Canonical Allele Identifier: CA393847542

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91346805C>A (hg19) ; chr15:g.90803575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803575C>A , CM000677.2:g.90803575C>A	GRCh38
NC_000015.9:g.91346805C>A , CM000677.1:g.91346805C>A	GRCh37
NC_000015.8:g.89147809C>A	NCBI36
NG_007272.1:g.91204C>A , LRG_20:g.91204C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3413C>A MANE Select	ENSP00000347232.3:p.Ser1138Ter
ENST00000560559.2:n.1986C>A
ENST00000648453.1:c.3413C>A	ENSP00000497646.1:p.Ser1138Ter
ENST00000680772.1:c.3413C>A	ENSP00000506117.1:p.Ser1138Ter
ENST00000681142.1:c.3413C>A	ENSP00000506682.1:p.Ser1138Ter
ENST00000355112.7:c.3413C>A	ENSP00000347232.3:p.Ser1138Ter
ENST00000558825.5:n.760C>A
ENST00000559724.5:c.*2337C>A	ENSP00000453359.1:n.*2337C>A
ENST00000560136.5:n.1439C>A
ENST00000560509.5:c.3358+5238C>A	ENSP00000454158.1:n.3358+5238C>A
NM_000057.3:c.3413C>A	NP_000048.1:p.Ser1138Ter
NM_001287246.1:c.3413C>A	NP_001274175.1:p.Ser1138Ter
NM_001287247.1:c.3358+5238C>A	NP_001274176.1:n.3358+5238C>A
NM_001287248.1:c.2288C>A	NP_001274177.1:p.Ser763Ter
XM_006720632.2:c.1451C>A	XP_006720695.1:p.Ser484Ter
XM_011521881.1:c.2099C>A	XP_011520183.1:p.Ser700Ter
XM_011521881.2:c.2099C>A	XP_011520183.1:p.Ser700Ter
NM_000057.4:c.3413C>A MANE Select	NP_000048.1:p.Ser1138Ter
NM_001287246.2:c.3413C>A	NP_001274175.1:p.Ser1138Ter
NM_001287247.2:c.3358+5238C>A	NP_001274176.1:n.3358+5238C>A
NM_001287248.2:c.2288C>A	NP_001274177.1:p.Ser763Ter