Canonical Allele Identifier: CA393850631

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354487A>C (hg19) ; chr15:g.90811257A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811257A>C , CM000677.2:g.90811257A>C	GRCh38
NC_000015.9:g.91354487A>C , CM000677.1:g.91354487A>C	GRCh37
NC_000015.8:g.89155491A>C	NCBI36
NG_007272.1:g.98886A>C , LRG_20:g.98886A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3927A>C MANE Select	ENSP00000347232.3:p.Arg1309Ser
ENST00000560559.2:n.2500A>C
ENST00000648453.1:c.3927A>C	ENSP00000497646.1:p.Arg1309Ser
ENST00000680772.1:c.3927A>C	ENSP00000506117.1:p.Arg1309Ser
ENST00000681142.1:c.3927A>C	ENSP00000506682.1:p.Arg1309Ser
ENST00000355112.7:c.3927A>C	ENSP00000347232.3:p.Arg1309Ser
ENST00000558825.5:n.1274A>C
ENST00000559724.5:c.*2851A>C	ENSP00000453359.1:n.*2851A>C
ENST00000560136.5:n.1953A>C
ENST00000560509.5:c.3534A>C	ENSP00000454158.1:p.Arg1178Ser
ENST00000560821.1:n.347A>C
NM_000057.3:c.3927A>C	NP_000048.1:p.Arg1309Ser
NM_001287246.1:c.3927A>C	NP_001274175.1:p.Arg1309Ser
NM_001287247.1:c.3534A>C	NP_001274176.1:p.Arg1178Ser
NM_001287248.1:c.2802A>C	NP_001274177.1:p.Arg934Ser
XM_006720632.2:c.1965A>C	XP_006720695.1:p.Arg655Ser
XM_011521881.1:c.2613A>C	XP_011520183.1:p.Arg871Ser
XM_011521881.2:c.2613A>C	XP_011520183.1:p.Arg871Ser
NM_000057.4:c.3927A>C MANE Select	NP_000048.1:p.Arg1309Ser
NM_001287246.2:c.3927A>C	NP_001274175.1:p.Arg1309Ser
NM_001287247.2:c.3534A>C	NP_001274176.1:p.Arg1178Ser
NM_001287248.2:c.2802A>C	NP_001274177.1:p.Arg934Ser