Canonical Allele Identifier: CA393844799

Gene: BLM

Linked Data

• gnomAD v4: 15-90766928-A-T
• MyVariant Identifiers: chr15:g.91310158A>T (hg19) ; chr15:g.90766928A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766928A>T , CM000677.2:g.90766928A>T	GRCh38
NC_000015.9:g.91310158A>T , CM000677.1:g.91310158A>T	GRCh37
NC_000015.8:g.89111162A>T	NCBI36
NG_007272.1:g.54557A>T , LRG_20:g.54557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2212A>T MANE Select	ENSP00000347232.3:p.Thr738Ser
ENST00000648453.1:c.2212A>T	ENSP00000497646.1:p.Thr738Ser
ENST00000680772.1:c.2212A>T	ENSP00000506117.1:p.Thr738Ser
ENST00000681142.1:c.2212A>T	ENSP00000506682.1:p.Thr738Ser
ENST00000355112.7:c.2212A>T	ENSP00000347232.3:p.Thr738Ser
ENST00000559426.5:n.389A>T
ENST00000559724.5:c.*1136A>T	ENSP00000453359.1:n.*1136A>T
ENST00000560136.5:n.238A>T
ENST00000560509.5:c.2212A>T	ENSP00000454158.1:p.Thr738Ser
NM_000057.3:c.2212A>T	NP_000048.1:p.Thr738Ser
NM_001287246.1:c.2212A>T	NP_001274175.1:p.Thr738Ser
NM_001287247.1:c.2212A>T	NP_001274176.1:p.Thr738Ser
NM_001287248.1:c.1087A>T	NP_001274177.1:p.Thr363Ser
XM_006720632.2:c.250A>T	XP_006720695.1:p.Thr84Ser
XM_011521881.1:c.898A>T	XP_011520183.1:p.Thr300Ser
XM_011521882.1:c.2212A>T	XP_011520184.1:p.Thr738Ser
XM_011521881.2:c.898A>T	XP_011520183.1:p.Thr300Ser
XM_011521882.3:c.2212A>T	XP_011520184.1:p.Thr738Ser
NM_000057.4:c.2212A>T MANE Select	NP_000048.1:p.Thr738Ser
NM_001287246.2:c.2212A>T	NP_001274175.1:p.Thr738Ser
NM_001287247.2:c.2212A>T	NP_001274176.1:p.Thr738Ser
NM_001287248.2:c.1087A>T	NP_001274177.1:p.Thr363Ser