Canonical Allele Identifier: CA7738898

Gene: BLM

Linked Data

• ClinVar Variation Id: 2072432
• ClinVar RCV Id: RCV002962911
• dbSNP Id: rs780890722
• ExAC: 15:91333981 G / T
• gnomAD v2: 15-91333981-G-T
• MyVariant Identifiers: chr15:g.91333981G>T (hg19) ; chr15:g.90790751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790751G>T , CM000677.2:g.90790751G>T	GRCh38
NC_000015.9:g.91333981G>T , CM000677.1:g.91333981G>T	GRCh37
NC_000015.8:g.89134985G>T	NCBI36
NG_007272.1:g.78380G>T , LRG_20:g.78380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2926G>T MANE Select	ENSP00000347232.3:p.Glu976Ter
ENST00000560559.2:n.1499G>T
ENST00000648453.1:c.2926G>T	ENSP00000497646.1:p.Glu976Ter
ENST00000680772.1:c.2926G>T	ENSP00000506117.1:p.Glu976Ter
ENST00000681142.1:c.2926G>T	ENSP00000506682.1:p.Glu976Ter
ENST00000355112.7:c.2926G>T	ENSP00000347232.3:p.Glu976Ter
ENST00000559724.5:c.*1850G>T	ENSP00000453359.1:n.*1850G>T
ENST00000560136.5:n.952G>T
ENST00000560509.5:c.2926G>T	ENSP00000454158.1:p.Glu976Ter
ENST00000560559.1:n.463G>T
NM_000057.3:c.2926G>T	NP_000048.1:p.Glu976Ter
NM_001287246.1:c.2926G>T	NP_001274175.1:p.Glu976Ter
NM_001287247.1:c.2926G>T	NP_001274176.1:p.Glu976Ter
NM_001287248.1:c.1801G>T	NP_001274177.1:p.Glu601Ter
XM_006720632.2:c.964G>T	XP_006720695.1:p.Glu322Ter
XM_011521881.1:c.1612G>T	XP_011520183.1:p.Glu538Ter
XM_011521881.2:c.1612G>T	XP_011520183.1:p.Glu538Ter
NM_000057.4:c.2926G>T MANE Select	NP_000048.1:p.Glu976Ter
NM_001287246.2:c.2926G>T	NP_001274175.1:p.Glu976Ter
NM_001287247.2:c.2926G>T	NP_001274176.1:p.Glu976Ter
NM_001287248.2:c.1801G>T	NP_001274177.1:p.Glu601Ter