Canonical Allele Identifier: CA393845230

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90769229C>T , CM000677.2:g.90769229C>T	GRCh38
NC_000015.9:g.91312459C>T , CM000677.1:g.91312459C>T	GRCh37
NC_000015.8:g.89113463C>T	NCBI36
NG_007272.1:g.56858C>T , LRG_20:g.56858C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.2404C>T MANE Select	NP_000048.1:p.Gln802Ter
ENST00000355112.8:c.2404C>T MANE Select	ENSP00000347232.3:p.Gln802Ter
NM_000057.3:c.2404C>T	NP_000048.1:p.Gln802Ter
NM_001287246.1:c.2404C>T	NP_001274175.1:p.Gln802Ter
NM_001287246.2:c.2404C>T	NP_001274175.1:p.Gln802Ter
NM_001287247.1:c.2404C>T	NP_001274176.1:p.Gln802Ter
NM_001287247.2:c.2404C>T	NP_001274176.1:p.Gln802Ter
NM_001287248.1:c.1279C>T	NP_001274177.1:p.Gln427Ter
NM_001287248.2:c.1279C>T	NP_001274177.1:p.Gln427Ter
ENST00000355112.7:c.2404C>T	ENSP00000347232.3:p.Gln802Ter
ENST00000559724.5:c.*1328C>T	ENSP00000453359.1:n.*1328C>T
ENST00000560136.5:n.430C>T
ENST00000560509.5:c.2404C>T	ENSP00000454158.1:p.Gln802Ter
ENST00000648453.1:c.2404C>T	ENSP00000497646.1:p.Gln802Ter
ENST00000680772.1:c.2404C>T	ENSP00000506117.1:p.Gln802Ter
ENST00000681142.1:c.2404C>T	ENSP00000506682.1:p.Gln802Ter
XM_006720632.2:c.442C>T	XP_006720695.1:p.Gln148Ter
XM_011521881.1:c.1090C>T	XP_011520183.1:p.Gln364Ter
XM_011521881.2:c.1090C>T	XP_011520183.1:p.Gln364Ter
XM_011521882.1:c.2404C>T	XP_011520184.1:p.Gln802Ter
XM_011521882.3:c.2404C>T	XP_011520184.1:p.Gln802Ter