Canonical Allele Identifier: CA393850936

Gene: BLM

Linked Data

• ClinVar Variation Id: 1736568
• ClinVar RCV Id: RCV002357705 ; RCV003325603
• dbSNP Id: rs1439192800
• gnomAD v2: 15-91354527-T-C
• gnomAD v4: 15-90811297-T-C
• MyVariant Identifiers: chr15:g.91354527T>C (hg19) ; chr15:g.90811297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811297T>C , CM000677.2:g.90811297T>C	GRCh38
NC_000015.9:g.91354527T>C , CM000677.1:g.91354527T>C	GRCh37
NC_000015.8:g.89155531T>C	NCBI36
NG_007272.1:g.98926T>C , LRG_20:g.98926T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3967T>C MANE Select	ENSP00000347232.3:p.Ser1323Pro
ENST00000560559.2:n.2540T>C
ENST00000648453.1:c.3967T>C	ENSP00000497646.1:p.Ser1323Pro
ENST00000680772.1:c.3967T>C	ENSP00000506117.1:p.Ser1323Pro
ENST00000681142.1:c.3967T>C	ENSP00000506682.1:p.Ser1323Pro
ENST00000355112.7:c.3967T>C	ENSP00000347232.3:p.Ser1323Pro
ENST00000558825.5:n.1314T>C
ENST00000559724.5:c.*2891T>C	ENSP00000453359.1:n.*2891T>C
ENST00000560136.5:n.1993T>C
ENST00000560509.5:c.3574T>C	ENSP00000454158.1:p.Ser1192Pro
ENST00000560821.1:n.387T>C
NM_000057.3:c.3967T>C	NP_000048.1:p.Ser1323Pro
NM_001287246.1:c.3967T>C	NP_001274175.1:p.Ser1323Pro
NM_001287247.1:c.3574T>C	NP_001274176.1:p.Ser1192Pro
NM_001287248.1:c.2842T>C	NP_001274177.1:p.Ser948Pro
XM_006720632.2:c.2005T>C	XP_006720695.1:p.Ser669Pro
XM_011521881.1:c.2653T>C	XP_011520183.1:p.Ser885Pro
XM_011521881.2:c.2653T>C	XP_011520183.1:p.Ser885Pro
NM_000057.4:c.3967T>C MANE Select	NP_000048.1:p.Ser1323Pro
NM_001287246.2:c.3967T>C	NP_001274175.1:p.Ser1323Pro
NM_001287247.2:c.3574T>C	NP_001274176.1:p.Ser1192Pro
NM_001287248.2:c.2842T>C	NP_001274177.1:p.Ser948Pro