Canonical Allele Identifier: CA393851409

Gene: BLM

Linked Data

• ClinVar Variation Id: 824529
• ClinVar RCV Id: RCV001021729 ; RCV003614075
• dbSNP Id: rs1596273711
• MyVariant Identifiers: chr15:g.91354599A>G (hg19) ; chr15:g.90811369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811369A>G , CM000677.2:g.90811369A>G	GRCh38
NC_000015.9:g.91354599A>G , CM000677.1:g.91354599A>G	GRCh37
NC_000015.8:g.89155603A>G	NCBI36
NG_007272.1:g.98998A>G , LRG_20:g.98998A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4039A>G MANE Select	ENSP00000347232.3:p.Arg1347Gly
ENST00000560559.2:n.2612A>G
ENST00000648453.1:c.4039A>G	ENSP00000497646.1:p.Arg1347Gly
ENST00000680772.1:c.4039A>G	ENSP00000506117.1:p.Arg1347Gly
ENST00000681142.1:c.4039A>G	ENSP00000506682.1:p.Arg1347Gly
ENST00000355112.7:c.4039A>G	ENSP00000347232.3:p.Arg1347Gly
ENST00000558825.5:n.1386A>G
ENST00000559724.5:c.*2963A>G	ENSP00000453359.1:n.*2963A>G
ENST00000560509.5:c.3646A>G	ENSP00000454158.1:p.Arg1216Gly
ENST00000560821.1:n.459A>G
NM_000057.3:c.4039A>G	NP_000048.1:p.Arg1347Gly
NM_001287246.1:c.4039A>G	NP_001274175.1:p.Arg1347Gly
NM_001287247.1:c.3646A>G	NP_001274176.1:p.Arg1216Gly
NM_001287248.1:c.2914A>G	NP_001274177.1:p.Arg972Gly
XM_006720632.2:c.2077A>G	XP_006720695.1:p.Arg693Gly
XM_011521881.1:c.2725A>G	XP_011520183.1:p.Arg909Gly
XM_011521881.2:c.2725A>G	XP_011520183.1:p.Arg909Gly
NM_000057.4:c.4039A>G MANE Select	NP_000048.1:p.Arg1347Gly
NM_001287246.2:c.4039A>G	NP_001274175.1:p.Arg1347Gly
NM_001287247.2:c.3646A>G	NP_001274176.1:p.Arg1216Gly
NM_001287248.2:c.2914A>G	NP_001274177.1:p.Arg972Gly