Canonical Allele Identifier: CA492157930

Gene: BLM

Linked Data

• ClinVar Variation Id: 1099225
• ClinVar RCV Id: RCV001421425
• dbSNP Id: rs2151152140
• MyVariant Identifiers: chr15:g.91298074A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754844A>G , CM000677.2:g.90754844A>G	GRCh38
NC_000015.9:g.91298074A>G , CM000677.1:g.91298074A>G	GRCh37
NC_000015.8:g.89099078A>G	NCBI36
NG_007272.1:g.42473A>G , LRG_20:g.42473A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.993A>G MANE Select	ENSP00000347232.3:p.Lys331=
ENST00000648453.1:c.993A>G	ENSP00000497646.1:p.Lys331=
ENST00000680772.1:c.993A>G	ENSP00000506117.1:p.Lys331=
ENST00000681142.1:c.993A>G	ENSP00000506682.1:p.Lys331=
ENST00000355112.7:c.993A>G	ENSP00000347232.3:p.Lys331=
ENST00000558599.1:n.254A>G
ENST00000559724.5:c.993A>G	ENSP00000453359.1:p.Lys331=
ENST00000560509.5:c.993A>G	ENSP00000454158.1:p.Lys331=
NM_000057.3:c.993A>G	NP_000048.1:p.Lys331=
NM_001287246.1:c.993A>G	NP_001274175.1:p.Lys331=
NM_001287247.1:c.993A>G	NP_001274176.1:p.Lys331=
NM_001287248.1:c.-299A>G	NP_001274177.1:n.-299A>G
XM_011521881.1:c.-189A>G	XP_011520183.1:n.-189A>G
XM_011521882.1:c.993A>G	XP_011520184.1:p.Lys331=
XM_011521881.2:c.-189A>G	XP_011520183.1:n.-189A>G
XM_011521882.3:c.993A>G	XP_011520184.1:p.Lys331=
NM_000057.4:c.993A>G MANE Select	NP_000048.1:p.Lys331=
NM_001287246.2:c.993A>G	NP_001274175.1:p.Lys331=
NM_001287247.2:c.993A>G	NP_001274176.1:p.Lys331=
NM_001287248.2:c.-299A>G	NP_001274177.1:n.-299A>G