Canonical Allele Identifier: CA393849649

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90809169C>T , CM000677.2:g.90809169C>T	GRCh38
NC_000015.9:g.91352399C>T , CM000677.1:g.91352399C>T	GRCh37
NC_000015.8:g.89153403C>T	NCBI36
NG_007272.1:g.96798C>T , LRG_20:g.96798C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3784C>T MANE Select	NP_000048.1:p.Gln1262Ter
ENST00000355112.8:c.3784C>T MANE Select	ENSP00000347232.3:p.Gln1262Ter
NM_000057.3:c.3784C>T	NP_000048.1:p.Gln1262Ter
NM_001287246.1:c.3784C>T	NP_001274175.1:p.Gln1262Ter
NM_001287246.2:c.3784C>T	NP_001274175.1:p.Gln1262Ter
NM_001287247.1:c.3391C>T	NP_001274176.1:p.Gln1131Ter
NM_001287247.2:c.3391C>T	NP_001274176.1:p.Gln1131Ter
NM_001287248.1:c.2659C>T	NP_001274177.1:p.Gln887Ter
NM_001287248.2:c.2659C>T	NP_001274177.1:p.Gln887Ter
ENST00000355112.7:c.3784C>T	ENSP00000347232.3:p.Gln1262Ter
ENST00000558825.5:n.1131C>T
ENST00000559724.5:c.*2708C>T	ENSP00000453359.1:n.*2708C>T
ENST00000560136.5:n.1810C>T
ENST00000560509.5:c.3391C>T	ENSP00000454158.1:p.Gln1131Ter
ENST00000560559.2:n.2357C>T
ENST00000560821.1:n.204C>T
ENST00000648453.1:c.3784C>T	ENSP00000497646.1:p.Gln1262Ter
ENST00000680772.1:c.3784C>T	ENSP00000506117.1:p.Gln1262Ter
ENST00000681142.1:c.3784C>T	ENSP00000506682.1:p.Gln1262Ter
XM_006720632.2:c.1822C>T	XP_006720695.1:p.Gln608Ter
XM_011521881.1:c.2470C>T	XP_011520183.1:p.Gln824Ter
XM_011521881.2:c.2470C>T	XP_011520183.1:p.Gln824Ter