Canonical Allele Identifier: CA393839473

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91292647C>T (hg19) ; chr15:g.90749417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749417C>T , CM000677.2:g.90749417C>T	GRCh38
NC_000015.9:g.91292647C>T , CM000677.1:g.91292647C>T	GRCh37
NC_000015.8:g.89093651C>T	NCBI36
NG_007272.1:g.37046C>T , LRG_20:g.37046C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.149C>T MANE Select	ENSP00000347232.3:p.Thr50Ile
ENST00000648453.1:c.149C>T	ENSP00000497646.1:p.Thr50Ile
ENST00000680772.1:c.149C>T	ENSP00000506117.1:p.Thr50Ile
ENST00000681142.1:c.149C>T	ENSP00000506682.1:p.Thr50Ile
ENST00000355112.7:c.149C>T	ENSP00000347232.3:p.Thr50Ile
ENST00000559282.1:n.323C>T
ENST00000559724.5:c.149C>T	ENSP00000453359.1:p.Thr50Ile
ENST00000560509.5:c.149C>T	ENSP00000454158.1:p.Thr50Ile
NM_000057.3:c.149C>T	NP_000048.1:p.Thr50Ile
NM_001287246.1:c.149C>T	NP_001274175.1:p.Thr50Ile
NM_001287247.1:c.149C>T	NP_001274176.1:p.Thr50Ile
NM_001287248.1:c.-1143C>T	NP_001274177.1:n.-1143C>T
XM_011521882.1:c.149C>T	XP_011520184.1:p.Thr50Ile
XM_011521882.3:c.149C>T	XP_011520184.1:p.Thr50Ile
NM_000057.4:c.149C>T MANE Select	NP_000048.1:p.Thr50Ile
NM_001287246.2:c.149C>T	NP_001274175.1:p.Thr50Ile
NM_001287247.2:c.149C>T	NP_001274176.1:p.Thr50Ile
NM_001287248.2:c.-1143C>T	NP_001274177.1:n.-1143C>T