Canonical Allele Identifier: CA274729581

Gene: BLM

Linked Data

• dbSNP Id: rs567428780
• gnomAD v2: 15-91355426-C-T
• gnomAD v3: 15-90812196-C-T
• gnomAD v4: 15-90812196-C-T
• MyVariant Identifiers: chr15:g.91355426C>T (hg19) ; chr15:g.90812196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90812196C>T , CM000677.2:g.90812196C>T	GRCh38
NC_000015.9:g.91355426C>T , CM000677.1:g.91355426C>T	GRCh37
NC_000015.8:g.89156430C>T	NCBI36
NG_007272.1:g.99825C>T , LRG_20:g.99825C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.4076+790C>T MANE Select	ENSP00000347232.3:n.4076+790C>T
ENST00000560559.2:n.2649+790C>T
ENST00000648453.1:c.*38+396C>T	ENSP00000497646.1:n.*38+396C>T
ENST00000680772.1:c.4076+790C>T	ENSP00000506117.1:n.4076+790C>T
ENST00000355112.7:c.4076+790C>T	ENSP00000347232.3:n.4076+790C>T
ENST00000558825.5:n.1423+790C>T
ENST00000559724.5:c.*3000+790C>T	ENSP00000453359.1:n.*3000+790C>T
ENST00000560509.5:c.3683+790C>T	ENSP00000454158.1:n.3683+790C>T
ENST00000560821.1:n.496+790C>T
NM_000057.3:c.4076+790C>T	NP_000048.1:n.4076+790C>T
NM_001287246.1:c.4076+790C>T	NP_001274175.1:n.4076+790C>T
NM_001287247.1:c.3683+790C>T	NP_001274176.1:n.3683+790C>T
NM_001287248.1:c.2951+790C>T	NP_001274177.1:n.2951+790C>T
XM_006720632.2:c.2114+790C>T	XP_006720695.1:n.2114+790C>T
XM_011521881.1:c.2762+790C>T	XP_011520183.1:n.2762+790C>T
XM_011521881.2:c.2762+790C>T	XP_011520183.1:n.2762+790C>T
NM_000057.4:c.4076+790C>T MANE Select	NP_000048.1:n.4076+790C>T
NM_001287246.2:c.4076+790C>T	NP_001274175.1:n.4076+790C>T
NM_001287247.2:c.3683+790C>T	NP_001274176.1:n.3683+790C>T
NM_001287248.2:c.2951+790C>T	NP_001274177.1:n.2951+790C>T