Canonical Allele Identifier: CA492157894

Gene: BLM

Linked Data

• gnomAD v4: 15-90811386-C-A
• MyVariant Identifiers: chr15:g.91354616C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811386C>A , CM000677.2:g.90811386C>A	GRCh38
NC_000015.9:g.91354616C>A , CM000677.1:g.91354616C>A	GRCh37
NC_000015.8:g.89155620C>A	NCBI36
NG_007272.1:g.99015C>A , LRG_20:g.99015C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4056C>A MANE Select	ENSP00000347232.3:p.Ser1352=
ENST00000560559.2:n.2629C>A
ENST00000648453.1:c.4056C>A	ENSP00000497646.1:p.Ser1352=
ENST00000680772.1:c.4056C>A	ENSP00000506117.1:p.Ser1352=
ENST00000681142.1:c.4056C>A	ENSP00000506682.1:p.Ser1352=
ENST00000355112.7:c.4056C>A	ENSP00000347232.3:p.Ser1352=
ENST00000558825.5:n.1403C>A
ENST00000559724.5:c.*2980C>A	ENSP00000453359.1:n.*2980C>A
ENST00000560509.5:c.3663C>A	ENSP00000454158.1:p.Ser1221=
ENST00000560821.1:n.476C>A
NM_000057.3:c.4056C>A	NP_000048.1:p.Ser1352=
NM_001287246.1:c.4056C>A	NP_001274175.1:p.Ser1352=
NM_001287247.1:c.3663C>A	NP_001274176.1:p.Ser1221=
NM_001287248.1:c.2931C>A	NP_001274177.1:p.Ser977=
XM_006720632.2:c.2094C>A	XP_006720695.1:p.Ser698=
XM_011521881.1:c.2742C>A	XP_011520183.1:p.Ser914=
XM_011521881.2:c.2742C>A	XP_011520183.1:p.Ser914=
NM_000057.4:c.4056C>A MANE Select	NP_000048.1:p.Ser1352=
NM_001287246.2:c.4056C>A	NP_001274175.1:p.Ser1352=
NM_001287247.2:c.3663C>A	NP_001274176.1:p.Ser1221=
NM_001287248.2:c.2931C>A	NP_001274177.1:p.Ser977=