Canonical Allele Identifier: CA393846661

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91337402A>T (hg19) ; chr15:g.90794172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794172A>T , CM000677.2:g.90794172A>T	GRCh38
NC_000015.9:g.91337402A>T , CM000677.1:g.91337402A>T	GRCh37
NC_000015.8:g.89138406A>T	NCBI36
NG_007272.1:g.81801A>T , LRG_20:g.81801A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3025A>T MANE Select	ENSP00000347232.3:p.Lys1009Ter
ENST00000560559.2:n.1598A>T
ENST00000648453.1:c.3025A>T	ENSP00000497646.1:p.Lys1009Ter
ENST00000680772.1:c.3025A>T	ENSP00000506117.1:p.Lys1009Ter
ENST00000681142.1:c.3025A>T	ENSP00000506682.1:p.Lys1009Ter
ENST00000355112.7:c.3025A>T	ENSP00000347232.3:p.Lys1009Ter
ENST00000558825.5:n.372A>T
ENST00000559724.5:c.*1949A>T	ENSP00000453359.1:n.*1949A>T
ENST00000560136.5:n.1051A>T
ENST00000560509.5:c.3025A>T	ENSP00000454158.1:p.Lys1009Ter
ENST00000560559.1:n.562A>T
NM_000057.3:c.3025A>T	NP_000048.1:p.Lys1009Ter
NM_001287246.1:c.3025A>T	NP_001274175.1:p.Lys1009Ter
NM_001287247.1:c.3025A>T	NP_001274176.1:p.Lys1009Ter
NM_001287248.1:c.1900A>T	NP_001274177.1:p.Lys634Ter
XM_006720632.2:c.1063A>T	XP_006720695.1:p.Lys355Ter
XM_011521881.1:c.1711A>T	XP_011520183.1:p.Lys571Ter
XM_011521881.2:c.1711A>T	XP_011520183.1:p.Lys571Ter
NM_000057.4:c.3025A>T MANE Select	NP_000048.1:p.Lys1009Ter
NM_001287246.2:c.3025A>T	NP_001274175.1:p.Lys1009Ter
NM_001287247.2:c.3025A>T	NP_001274176.1:p.Lys1009Ter
NM_001287248.2:c.1900A>T	NP_001274177.1:p.Lys634Ter