Canonical Allele Identifier: CA253496

Gene: BLM

Linked Data

• ClinVar Variation Id: 5457
• ClinVar RCV Id: RCV000005790
• dbSNP Id: rs137853153
• MyVariant Identifiers: chr15:g.91337484G>T (hg19) ; chr15:g.90794254G>T (hg38)
• PubMed: PMID:9285778

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794254G>T , CM000677.2:g.90794254G>T	GRCh38
NC_000015.9:g.91337484G>T , CM000677.1:g.91337484G>T	GRCh37
NC_000015.8:g.89138488G>T	NCBI36
NG_007272.1:g.81883G>T , LRG_20:g.81883G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3107G>T MANE Select	ENSP00000347232.3:p.Cys1036Phe
ENST00000560559.2:n.1680G>T
ENST00000648453.1:c.3107G>T	ENSP00000497646.1:p.Cys1036Phe
ENST00000680772.1:c.3107G>T	ENSP00000506117.1:p.Cys1036Phe
ENST00000681142.1:c.3107G>T	ENSP00000506682.1:p.Cys1036Phe
ENST00000355112.7:c.3107G>T	ENSP00000347232.3:p.Cys1036Phe
ENST00000558825.5:n.454G>T
ENST00000559724.5:c.*2031G>T	ENSP00000453359.1:n.*2031G>T
ENST00000560136.5:n.1133G>T
ENST00000560509.5:c.3107G>T	ENSP00000454158.1:p.Cys1036Phe
ENST00000560559.1:n.644G>T
NM_000057.3:c.3107G>T	NP_000048.1:p.Cys1036Phe
NM_001287246.1:c.3107G>T	NP_001274175.1:p.Cys1036Phe
NM_001287247.1:c.3107G>T	NP_001274176.1:p.Cys1036Phe
NM_001287248.1:c.1982G>T	NP_001274177.1:p.Cys661Phe
XM_006720632.2:c.1145G>T	XP_006720695.1:p.Cys382Phe
XM_011521881.1:c.1793G>T	XP_011520183.1:p.Cys598Phe
XM_011521881.2:c.1793G>T	XP_011520183.1:p.Cys598Phe
NM_000057.4:c.3107G>T MANE Select	NP_000048.1:p.Cys1036Phe
NM_001287246.2:c.3107G>T	NP_001274175.1:p.Cys1036Phe
NM_001287247.2:c.3107G>T	NP_001274176.1:p.Cys1036Phe
NM_001287248.2:c.1982G>T	NP_001274177.1:p.Cys661Phe