Canonical Allele Identifier: CA7738831

Gene: BLM

Linked Data

• ClinVar Variation Id: 405297
• ClinVar RCV Id: RCV000469889 ; RCV000570597 ; RCV003105908
• dbSNP Id: rs146723808
• ExAC: 15:91326115 G / C
• gnomAD v2: 15-91326115-G-C
• gnomAD v3: 15-90782885-G-C
• gnomAD v4: 15-90782885-G-C
• MyVariant Identifiers: chr15:g.91326115G>C (hg19) ; chr15:g.90782885G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90782885G>C , CM000677.2:g.90782885G>C	GRCh38
NC_000015.9:g.91326115G>C , CM000677.1:g.91326115G>C	GRCh37
NC_000015.8:g.89127119G>C	NCBI36
NG_007272.1:g.70514G>C , LRG_20:g.70514G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2619G>C MANE Select	ENSP00000347232.3:p.Lys873Asn
ENST00000648453.1:c.2619G>C	ENSP00000497646.1:p.Lys873Asn
ENST00000680772.1:c.2619G>C	ENSP00000506117.1:p.Lys873Asn
ENST00000681142.1:c.2619G>C	ENSP00000506682.1:p.Lys873Asn
ENST00000355112.7:c.2619G>C	ENSP00000347232.3:p.Lys873Asn
ENST00000559724.5:c.*1543G>C	ENSP00000453359.1:n.*1543G>C
ENST00000560136.5:n.645G>C
ENST00000560509.5:c.2619G>C	ENSP00000454158.1:p.Lys873Asn
NM_000057.3:c.2619G>C	NP_000048.1:p.Lys873Asn
NM_001287246.1:c.2619G>C	NP_001274175.1:p.Lys873Asn
NM_001287247.1:c.2619G>C	NP_001274176.1:p.Lys873Asn
NM_001287248.1:c.1494G>C	NP_001274177.1:p.Lys498Asn
XM_006720632.2:c.657G>C	XP_006720695.1:p.Lys219Asn
XM_011521881.1:c.1305G>C	XP_011520183.1:p.Lys435Asn
XM_011521881.2:c.1305G>C	XP_011520183.1:p.Lys435Asn
NM_000057.4:c.2619G>C MANE Select	NP_000048.1:p.Lys873Asn
NM_001287246.2:c.2619G>C	NP_001274175.1:p.Lys873Asn
NM_001287247.2:c.2619G>C	NP_001274176.1:p.Lys873Asn
NM_001287248.2:c.1494G>C	NP_001274177.1:p.Lys498Asn