Canonical Allele Identifier: CA492301133

Gene: BLM

Linked Data

• ClinVar Variation Id: 1965666
• ClinVar RCV Id: RCV002711269 ; RCV003348901
• gnomAD v4: 15-90749712-A-G
• MyVariant Identifiers: chr15:g.91292942A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749712A>G , CM000677.2:g.90749712A>G	GRCh38
NC_000015.9:g.91292942A>G , CM000677.1:g.91292942A>G	GRCh37
NC_000015.8:g.89093946A>G	NCBI36
NG_007272.1:g.37341A>G , LRG_20:g.37341A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.444A>G MANE Select	ENSP00000347232.3:p.Leu148=
ENST00000648453.1:c.444A>G	ENSP00000497646.1:p.Leu148=
ENST00000680772.1:c.444A>G	ENSP00000506117.1:p.Leu148=
ENST00000681142.1:c.444A>G	ENSP00000506682.1:p.Leu148=
ENST00000355112.7:c.444A>G	ENSP00000347232.3:p.Leu148=
ENST00000559282.1:n.618A>G
ENST00000559724.5:c.444A>G	ENSP00000453359.1:p.Leu148=
ENST00000560509.5:c.444A>G	ENSP00000454158.1:p.Leu148=
NM_000057.3:c.444A>G	NP_000048.1:p.Leu148=
NM_001287246.1:c.444A>G	NP_001274175.1:p.Leu148=
NM_001287247.1:c.444A>G	NP_001274176.1:p.Leu148=
NM_001287248.1:c.-848A>G	NP_001274177.1:n.-848A>G
XM_011521882.1:c.444A>G	XP_011520184.1:p.Leu148=
XM_011521882.3:c.444A>G	XP_011520184.1:p.Leu148=
NM_000057.4:c.444A>G MANE Select	NP_000048.1:p.Leu148=
NM_001287246.2:c.444A>G	NP_001274175.1:p.Leu148=
NM_001287247.2:c.444A>G	NP_001274176.1:p.Leu148=
NM_001287248.2:c.-848A>G	NP_001274177.1:n.-848A>G