Canonical Allele Identifier: CA7739091

Gene: BLM

Linked Data

• ClinVar Variation Id: 236816
• ClinVar RCV Id: RCV000233102
• dbSNP Id: rs747293738
• ExAC: 15:91347567 C / T
• gnomAD v2: 15-91347567-C-T
• gnomAD v3: 15-90804337-C-T
• gnomAD v4: 15-90804337-C-T
• MyVariant Identifiers: chr15:g.91347567C>T (hg19) ; chr15:g.90804337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804337C>T , CM000677.2:g.90804337C>T	GRCh38
NC_000015.9:g.91347567C>T , CM000677.1:g.91347567C>T	GRCh37
NC_000015.8:g.89148571C>T	NCBI36
NG_007272.1:g.91966C>T , LRG_20:g.91966C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3729C>T MANE Select	ENSP00000347232.3:p.Thr1243=
ENST00000560559.2:n.2302C>T
ENST00000648453.1:c.3729C>T	ENSP00000497646.1:p.Thr1243=
ENST00000680772.1:c.3729C>T	ENSP00000506117.1:p.Thr1243=
ENST00000681142.1:c.3729C>T	ENSP00000506682.1:p.Thr1243=
ENST00000355112.7:c.3729C>T	ENSP00000347232.3:p.Thr1243=
ENST00000558825.5:n.1076C>T
ENST00000559724.5:c.*2653C>T	ENSP00000453359.1:n.*2653C>T
ENST00000560136.5:n.1755C>T
ENST00000560509.5:c.3359-4800C>T	ENSP00000454158.1:n.3359-4800C>T
NM_000057.3:c.3729C>T	NP_000048.1:p.Thr1243=
NM_001287246.1:c.3729C>T	NP_001274175.1:p.Thr1243=
NM_001287247.1:c.3359-4800C>T	NP_001274176.1:n.3359-4800C>T
NM_001287248.1:c.2604C>T	NP_001274177.1:p.Thr868=
XM_006720632.2:c.1767C>T	XP_006720695.1:p.Thr589=
XM_011521881.1:c.2415C>T	XP_011520183.1:p.Thr805=
XM_011521881.2:c.2415C>T	XP_011520183.1:p.Thr805=
NM_000057.4:c.3729C>T MANE Select	NP_000048.1:p.Thr1243=
NM_001287246.2:c.3729C>T	NP_001274175.1:p.Thr1243=
NM_001287247.2:c.3359-4800C>T	NP_001274176.1:n.3359-4800C>T
NM_001287248.2:c.2604C>T	NP_001274177.1:p.Thr868=