Canonical Allele Identifier: CA393851095

Gene: BLM

Linked Data

• ClinVar Variation Id: 2197784
• ClinVar RCV Id: RCV002640249
• MyVariant Identifiers: chr15:g.91354552G>C (hg19) ; chr15:g.90811322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811322G>C , CM000677.2:g.90811322G>C	GRCh38
NC_000015.9:g.91354552G>C , CM000677.1:g.91354552G>C	GRCh37
NC_000015.8:g.89155556G>C	NCBI36
NG_007272.1:g.98951G>C , LRG_20:g.98951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3992G>C MANE Select	ENSP00000347232.3:p.Arg1331Thr
ENST00000560559.2:n.2565G>C
ENST00000648453.1:c.3992G>C	ENSP00000497646.1:p.Arg1331Thr
ENST00000680772.1:c.3992G>C	ENSP00000506117.1:p.Arg1331Thr
ENST00000681142.1:c.3992G>C	ENSP00000506682.1:p.Arg1331Thr
ENST00000355112.7:c.3992G>C	ENSP00000347232.3:p.Arg1331Thr
ENST00000558825.5:n.1339G>C
ENST00000559724.5:c.*2916G>C	ENSP00000453359.1:n.*2916G>C
ENST00000560136.5:n.2018G>C
ENST00000560509.5:c.3599G>C	ENSP00000454158.1:p.Arg1200Thr
ENST00000560821.1:n.412G>C
NM_000057.3:c.3992G>C	NP_000048.1:p.Arg1331Thr
NM_001287246.1:c.3992G>C	NP_001274175.1:p.Arg1331Thr
NM_001287247.1:c.3599G>C	NP_001274176.1:p.Arg1200Thr
NM_001287248.1:c.2867G>C	NP_001274177.1:p.Arg956Thr
XM_006720632.2:c.2030G>C	XP_006720695.1:p.Arg677Thr
XM_011521881.1:c.2678G>C	XP_011520183.1:p.Arg893Thr
XM_011521881.2:c.2678G>C	XP_011520183.1:p.Arg893Thr
NM_000057.4:c.3992G>C MANE Select	NP_000048.1:p.Arg1331Thr
NM_001287246.2:c.3992G>C	NP_001274175.1:p.Arg1331Thr
NM_001287247.2:c.3599G>C	NP_001274176.1:p.Arg1200Thr
NM_001287248.2:c.2867G>C	NP_001274177.1:p.Arg956Thr