Canonical Allele Identifier: CA393849637

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90809164T>A , CM000677.2:g.90809164T>A	GRCh38
NC_000015.9:g.91352394T>A , CM000677.1:g.91352394T>A	GRCh37
NC_000015.8:g.89153398T>A	NCBI36
NG_007272.1:g.96793T>A , LRG_20:g.96793T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3779T>A MANE Select	NP_000048.1:p.Leu1260Ter
ENST00000355112.8:c.3779T>A MANE Select	ENSP00000347232.3:p.Leu1260Ter
NM_000057.3:c.3779T>A	NP_000048.1:p.Leu1260Ter
NM_001287246.1:c.3779T>A	NP_001274175.1:p.Leu1260Ter
NM_001287246.2:c.3779T>A	NP_001274175.1:p.Leu1260Ter
NM_001287247.1:c.3386T>A	NP_001274176.1:p.Leu1129Ter
NM_001287247.2:c.3386T>A	NP_001274176.1:p.Leu1129Ter
NM_001287248.1:c.2654T>A	NP_001274177.1:p.Leu885Ter
NM_001287248.2:c.2654T>A	NP_001274177.1:p.Leu885Ter
ENST00000355112.7:c.3779T>A	ENSP00000347232.3:p.Leu1260Ter
ENST00000558825.5:n.1126T>A
ENST00000559724.5:c.*2703T>A	ENSP00000453359.1:n.*2703T>A
ENST00000560136.5:n.1805T>A
ENST00000560509.5:c.3386T>A	ENSP00000454158.1:p.Leu1129Ter
ENST00000560559.2:n.2352T>A
ENST00000560821.1:n.199T>A
ENST00000648453.1:c.3779T>A	ENSP00000497646.1:p.Leu1260Ter
ENST00000680772.1:c.3779T>A	ENSP00000506117.1:p.Leu1260Ter
ENST00000681142.1:c.3779T>A	ENSP00000506682.1:p.Leu1260Ter
XM_006720632.2:c.1817T>A	XP_006720695.1:p.Leu606Ter
XM_011521881.1:c.2465T>A	XP_011520183.1:p.Leu822Ter
XM_011521881.2:c.2465T>A	XP_011520183.1:p.Leu822Ter