Canonical Allele Identifier: CA393841949

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90751939T>C , CM000677.2:g.90751939T>C	GRCh38
NC_000015.9:g.91295169T>C , CM000677.1:g.91295169T>C	GRCh37
NC_000015.8:g.89096173T>C	NCBI36
NG_007272.1:g.39568T>C , LRG_20:g.39568T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.952T>C MANE Select	NP_000048.1:p.Cys318Arg
ENST00000355112.8:c.952T>C MANE Select	ENSP00000347232.3:p.Cys318Arg
NM_000057.3:c.952T>C	NP_000048.1:p.Cys318Arg
NM_001287246.1:c.952T>C	NP_001274175.1:p.Cys318Arg
NM_001287246.2:c.952T>C	NP_001274175.1:p.Cys318Arg
NM_001287247.1:c.952T>C	NP_001274176.1:p.Cys318Arg
NM_001287247.2:c.952T>C	NP_001274176.1:p.Cys318Arg
NM_001287248.1:c.-340T>C	NP_001274177.1:n.-340T>C
NM_001287248.2:c.-340T>C	NP_001274177.1:n.-340T>C
ENST00000355112.7:c.952T>C	ENSP00000347232.3:p.Cys318Arg
ENST00000558599.1:n.213T>C
ENST00000559724.5:c.952T>C	ENSP00000453359.1:p.Cys318Arg
ENST00000560509.5:c.952T>C	ENSP00000454158.1:p.Cys318Arg
ENST00000648453.1:c.952T>C	ENSP00000497646.1:p.Cys318Arg
ENST00000680772.1:c.952T>C	ENSP00000506117.1:p.Cys318Arg
ENST00000681142.1:c.952T>C	ENSP00000506682.1:p.Cys318Arg
XM_011521881.1:c.-230T>C	XP_011520183.1:n.-230T>C
XM_011521881.2:c.-230T>C	XP_011520183.1:n.-230T>C
XM_011521882.1:c.952T>C	XP_011520184.1:p.Cys318Arg
XM_011521882.3:c.952T>C	XP_011520184.1:p.Cys318Arg