.Val1244Ala
NM_001287246.1:c.3731T>C	NP_001274175.1:p.Val1244Ala
NM_001287247.1:c.3359-4798T>C	NP_001274176.1:n.3359-4798T>C
NM_001287248.1:c.2606T>C	NP_001274177.1:p.Val869Ala
XM_006720632.2:c.1769T>C	XP_006720695.1:p.Val590Ala
XM_011521881.1:c.2417T>C	XP_011520183.1:p.Val806Ala
XM_011521881.2:c.2417T>C	XP_011520183.1:p.Val806Ala
NM_000057.4:c.3731T>C MANE Select	NP_000048.1:p.Val1244Ala
NM_001287246.2:c.3731T>C	NP_001274175.1:p.Val1244Ala
NM_001287247.2:c.3359-4798T>C	NP_001274176.1:n.3359-4798T>C
NM_001287248.2:c.2606T>C	NP_001274177.1:p.Val869Ala