Canonical Allele Identifier: CA393851088

Gene: BLM

Linked Data

• ClinVar Variation Id: 1960947
• ClinVar RCV Id: RCV002706733
• MyVariant Identifiers: chr15:g.91354551A>T (hg19) ; chr15:g.90811321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811321A>T , CM000677.2:g.90811321A>T	GRCh38
NC_000015.9:g.91354551A>T , CM000677.1:g.91354551A>T	GRCh37
NC_000015.8:g.89155555A>T	NCBI36
NG_007272.1:g.98950A>T , LRG_20:g.98950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3991A>T MANE Select	ENSP00000347232.3:p.Arg1331Ter
ENST00000560559.2:n.2564A>T
ENST00000648453.1:c.3991A>T	ENSP00000497646.1:p.Arg1331Ter
ENST00000680772.1:c.3991A>T	ENSP00000506117.1:p.Arg1331Ter
ENST00000681142.1:c.3991A>T	ENSP00000506682.1:p.Arg1331Ter
ENST00000355112.7:c.3991A>T	ENSP00000347232.3:p.Arg1331Ter
ENST00000558825.5:n.1338A>T
ENST00000559724.5:c.*2915A>T	ENSP00000453359.1:n.*2915A>T
ENST00000560136.5:n.2017A>T
ENST00000560509.5:c.3598A>T	ENSP00000454158.1:p.Arg1200Ter
ENST00000560821.1:n.411A>T
NM_000057.3:c.3991A>T	NP_000048.1:p.Arg1331Ter
NM_001287246.1:c.3991A>T	NP_001274175.1:p.Arg1331Ter
NM_001287247.1:c.3598A>T	NP_001274176.1:p.Arg1200Ter
NM_001287248.1:c.2866A>T	NP_001274177.1:p.Arg956Ter
XM_006720632.2:c.2029A>T	XP_006720695.1:p.Arg677Ter
XM_011521881.1:c.2677A>T	XP_011520183.1:p.Arg893Ter
XM_011521881.2:c.2677A>T	XP_011520183.1:p.Arg893Ter
NM_000057.4:c.3991A>T MANE Select	NP_000048.1:p.Arg1331Ter
NM_001287246.2:c.3991A>T	NP_001274175.1:p.Arg1331Ter
NM_001287247.2:c.3598A>T	NP_001274176.1:p.Arg1200Ter
NM_001287248.2:c.2866A>T	NP_001274177.1:p.Arg956Ter