Canonical Allele Identifier: CA393840011

Gene: BLM

Linked Data

• ClinVar Variation Id: 1793361
• ClinVar RCV Id: RCV002426059
• dbSNP Id: rs2151146965
• MyVariant Identifiers: chr15:g.91292755T>A (hg19) ; chr15:g.90749525T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749525T>A , CM000677.2:g.90749525T>A	GRCh38
NC_000015.9:g.91292755T>A , CM000677.1:g.91292755T>A	GRCh37
NC_000015.8:g.89093759T>A	NCBI36
NG_007272.1:g.37154T>A , LRG_20:g.37154T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.257T>A MANE Select	ENSP00000347232.3:p.Val86Asp
ENST00000648453.1:c.257T>A	ENSP00000497646.1:p.Val86Asp
ENST00000680772.1:c.257T>A	ENSP00000506117.1:p.Val86Asp
ENST00000681142.1:c.257T>A	ENSP00000506682.1:p.Val86Asp
ENST00000355112.7:c.257T>A	ENSP00000347232.3:p.Val86Asp
ENST00000559282.1:n.431T>A
ENST00000559724.5:c.257T>A	ENSP00000453359.1:p.Val86Asp
ENST00000560509.5:c.257T>A	ENSP00000454158.1:p.Val86Asp
NM_000057.3:c.257T>A	NP_000048.1:p.Val86Asp
NM_001287246.1:c.257T>A	NP_001274175.1:p.Val86Asp
NM_001287247.1:c.257T>A	NP_001274176.1:p.Val86Asp
NM_001287248.1:c.-1035T>A	NP_001274177.1:n.-1035T>A
XM_011521882.1:c.257T>A	XP_011520184.1:p.Val86Asp
XM_011521882.3:c.257T>A	XP_011520184.1:p.Val86Asp
NM_000057.4:c.257T>A MANE Select	NP_000048.1:p.Val86Asp
NM_001287246.2:c.257T>A	NP_001274175.1:p.Val86Asp
NM_001287247.2:c.257T>A	NP_001274176.1:p.Val86Asp
NM_001287248.2:c.-1035T>A	NP_001274177.1:n.-1035T>A