Canonical Allele Identifier: CA393850986

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811305C>A , CM000677.2:g.90811305C>A	GRCh38
NC_000015.9:g.91354535C>A , CM000677.1:g.91354535C>A	GRCh37
NC_000015.8:g.89155539C>A	NCBI36
NG_007272.1:g.98934C>A , LRG_20:g.98934C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3975C>A MANE Select	NP_000048.1:p.Tyr1325Ter
ENST00000355112.8:c.3975C>A MANE Select	ENSP00000347232.3:p.Tyr1325Ter
NM_000057.3:c.3975C>A	NP_000048.1:p.Tyr1325Ter
NM_001287246.1:c.3975C>A	NP_001274175.1:p.Tyr1325Ter
NM_001287246.2:c.3975C>A	NP_001274175.1:p.Tyr1325Ter
NM_001287247.1:c.3582C>A	NP_001274176.1:p.Tyr1194Ter
NM_001287247.2:c.3582C>A	NP_001274176.1:p.Tyr1194Ter
NM_001287248.1:c.2850C>A	NP_001274177.1:p.Tyr950Ter
NM_001287248.2:c.2850C>A	NP_001274177.1:p.Tyr950Ter
ENST00000355112.7:c.3975C>A	ENSP00000347232.3:p.Tyr1325Ter
ENST00000558825.5:n.1322C>A
ENST00000559724.5:c.*2899C>A	ENSP00000453359.1:n.*2899C>A
ENST00000560136.5:n.2001C>A
ENST00000560509.5:c.3582C>A	ENSP00000454158.1:p.Tyr1194Ter
ENST00000560559.2:n.2548C>A
ENST00000560821.1:n.395C>A
ENST00000648453.1:c.3975C>A	ENSP00000497646.1:p.Tyr1325Ter
ENST00000680772.1:c.3975C>A	ENSP00000506117.1:p.Tyr1325Ter
ENST00000681142.1:c.3975C>A	ENSP00000506682.1:p.Tyr1325Ter
XM_006720632.2:c.2013C>A	XP_006720695.1:p.Tyr671Ter
XM_011521881.1:c.2661C>A	XP_011520183.1:p.Tyr887Ter
XM_011521881.2:c.2661C>A	XP_011520183.1:p.Tyr887Ter