Canonical Allele Identifier: CA393850982

Gene: BLM

Linked Data

• dbSNP Id: rs1897412964
• gnomAD v3: 15-90811304-A-G
• gnomAD v4: 15-90811304-A-G
• MyVariant Identifiers: chr15:g.91354534A>G (hg19) ; chr15:g.90811304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811304A>G , CM000677.2:g.90811304A>G	GRCh38
NC_000015.9:g.91354534A>G , CM000677.1:g.91354534A>G	GRCh37
NC_000015.8:g.89155538A>G	NCBI36
NG_007272.1:g.98933A>G , LRG_20:g.98933A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3974A>G MANE Select	ENSP00000347232.3:p.Tyr1325Cys
ENST00000560559.2:n.2547A>G
ENST00000648453.1:c.3974A>G	ENSP00000497646.1:p.Tyr1325Cys
ENST00000680772.1:c.3974A>G	ENSP00000506117.1:p.Tyr1325Cys
ENST00000681142.1:c.3974A>G	ENSP00000506682.1:p.Tyr1325Cys
ENST00000355112.7:c.3974A>G	ENSP00000347232.3:p.Tyr1325Cys
ENST00000558825.5:n.1321A>G
ENST00000559724.5:c.*2898A>G	ENSP00000453359.1:n.*2898A>G
ENST00000560136.5:n.2000A>G
ENST00000560509.5:c.3581A>G	ENSP00000454158.1:p.Tyr1194Cys
ENST00000560821.1:n.394A>G
NM_000057.3:c.3974A>G	NP_000048.1:p.Tyr1325Cys
NM_001287246.1:c.3974A>G	NP_001274175.1:p.Tyr1325Cys
NM_001287247.1:c.3581A>G	NP_001274176.1:p.Tyr1194Cys
NM_001287248.1:c.2849A>G	NP_001274177.1:p.Tyr950Cys
XM_006720632.2:c.2012A>G	XP_006720695.1:p.Tyr671Cys
XM_011521881.1:c.2660A>G	XP_011520183.1:p.Tyr887Cys
XM_011521881.2:c.2660A>G	XP_011520183.1:p.Tyr887Cys
NM_000057.4:c.3974A>G MANE Select	NP_000048.1:p.Tyr1325Cys
NM_001287246.2:c.3974A>G	NP_001274175.1:p.Tyr1325Cys
NM_001287247.2:c.3581A>G	NP_001274176.1:p.Tyr1194Cys
NM_001287248.2:c.2849A>G	NP_001274177.1:p.Tyr950Cys