Canonical Allele Identifier: CA7739162

Gene: BLM

Linked Data

• ClinVar Variation Id: 524764
• ClinVar RCV Id: RCV000628625 ; RCV002358750 ; RCV003237958
• dbSNP Id: rs768010078
• ExAC: 15:91354482 G / A
• gnomAD v2: 15-91354482-G-A
• gnomAD v3: 15-90811252-G-A
• gnomAD v4: 15-90811252-G-A
• COSMIC: COSM4057912
• MyVariant Identifiers: chr15:g.91354482G>A (hg19) ; chr15:g.90811252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811252G>A , CM000677.2:g.90811252G>A	GRCh38
NC_000015.9:g.91354482G>A , CM000677.1:g.91354482G>A	GRCh37
NC_000015.8:g.89155486G>A	NCBI36
NG_007272.1:g.98881G>A , LRG_20:g.98881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3922G>A MANE Select	ENSP00000347232.3:p.Gly1308Arg
ENST00000560559.2:n.2495G>A
ENST00000648453.1:c.3922G>A	ENSP00000497646.1:p.Gly1308Arg
ENST00000680772.1:c.3922G>A	ENSP00000506117.1:p.Gly1308Arg
ENST00000681142.1:c.3922G>A	ENSP00000506682.1:p.Gly1308Arg
ENST00000355112.7:c.3922G>A	ENSP00000347232.3:p.Gly1308Arg
ENST00000558825.5:n.1269G>A
ENST00000559724.5:c.*2846G>A	ENSP00000453359.1:n.*2846G>A
ENST00000560136.5:n.1948G>A
ENST00000560509.5:c.3529G>A	ENSP00000454158.1:p.Gly1177Arg
ENST00000560821.1:n.342G>A
NM_000057.3:c.3922G>A	NP_000048.1:p.Gly1308Arg
NM_001287246.1:c.3922G>A	NP_001274175.1:p.Gly1308Arg
NM_001287247.1:c.3529G>A	NP_001274176.1:p.Gly1177Arg
NM_001287248.1:c.2797G>A	NP_001274177.1:p.Gly933Arg
XM_006720632.2:c.1960G>A	XP_006720695.1:p.Gly654Arg
XM_011521881.1:c.2608G>A	XP_011520183.1:p.Gly870Arg
XM_011521881.2:c.2608G>A	XP_011520183.1:p.Gly870Arg
NM_000057.4:c.3922G>A MANE Select	NP_000048.1:p.Gly1308Arg
NM_001287246.2:c.3922G>A	NP_001274175.1:p.Gly1308Arg
NM_001287247.2:c.3529G>A	NP_001274176.1:p.Gly1177Arg
NM_001287248.2:c.2797G>A	NP_001274177.1:p.Gly933Arg