Canonical Allele Identifier: CA090891

Gene: BLM

Linked Data

• ClinVar Variation Id: 92393
• ClinVar RCV Id: RCV000078058 ; RCV000144575 ; RCV000568944 ; RCV000586013 ; RCV001824121
• dbSNP Id: rs2227935
• ExAC: 15:91326099 C / T
• gnomAD v2: 15-91326099-C-T
• gnomAD v3: 15-90782869-C-T
• gnomAD v4: 15-90782869-C-T
• MyVariant Identifiers: chr15:g.91326099C>T (hg19) ; chr15:g.90782869C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)
• PubMed: PMID:16501249 ; PMID:19945966 ; PMID:23129629 ; PMID:24728327 ; PMID:26788541

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90782869C>T , CM000677.2:g.90782869C>T	GRCh38
NC_000015.9:g.91326099C>T , CM000677.1:g.91326099C>T	GRCh37
NC_000015.8:g.89127103C>T	NCBI36
NG_007272.1:g.70498C>T , LRG_20:g.70498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2603C>T MANE Select	ENSP00000347232.3:p.Pro868Leu
ENST00000648453.1:c.2603C>T	ENSP00000497646.1:p.Pro868Leu
ENST00000680772.1:c.2603C>T	ENSP00000506117.1:p.Pro868Leu
ENST00000681142.1:c.2603C>T	ENSP00000506682.1:p.Pro868Leu
ENST00000355112.7:c.2603C>T	ENSP00000347232.3:p.Pro868Leu
ENST00000559724.5:c.*1527C>T	ENSP00000453359.1:n.*1527C>T
ENST00000560136.5:n.629C>T
ENST00000560509.5:c.2603C>T	ENSP00000454158.1:p.Pro868Leu
NM_000057.3:c.2603C>T	NP_000048.1:p.Pro868Leu
NM_001287246.1:c.2603C>T	NP_001274175.1:p.Pro868Leu
NM_001287247.1:c.2603C>T	NP_001274176.1:p.Pro868Leu
NM_001287248.1:c.1478C>T	NP_001274177.1:p.Pro493Leu
XM_006720632.2:c.641C>T	XP_006720695.1:p.Pro214Leu
XM_011521881.1:c.1289C>T	XP_011520183.1:p.Pro430Leu
XM_011521881.2:c.1289C>T	XP_011520183.1:p.Pro430Leu
NM_000057.4:c.2603C>T MANE Select	NP_000048.1:p.Pro868Leu
NM_001287246.2:c.2603C>T	NP_001274175.1:p.Pro868Leu
NM_001287247.2:c.2603C>T	NP_001274176.1:p.Pro868Leu
NM_001287248.2:c.1478C>T	NP_001274177.1:p.Pro493Leu