Canonical Allele Identifier: CA16041782

Gene: BLM

Linked Data

• ClinVar Variation Id: 370736
• ClinVar RCV Id: RCV000409908
• dbSNP Id: rs1057516728
• MyVariant Identifiers: chr15:g.91352470C>A (hg19) ; chr15:g.90809240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90809240C>A , CM000677.2:g.90809240C>A	GRCh38
NC_000015.9:g.91352470C>A , CM000677.1:g.91352470C>A	GRCh37
NC_000015.8:g.89153474C>A	NCBI36
NG_007272.1:g.96869C>A , LRG_20:g.96869C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3855C>A MANE Select	ENSP00000347232.3:p.Tyr1285Ter
ENST00000560559.2:n.2428C>A
ENST00000648453.1:c.3855C>A	ENSP00000497646.1:p.Tyr1285Ter
ENST00000680772.1:c.3855C>A	ENSP00000506117.1:p.Tyr1285Ter
ENST00000681142.1:c.3855C>A	ENSP00000506682.1:p.Tyr1285Ter
ENST00000355112.7:c.3855C>A	ENSP00000347232.3:p.Tyr1285Ter
ENST00000558825.5:n.1202C>A
ENST00000559724.5:c.*2779C>A	ENSP00000453359.1:n.*2779C>A
ENST00000560136.5:n.1881C>A
ENST00000560509.5:c.3462C>A	ENSP00000454158.1:p.Tyr1154Ter
ENST00000560821.1:n.275C>A
NM_000057.3:c.3855C>A	NP_000048.1:p.Tyr1285Ter
NM_001287246.1:c.3855C>A	NP_001274175.1:p.Tyr1285Ter
NM_001287247.1:c.3462C>A	NP_001274176.1:p.Tyr1154Ter
NM_001287248.1:c.2730C>A	NP_001274177.1:p.Tyr910Ter
XM_006720632.2:c.1893C>A	XP_006720695.1:p.Tyr631Ter
XM_011521881.1:c.2541C>A	XP_011520183.1:p.Tyr847Ter
XM_011521881.2:c.2541C>A	XP_011520183.1:p.Tyr847Ter
NM_000057.4:c.3855C>A MANE Select	NP_000048.1:p.Tyr1285Ter
NM_001287246.2:c.3855C>A	NP_001274175.1:p.Tyr1285Ter
NM_001287247.2:c.3462C>A	NP_001274176.1:p.Tyr1154Ter
NM_001287248.2:c.2730C>A	NP_001274177.1:p.Tyr910Ter