Canonical Allele Identifier: CA393849596

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90809143T>G , CM000677.2:g.90809143T>G	GRCh38
NC_000015.9:g.91352373T>G , CM000677.1:g.91352373T>G	GRCh37
NC_000015.8:g.89153377T>G	NCBI36
NG_007272.1:g.96772T>G , LRG_20:g.96772T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3758T>G MANE Select	NP_000048.1:p.Leu1253Ter
ENST00000355112.8:c.3758T>G MANE Select	ENSP00000347232.3:p.Leu1253Ter
NM_000057.3:c.3758T>G	NP_000048.1:p.Leu1253Ter
NM_001287246.1:c.3758T>G	NP_001274175.1:p.Leu1253Ter
NM_001287246.2:c.3758T>G	NP_001274175.1:p.Leu1253Ter
NM_001287247.1:c.3365T>G	NP_001274176.1:p.Leu1122Ter
NM_001287247.2:c.3365T>G	NP_001274176.1:p.Leu1122Ter
NM_001287248.1:c.2633T>G	NP_001274177.1:p.Leu878Ter
NM_001287248.2:c.2633T>G	NP_001274177.1:p.Leu878Ter
ENST00000355112.7:c.3758T>G	ENSP00000347232.3:p.Leu1253Ter
ENST00000558825.5:n.1105T>G
ENST00000559724.5:c.*2682T>G	ENSP00000453359.1:n.*2682T>G
ENST00000560136.5:n.1784T>G
ENST00000560509.5:c.3365T>G	ENSP00000454158.1:p.Leu1122Ter
ENST00000560559.2:n.2331T>G
ENST00000560821.1:n.178T>G
ENST00000648453.1:c.3758T>G	ENSP00000497646.1:p.Leu1253Ter
ENST00000680772.1:c.3758T>G	ENSP00000506117.1:p.Leu1253Ter
ENST00000681142.1:c.3758T>G	ENSP00000506682.1:p.Leu1253Ter
XM_006720632.2:c.1796T>G	XP_006720695.1:p.Leu599Ter
XM_011521881.1:c.2444T>G	XP_011520183.1:p.Leu815Ter
XM_011521881.2:c.2444T>G	XP_011520183.1:p.Leu815Ter