Canonical Allele Identifier: CA492164622

Gene: BLM

Linked Data

• dbSNP Id: rs2151187130
• gnomAD v4: 15-90794174-A-G
• MyVariant Identifiers: chr15:g.91337404A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794174A>G , CM000677.2:g.90794174A>G	GRCh38
NC_000015.9:g.91337404A>G , CM000677.1:g.91337404A>G	GRCh37
NC_000015.8:g.89138408A>G	NCBI36
NG_007272.1:g.81803A>G , LRG_20:g.81803A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3027A>G MANE Select	ENSP00000347232.3:p.Lys1009=
ENST00000560559.2:n.1600A>G
ENST00000648453.1:c.3027A>G	ENSP00000497646.1:p.Lys1009=
ENST00000680772.1:c.3027A>G	ENSP00000506117.1:p.Lys1009=
ENST00000681142.1:c.3027A>G	ENSP00000506682.1:p.Lys1009=
ENST00000355112.7:c.3027A>G	ENSP00000347232.3:p.Lys1009=
ENST00000558825.5:n.374A>G
ENST00000559724.5:c.*1951A>G	ENSP00000453359.1:n.*1951A>G
ENST00000560136.5:n.1053A>G
ENST00000560509.5:c.3027A>G	ENSP00000454158.1:p.Lys1009=
ENST00000560559.1:n.564A>G
NM_000057.3:c.3027A>G	NP_000048.1:p.Lys1009=
NM_001287246.1:c.3027A>G	NP_001274175.1:p.Lys1009=
NM_001287247.1:c.3027A>G	NP_001274176.1:p.Lys1009=
NM_001287248.1:c.1902A>G	NP_001274177.1:p.Lys634=
XM_006720632.2:c.1065A>G	XP_006720695.1:p.Lys355=
XM_011521881.1:c.1713A>G	XP_011520183.1:p.Lys571=
XM_011521881.2:c.1713A>G	XP_011520183.1:p.Lys571=
NM_000057.4:c.3027A>G MANE Select	NP_000048.1:p.Lys1009=
NM_001287246.2:c.3027A>G	NP_001274175.1:p.Lys1009=
NM_001287247.2:c.3027A>G	NP_001274176.1:p.Lys1009=
NM_001287248.2:c.1902A>G	NP_001274177.1:p.Lys634=