Canonical Allele Identifier: CA7739180

Gene: BLM

Linked Data

• ClinVar Variation Id: 1737498
• ClinVar RCV Id: RCV002321417
• dbSNP Id: rs765550401
• ExAC: 15:91354625 C / T
• gnomAD v2: 15-91354625-C-T
• gnomAD v4: 15-90811395-C-T
• MyVariant Identifiers: chr15:g.91354625C>T (hg19) ; chr15:g.90811395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811395C>T , CM000677.2:g.90811395C>T	GRCh38
NC_000015.9:g.91354625C>T , CM000677.1:g.91354625C>T	GRCh37
NC_000015.8:g.89155629C>T	NCBI36
NG_007272.1:g.99024C>T , LRG_20:g.99024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4065C>T MANE Select	ENSP00000347232.3:p.Ser1355=
ENST00000560559.2:n.2638C>T
ENST00000648453.1:c.4065C>T	ENSP00000497646.1:p.Ser1355=
ENST00000680772.1:c.4065C>T	ENSP00000506117.1:p.Ser1355=
ENST00000681142.1:c.4065C>T	ENSP00000506682.1:p.Ser1355=
ENST00000355112.7:c.4065C>T	ENSP00000347232.3:p.Ser1355=
ENST00000558825.5:n.1412C>T
ENST00000559724.5:c.*2989C>T	ENSP00000453359.1:n.*2989C>T
ENST00000560509.5:c.3672C>T	ENSP00000454158.1:p.Ser1224=
ENST00000560821.1:n.485C>T
NM_000057.3:c.4065C>T	NP_000048.1:p.Ser1355=
NM_001287246.1:c.4065C>T	NP_001274175.1:p.Ser1355=
NM_001287247.1:c.3672C>T	NP_001274176.1:p.Ser1224=
NM_001287248.1:c.2940C>T	NP_001274177.1:p.Ser980=
XM_006720632.2:c.2103C>T	XP_006720695.1:p.Ser701=
XM_011521881.1:c.2751C>T	XP_011520183.1:p.Ser917=
XM_011521881.2:c.2751C>T	XP_011520183.1:p.Ser917=
NM_000057.4:c.4065C>T MANE Select	NP_000048.1:p.Ser1355=
NM_001287246.2:c.4065C>T	NP_001274175.1:p.Ser1355=
NM_001287247.2:c.3672C>T	NP_001274176.1:p.Ser1224=
NM_001287248.2:c.2940C>T	NP_001274177.1:p.Ser980=