Canonical Allele Identifier: CA393850842

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354511G>T (hg19) ; chr15:g.90811281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811281G>T , CM000677.2:g.90811281G>T	GRCh38
NC_000015.9:g.91354511G>T , CM000677.1:g.91354511G>T	GRCh37
NC_000015.8:g.89155515G>T	NCBI36
NG_007272.1:g.98910G>T , LRG_20:g.98910G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3951G>T MANE Select	ENSP00000347232.3:p.Glu1317Asp
ENST00000560559.2:n.2524G>T
ENST00000648453.1:c.3951G>T	ENSP00000497646.1:p.Glu1317Asp
ENST00000680772.1:c.3951G>T	ENSP00000506117.1:p.Glu1317Asp
ENST00000681142.1:c.3951G>T	ENSP00000506682.1:p.Glu1317Asp
ENST00000355112.7:c.3951G>T	ENSP00000347232.3:p.Glu1317Asp
ENST00000558825.5:n.1298G>T
ENST00000559724.5:c.*2875G>T	ENSP00000453359.1:n.*2875G>T
ENST00000560136.5:n.1977G>T
ENST00000560509.5:c.3558G>T	ENSP00000454158.1:p.Glu1186Asp
ENST00000560821.1:n.371G>T
NM_000057.3:c.3951G>T	NP_000048.1:p.Glu1317Asp
NM_001287246.1:c.3951G>T	NP_001274175.1:p.Glu1317Asp
NM_001287247.1:c.3558G>T	NP_001274176.1:p.Glu1186Asp
NM_001287248.1:c.2826G>T	NP_001274177.1:p.Glu942Asp
XM_006720632.2:c.1989G>T	XP_006720695.1:p.Glu663Asp
XM_011521881.1:c.2637G>T	XP_011520183.1:p.Glu879Asp
XM_011521881.2:c.2637G>T	XP_011520183.1:p.Glu879Asp
NM_000057.4:c.3951G>T MANE Select	NP_000048.1:p.Glu1317Asp
NM_001287246.2:c.3951G>T	NP_001274175.1:p.Glu1317Asp
NM_001287247.2:c.3558G>T	NP_001274176.1:p.Glu1186Asp
NM_001287248.2:c.2826G>T	NP_001274177.1:p.Glu942Asp