Canonical Allele Identifier: CA7739203

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90815149G>A , CM000677.2:g.90815149G>A	GRCh38
NC_000015.9:g.91358379G>A , CM000677.1:g.91358379G>A	GRCh37
NC_000015.8:g.89159383G>A	NCBI36
NG_007272.1:g.102778G>A , LRG_20:g.102778G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.4124G>A MANE Select	NP_000048.1:p.Ser1375Asn
ENST00000355112.8:c.4124G>A MANE Select	ENSP00000347232.3:p.Ser1375Asn
NM_000057.3:c.4124G>A	NP_000048.1:p.Ser1375Asn
NM_001287246.1:c.4124G>A	NP_001274175.1:p.Ser1375Asn
NM_001287246.2:c.4124G>A	NP_001274175.1:p.Ser1375Asn
NM_001287247.1:c.3731G>A	NP_001274176.1:p.Ser1244Asn
NM_001287247.2:c.3731G>A	NP_001274176.1:p.Ser1244Asn
NM_001287248.1:c.2999G>A	NP_001274177.1:p.Ser1000Asn
NM_001287248.2:c.2999G>A	NP_001274177.1:p.Ser1000Asn
ENST00000355112.7:c.4124G>A	ENSP00000347232.3:p.Ser1375Asn
ENST00000558825.5:n.1471G>A
ENST00000559724.5:c.*3048G>A	ENSP00000453359.1:n.*3048G>A
ENST00000560509.5:c.3731G>A	ENSP00000454158.1:p.Ser1244Asn
ENST00000560559.2:n.2697G>A
ENST00000560821.1:n.544G>A
ENST00000648453.1:c.*86G>A	ENSP00000497646.1:n.*86G>A
ENST00000680772.1:c.4124G>A	ENSP00000506117.1:p.Ser1375Asn
XM_006720632.2:c.2162G>A	XP_006720695.1:p.Ser721Asn
XM_011521881.1:c.2810G>A	XP_011520183.1:p.Ser937Asn
XM_011521881.2:c.2810G>A	XP_011520183.1:p.Ser937Asn