Canonical Allele Identifier: CA915946137

Gene: BLM

Linked Data

• ClinVar Variation Id: 766130
• ClinVar RCV Id: RCV000944629
• dbSNP Id: rs1596259789

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794160C>T , CM000677.2:g.90794160C>T	GRCh38
NC_000015.9:g.91337390C>T , CM000677.1:g.91337390C>T	GRCh37
NC_000015.8:g.89138394C>T	NCBI36
NG_007272.1:g.81789C>T , LRG_20:g.81789C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3020-7C>T MANE Select	ENSP00000347232.3:n.3020-7C>T
ENST00000560559.2:n.1593-7C>T
ENST00000648453.1:c.3020-7C>T	ENSP00000497646.1:n.3020-7C>T
ENST00000680772.1:c.3020-7C>T	ENSP00000506117.1:n.3020-7C>T
ENST00000681142.1:c.3020-7C>T	ENSP00000506682.1:n.3020-7C>T
ENST00000355112.7:c.3020-7C>T	ENSP00000347232.3:n.3020-7C>T
ENST00000558825.5:n.360C>T
ENST00000559724.5:c.*1944-7C>T	ENSP00000453359.1:n.*1944-7C>T
ENST00000560136.5:n.1046-7C>T
ENST00000560509.5:c.3020-7C>T	ENSP00000454158.1:n.3020-7C>T
ENST00000560559.1:n.557-7C>T
NM_000057.3:c.3020-7C>T	NP_000048.1:n.3020-7C>T
NM_001287246.1:c.3020-7C>T	NP_001274175.1:n.3020-7C>T
NM_001287247.1:c.3020-7C>T	NP_001274176.1:n.3020-7C>T
NM_001287248.1:c.1895-7C>T	NP_001274177.1:n.1895-7C>T
XM_006720632.2:c.1058-7C>T	XP_006720695.1:n.1058-7C>T
XM_011521881.1:c.1706-7C>T	XP_011520183.1:n.1706-7C>T
XM_011521881.2:c.1706-7C>T	XP_011520183.1:n.1706-7C>T
NM_000057.4:c.3020-7C>T MANE Select	NP_000048.1:n.3020-7C>T
NM_001287246.2:c.3020-7C>T	NP_001274175.1:n.3020-7C>T
NM_001287247.2:c.3020-7C>T	NP_001274176.1:n.3020-7C>T
NM_001287248.2:c.1895-7C>T	NP_001274177.1:n.1895-7C>T