Canonical Allele Identifier: CA393844772

Gene: BLM

Linked Data

• gnomAD v4: 15-90766913-C-A
• MyVariant Identifiers: chr15:g.91310143C>A (hg19) ; chr15:g.90766913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766913C>A , CM000677.2:g.90766913C>A	GRCh38
NC_000015.9:g.91310143C>A , CM000677.1:g.91310143C>A	GRCh37
NC_000015.8:g.89111147C>A	NCBI36
NG_007272.1:g.54542C>A , LRG_20:g.54542C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2197C>A MANE Select	ENSP00000347232.3:p.Pro733Thr
ENST00000648453.1:c.2197C>A	ENSP00000497646.1:p.Pro733Thr
ENST00000680772.1:c.2197C>A	ENSP00000506117.1:p.Pro733Thr
ENST00000681142.1:c.2197C>A	ENSP00000506682.1:p.Pro733Thr
ENST00000355112.7:c.2197C>A	ENSP00000347232.3:p.Pro733Thr
ENST00000559426.5:n.374C>A
ENST00000559724.5:c.*1121C>A	ENSP00000453359.1:n.*1121C>A
ENST00000560136.5:n.223C>A
ENST00000560509.5:c.2197C>A	ENSP00000454158.1:p.Pro733Thr
NM_000057.3:c.2197C>A	NP_000048.1:p.Pro733Thr
NM_001287246.1:c.2197C>A	NP_001274175.1:p.Pro733Thr
NM_001287247.1:c.2197C>A	NP_001274176.1:p.Pro733Thr
NM_001287248.1:c.1072C>A	NP_001274177.1:p.Pro358Thr
XM_006720632.2:c.235C>A	XP_006720695.1:p.Pro79Thr
XM_011521881.1:c.883C>A	XP_011520183.1:p.Pro295Thr
XM_011521882.1:c.2197C>A	XP_011520184.1:p.Pro733Thr
XM_011521881.2:c.883C>A	XP_011520183.1:p.Pro295Thr
XM_011521882.3:c.2197C>A	XP_011520184.1:p.Pro733Thr
NM_000057.4:c.2197C>A MANE Select	NP_000048.1:p.Pro733Thr
NM_001287246.2:c.2197C>A	NP_001274175.1:p.Pro733Thr
NM_001287247.2:c.2197C>A	NP_001274176.1:p.Pro733Thr
NM_001287248.2:c.1072C>A	NP_001274177.1:p.Pro358Thr