Canonical Allele Identifier: CA274731557

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90815147C>T , CM000677.2:g.90815147C>T	GRCh38
NC_000015.9:g.91358377C>T , CM000677.1:g.91358377C>T	GRCh37
NC_000015.8:g.89159381C>T	NCBI36
NG_007272.1:g.102776C>T , LRG_20:g.102776C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.4122C>T MANE Select	NP_000048.1:p.Ser1374=
ENST00000355112.8:c.4122C>T MANE Select	ENSP00000347232.3:p.Ser1374=
NM_000057.3:c.4122C>T	NP_000048.1:p.Ser1374=
NM_001287246.1:c.4122C>T	NP_001274175.1:p.Ser1374=
NM_001287246.2:c.4122C>T	NP_001274175.1:p.Ser1374=
NM_001287247.1:c.3729C>T	NP_001274176.1:p.Ser1243=
NM_001287247.2:c.3729C>T	NP_001274176.1:p.Ser1243=
NM_001287248.1:c.2997C>T	NP_001274177.1:p.Ser999=
NM_001287248.2:c.2997C>T	NP_001274177.1:p.Ser999=
ENST00000355112.7:c.4122C>T	ENSP00000347232.3:p.Ser1374=
ENST00000558825.5:n.1469C>T
ENST00000559724.5:c.*3046C>T	ENSP00000453359.1:n.*3046C>T
ENST00000560509.5:c.3729C>T	ENSP00000454158.1:p.Ser1243=
ENST00000560559.2:n.2695C>T
ENST00000560821.1:n.542C>T
ENST00000648453.1:c.*84C>T	ENSP00000497646.1:n.*84C>T
ENST00000680772.1:c.4122C>T	ENSP00000506117.1:p.Ser1374=
XM_006720632.2:c.2160C>T	XP_006720695.1:p.Ser720=
XM_011521881.1:c.2808C>T	XP_011520183.1:p.Ser936=
XM_011521881.2:c.2808C>T	XP_011520183.1:p.Ser936=