Canonical Allele Identifier: CA7739088

Gene: BLM

Linked Data

• ClinVar Variation Id: 2790927
• ClinVar RCV Id: RCV003614384
• dbSNP Id: rs570411065
• ExAC: 15:91347501 A / G
• gnomAD v2: 15-91347501-A-G
• MyVariant Identifiers: chr15:g.91347501A>G (hg19) ; chr15:g.90804271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804271A>G , CM000677.2:g.90804271A>G	GRCh38
NC_000015.9:g.91347501A>G , CM000677.1:g.91347501A>G	GRCh37
NC_000015.8:g.89148505A>G	NCBI36
NG_007272.1:g.91900A>G , LRG_20:g.91900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3663A>G MANE Select	ENSP00000347232.3:p.Glu1221=
ENST00000560559.2:n.2236A>G
ENST00000648453.1:c.3663A>G	ENSP00000497646.1:p.Glu1221=
ENST00000680772.1:c.3663A>G	ENSP00000506117.1:p.Glu1221=
ENST00000681142.1:c.3663A>G	ENSP00000506682.1:p.Glu1221=
ENST00000355112.7:c.3663A>G	ENSP00000347232.3:p.Glu1221=
ENST00000558825.5:n.1010A>G
ENST00000559724.5:c.*2587A>G	ENSP00000453359.1:n.*2587A>G
ENST00000560136.5:n.1689A>G
ENST00000560509.5:c.3359-4866A>G	ENSP00000454158.1:n.3359-4866A>G
NM_000057.3:c.3663A>G	NP_000048.1:p.Glu1221=
NM_001287246.1:c.3663A>G	NP_001274175.1:p.Glu1221=
NM_001287247.1:c.3359-4866A>G	NP_001274176.1:n.3359-4866A>G
NM_001287248.1:c.2538A>G	NP_001274177.1:p.Glu846=
XM_006720632.2:c.1701A>G	XP_006720695.1:p.Glu567=
XM_011521881.1:c.2349A>G	XP_011520183.1:p.Glu783=
XM_011521881.2:c.2349A>G	XP_011520183.1:p.Glu783=
NM_000057.4:c.3663A>G MANE Select	NP_000048.1:p.Glu1221=
NM_001287246.2:c.3663A>G	NP_001274175.1:p.Glu1221=
NM_001287247.2:c.3359-4866A>G	NP_001274176.1:n.3359-4866A>G
NM_001287248.2:c.2538A>G	NP_001274177.1:p.Glu846=