Canonical Allele Identifier: CA393839514

Gene: BLM

Linked Data

• ClinVar Variation Id: 3223956
• ClinVar RCV Id: RCV004516720
• dbSNP Id: rs2151146756
• COSMIC: COSM5571614
• MyVariant Identifiers: chr15:g.91292658G>A (hg19) ; chr15:g.90749428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749428G>A , CM000677.2:g.90749428G>A	GRCh38
NC_000015.9:g.91292658G>A , CM000677.1:g.91292658G>A	GRCh37
NC_000015.8:g.89093662G>A	NCBI36
NG_007272.1:g.37057G>A , LRG_20:g.37057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.160G>A MANE Select	ENSP00000347232.3:p.Val54Ile
ENST00000648453.1:c.160G>A	ENSP00000497646.1:p.Val54Ile
ENST00000680772.1:c.160G>A	ENSP00000506117.1:p.Val54Ile
ENST00000681142.1:c.160G>A	ENSP00000506682.1:p.Val54Ile
ENST00000355112.7:c.160G>A	ENSP00000347232.3:p.Val54Ile
ENST00000559282.1:n.334G>A
ENST00000559724.5:c.160G>A	ENSP00000453359.1:p.Val54Ile
ENST00000560509.5:c.160G>A	ENSP00000454158.1:p.Val54Ile
NM_000057.3:c.160G>A	NP_000048.1:p.Val54Ile
NM_001287246.1:c.160G>A	NP_001274175.1:p.Val54Ile
NM_001287247.1:c.160G>A	NP_001274176.1:p.Val54Ile
NM_001287248.1:c.-1132G>A	NP_001274177.1:n.-1132G>A
XM_011521882.1:c.160G>A	XP_011520184.1:p.Val54Ile
XM_011521882.3:c.160G>A	XP_011520184.1:p.Val54Ile
NM_000057.4:c.160G>A MANE Select	NP_000048.1:p.Val54Ile
NM_001287246.2:c.160G>A	NP_001274175.1:p.Val54Ile
NM_001287247.2:c.160G>A	NP_001274176.1:p.Val54Ile
NM_001287248.2:c.-1132G>A	NP_001274177.1:n.-1132G>A