Canonical Allele Identifier: CA393851341

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354588A>C (hg19) ; chr15:g.90811358A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811358A>C , CM000677.2:g.90811358A>C	GRCh38
NC_000015.9:g.91354588A>C , CM000677.1:g.91354588A>C	GRCh37
NC_000015.8:g.89155592A>C	NCBI36
NG_007272.1:g.98987A>C , LRG_20:g.98987A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4028A>C MANE Select	ENSP00000347232.3:p.Gln1343Pro
ENST00000560559.2:n.2601A>C
ENST00000648453.1:c.4028A>C	ENSP00000497646.1:p.Gln1343Pro
ENST00000680772.1:c.4028A>C	ENSP00000506117.1:p.Gln1343Pro
ENST00000681142.1:c.4028A>C	ENSP00000506682.1:p.Gln1343Pro
ENST00000355112.7:c.4028A>C	ENSP00000347232.3:p.Gln1343Pro
ENST00000558825.5:n.1375A>C
ENST00000559724.5:c.*2952A>C	ENSP00000453359.1:n.*2952A>C
ENST00000560509.5:c.3635A>C	ENSP00000454158.1:p.Gln1212Pro
ENST00000560821.1:n.448A>C
NM_000057.3:c.4028A>C	NP_000048.1:p.Gln1343Pro
NM_001287246.1:c.4028A>C	NP_001274175.1:p.Gln1343Pro
NM_001287247.1:c.3635A>C	NP_001274176.1:p.Gln1212Pro
NM_001287248.1:c.2903A>C	NP_001274177.1:p.Gln968Pro
XM_006720632.2:c.2066A>C	XP_006720695.1:p.Gln689Pro
XM_011521881.1:c.2714A>C	XP_011520183.1:p.Gln905Pro
XM_011521881.2:c.2714A>C	XP_011520183.1:p.Gln905Pro
NM_000057.4:c.4028A>C MANE Select	NP_000048.1:p.Gln1343Pro
NM_001287246.2:c.4028A>C	NP_001274175.1:p.Gln1343Pro
NM_001287247.2:c.3635A>C	NP_001274176.1:p.Gln1212Pro
NM_001287248.2:c.2903A>C	NP_001274177.1:p.Gln968Pro