Canonical Allele Identifier: CA393851099

Gene: BLM

Linked Data

• ClinVar Variation Id: 2141724
• ClinVar RCV Id: RCV003060439 ; RCV004070252
• MyVariant Identifiers: chr15:g.91354553A>C (hg19) ; chr15:g.90811323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811323A>C , CM000677.2:g.90811323A>C	GRCh38
NC_000015.9:g.91354553A>C , CM000677.1:g.91354553A>C	GRCh37
NC_000015.8:g.89155557A>C	NCBI36
NG_007272.1:g.98952A>C , LRG_20:g.98952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3993A>C MANE Select	ENSP00000347232.3:p.Arg1331Ser
ENST00000560559.2:n.2566A>C
ENST00000648453.1:c.3993A>C	ENSP00000497646.1:p.Arg1331Ser
ENST00000680772.1:c.3993A>C	ENSP00000506117.1:p.Arg1331Ser
ENST00000681142.1:c.3993A>C	ENSP00000506682.1:p.Arg1331Ser
ENST00000355112.7:c.3993A>C	ENSP00000347232.3:p.Arg1331Ser
ENST00000558825.5:n.1340A>C
ENST00000559724.5:c.*2917A>C	ENSP00000453359.1:n.*2917A>C
ENST00000560136.5:n.2019A>C
ENST00000560509.5:c.3600A>C	ENSP00000454158.1:p.Arg1200Ser
ENST00000560821.1:n.413A>C
NM_000057.3:c.3993A>C	NP_000048.1:p.Arg1331Ser
NM_001287246.1:c.3993A>C	NP_001274175.1:p.Arg1331Ser
NM_001287247.1:c.3600A>C	NP_001274176.1:p.Arg1200Ser
NM_001287248.1:c.2868A>C	NP_001274177.1:p.Arg956Ser
XM_006720632.2:c.2031A>C	XP_006720695.1:p.Arg677Ser
XM_011521881.1:c.2679A>C	XP_011520183.1:p.Arg893Ser
XM_011521881.2:c.2679A>C	XP_011520183.1:p.Arg893Ser
NM_000057.4:c.3993A>C MANE Select	NP_000048.1:p.Arg1331Ser
NM_001287246.2:c.3993A>C	NP_001274175.1:p.Arg1331Ser
NM_001287247.2:c.3600A>C	NP_001274176.1:p.Arg1200Ser
NM_001287248.2:c.2868A>C	NP_001274177.1:p.Arg956Ser