Canonical Allele Identifier: CA393842285

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90760149A>T , CM000677.2:g.90760149A>T	GRCh38
NC_000015.9:g.91303379A>T , CM000677.1:g.91303379A>T	GRCh37
NC_000015.8:g.89104383A>T	NCBI36
NG_007272.1:g.47778A>T , LRG_20:g.47778A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.1090A>T MANE Select	NP_000048.1:p.Arg364Ter
ENST00000355112.8:c.1090A>T MANE Select	ENSP00000347232.3:p.Arg364Ter
NM_000057.3:c.1090A>T	NP_000048.1:p.Arg364Ter
NM_001287246.1:c.1090A>T	NP_001274175.1:p.Arg364Ter
NM_001287246.2:c.1090A>T	NP_001274175.1:p.Arg364Ter
NM_001287247.1:c.1090A>T	NP_001274176.1:p.Arg364Ter
NM_001287247.2:c.1090A>T	NP_001274176.1:p.Arg364Ter
NM_001287248.1:c.-36A>T	NP_001274177.1:n.-36A>T
NM_001287248.2:c.-36A>T	NP_001274177.1:n.-36A>T
ENST00000355112.7:c.1090A>T	ENSP00000347232.3:p.Arg364Ter
ENST00000558599.1:n.349-445A>T
ENST00000559724.5:c.*14A>T	ENSP00000453359.1:n.*14A>T
ENST00000560509.5:c.1090A>T	ENSP00000454158.1:p.Arg364Ter
ENST00000648453.1:c.1090A>T	ENSP00000497646.1:p.Arg364Ter
ENST00000680772.1:c.1090A>T	ENSP00000506117.1:p.Arg364Ter
ENST00000681142.1:c.1090A>T	ENSP00000506682.1:p.Arg364Ter
XM_011521881.1:c.-94-445A>T	XP_011520183.1:n.-94-445A>T
XM_011521881.2:c.-94-445A>T	XP_011520183.1:n.-94-445A>T
XM_011521882.1:c.1090A>T	XP_011520184.1:p.Arg364Ter
XM_011521882.3:c.1090A>T	XP_011520184.1:p.Arg364Ter