Canonical Allele Identifier: CA492157729

Gene: BLM

Linked Data

• ClinVar Variation Id: 1572537
• ClinVar RCV Id: RCV002219829
• dbSNP Id: rs2151199747
• MyVariant Identifiers: chr15:g.91354466C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811236C>A , CM000677.2:g.90811236C>A	GRCh38
NC_000015.9:g.91354466C>A , CM000677.1:g.91354466C>A	GRCh37
NC_000015.8:g.89155470C>A	NCBI36
NG_007272.1:g.98865C>A , LRG_20:g.98865C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3906C>A MANE Select	ENSP00000347232.3:p.Ser1302=
ENST00000560559.2:n.2479C>A
ENST00000648453.1:c.3906C>A	ENSP00000497646.1:p.Ser1302=
ENST00000680772.1:c.3906C>A	ENSP00000506117.1:p.Ser1302=
ENST00000681142.1:c.3906C>A	ENSP00000506682.1:p.Ser1302=
ENST00000355112.7:c.3906C>A	ENSP00000347232.3:p.Ser1302=
ENST00000558825.5:n.1253C>A
ENST00000559724.5:c.*2830C>A	ENSP00000453359.1:n.*2830C>A
ENST00000560136.5:n.1932C>A
ENST00000560509.5:c.3513C>A	ENSP00000454158.1:p.Ser1171=
ENST00000560821.1:n.326C>A
NM_000057.3:c.3906C>A	NP_000048.1:p.Ser1302=
NM_001287246.1:c.3906C>A	NP_001274175.1:p.Ser1302=
NM_001287247.1:c.3513C>A	NP_001274176.1:p.Ser1171=
NM_001287248.1:c.2781C>A	NP_001274177.1:p.Ser927=
XM_006720632.2:c.1944C>A	XP_006720695.1:p.Ser648=
XM_011521881.1:c.2592C>A	XP_011520183.1:p.Ser864=
XM_011521881.2:c.2592C>A	XP_011520183.1:p.Ser864=
NM_000057.4:c.3906C>A MANE Select	NP_000048.1:p.Ser1302=
NM_001287246.2:c.3906C>A	NP_001274175.1:p.Ser1302=
NM_001287247.2:c.3513C>A	NP_001274176.1:p.Ser1171=
NM_001287248.2:c.2781C>A	NP_001274177.1:p.Ser927=