Canonical Allele Identifier: CA393847819

Gene: BLM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803700G>A , CM000677.2:g.90803700G>A	GRCh38
NC_000015.9:g.91346930G>A , CM000677.1:g.91346930G>A	GRCh37
NC_000015.8:g.89147934G>A	NCBI36
NG_007272.1:g.91329G>A , LRG_20:g.91329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3538G>A MANE Select	ENSP00000347232.3:p.Val1180Ile
ENST00000560559.2:n.2111G>A
ENST00000648453.1:c.3538G>A	ENSP00000497646.1:p.Val1180Ile
ENST00000680772.1:c.3538G>A	ENSP00000506117.1:p.Val1180Ile
ENST00000681142.1:c.3538G>A	ENSP00000506682.1:p.Val1180Ile
ENST00000355112.7:c.3538G>A	ENSP00000347232.3:p.Val1180Ile
ENST00000558825.5:n.885G>A
ENST00000559724.5:c.*2462G>A	ENSP00000453359.1:n.*2462G>A
ENST00000560136.5:n.1564G>A
ENST00000560509.5:c.3358+5363G>A	ENSP00000454158.1:n.3358+5363G>A
NM_000057.3:c.3538G>A	NP_000048.1:p.Val1180Ile
NM_001287246.1:c.3538G>A	NP_001274175.1:p.Val1180Ile
NM_001287247.1:c.3358+5363G>A	NP_001274176.1:n.3358+5363G>A
NM_001287248.1:c.2413G>A	NP_001274177.1:p.Val805Ile
XM_006720632.2:c.1576G>A	XP_006720695.1:p.Val526Ile
XM_011521881.1:c.2224G>A	XP_011520183.1:p.Val742Ile
XM_011521881.2:c.2224G>A	XP_011520183.1:p.Val742Ile
NM_000057.4:c.3538G>A MANE Select	NP_000048.1:p.Val1180Ile
NM_001287246.2:c.3538G>A	NP_001274175.1:p.Val1180Ile
NM_001287247.2:c.3358+5363G>A	NP_001274176.1:n.3358+5363G>A
NM_001287248.2:c.2413G>A	NP_001274177.1:p.Val805Ile