Canonical Allele Identifier: CA287115

Gene: BLM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804359G>C , CM000677.2:g.90804359G>C	GRCh38
NC_000015.9:g.91347589G>C , CM000677.1:g.91347589G>C	GRCh37
NC_000015.8:g.89148593G>C	NCBI36
NG_007272.1:g.91988G>C , LRG_20:g.91988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3751G>C MANE Select	ENSP00000347232.3:p.Glu1251Gln
ENST00000560559.2:n.2324G>C
ENST00000648453.1:c.3751G>C	ENSP00000497646.1:p.Glu1251Gln
ENST00000680772.1:c.3751G>C	ENSP00000506117.1:p.Glu1251Gln
ENST00000681142.1:c.3751G>C	ENSP00000506682.1:p.Glu1251Gln
ENST00000355112.7:c.3751G>C	ENSP00000347232.3:p.Glu1251Gln
ENST00000558825.5:n.1098G>C
ENST00000559724.5:c.*2675G>C	ENSP00000453359.1:n.*2675G>C
ENST00000560136.5:n.1777G>C
ENST00000560509.5:c.3359-4778G>C	ENSP00000454158.1:n.3359-4778G>C
NM_000057.3:c.3751G>C	NP_000048.1:p.Glu1251Gln
NM_001287246.1:c.3751G>C	NP_001274175.1:p.Glu1251Gln
NM_001287247.1:c.3359-4778G>C	NP_001274176.1:n.3359-4778G>C
NM_001287248.1:c.2626G>C	NP_001274177.1:p.Glu876Gln
XM_006720632.2:c.1789G>C	XP_006720695.1:p.Glu597Gln
XM_011521881.1:c.2437G>C	XP_011520183.1:p.Glu813Gln
XM_011521881.2:c.2437G>C	XP_011520183.1:p.Glu813Gln
NM_000057.4:c.3751G>C MANE Select	NP_000048.1:p.Glu1251Gln
NM_001287246.2:c.3751G>C	NP_001274175.1:p.Glu1251Gln
NM_001287247.2:c.3359-4778G>C	NP_001274176.1:n.3359-4778G>C
NM_001287248.2:c.2626G>C	NP_001274177.1:p.Glu876Gln