Canonical Allele Identifier: CA393851550

Gene: BLM

Linked Data

• dbSNP Id: rs945181516
• MyVariant Identifiers: chr15:g.91354627A>T (hg19) ; chr15:g.90811397A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811397A>T , CM000677.2:g.90811397A>T	GRCh38
NC_000015.9:g.91354627A>T , CM000677.1:g.91354627A>T	GRCh37
NC_000015.8:g.89155631A>T	NCBI36
NG_007272.1:g.99026A>T , LRG_20:g.99026A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4067A>T MANE Select	ENSP00000347232.3:p.Lys1356Met
ENST00000560559.2:n.2640A>T
ENST00000648453.1:c.4067A>T	ENSP00000497646.1:p.Lys1356Met
ENST00000680772.1:c.4067A>T	ENSP00000506117.1:p.Lys1356Met
ENST00000681142.1:c.4067A>T	ENSP00000506682.1:p.Lys1356Met
ENST00000355112.7:c.4067A>T	ENSP00000347232.3:p.Lys1356Met
ENST00000558825.5:n.1414A>T
ENST00000559724.5:c.*2991A>T	ENSP00000453359.1:n.*2991A>T
ENST00000560509.5:c.3674A>T	ENSP00000454158.1:p.Lys1225Met
ENST00000560821.1:n.487A>T
NM_000057.3:c.4067A>T	NP_000048.1:p.Lys1356Met
NM_001287246.1:c.4067A>T	NP_001274175.1:p.Lys1356Met
NM_001287247.1:c.3674A>T	NP_001274176.1:p.Lys1225Met
NM_001287248.1:c.2942A>T	NP_001274177.1:p.Lys981Met
XM_006720632.2:c.2105A>T	XP_006720695.1:p.Lys702Met
XM_011521881.1:c.2753A>T	XP_011520183.1:p.Lys918Met
XM_011521881.2:c.2753A>T	XP_011520183.1:p.Lys918Met
NM_000057.4:c.4067A>T MANE Select	NP_000048.1:p.Lys1356Met
NM_001287246.2:c.4067A>T	NP_001274175.1:p.Lys1356Met
NM_001287247.2:c.3674A>T	NP_001274176.1:p.Lys1225Met
NM_001287248.2:c.2942A>T	NP_001274177.1:p.Lys981Met