Canonical Allele Identifier: CA2236989890
Community Standard Title: NM_017429.3(BCO1):c.801A= (p.Arg267=)
Gene: BCO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81268089A= , CM000678.2:g.81268089A= GRCh38
NC_000016.9:g.81301694A= , CM000678.1:g.81301694A= GRCh37
NC_000016.8:g.79859195A= NCBI36
NG_012171.1:g.34399A=

Transcript Alleles

HGVS Amino-acid Change
NM_017429.3:c.801A= MANE Select NP_059125.2:p.Arg267=
ENST00000258168.7:c.801A= MANE Select ENSP00000258168.2:p.Arg267=
NM_017429.2:c.801A= NP_059125.2:p.Arg267=
ENST00000258168.6:c.801A= ENSP00000258168.2:p.Arg267=
ENST00000563804.5:c.*425A= ENSP00000457910.1:n.*425A=
XM_011523109.1:c.801A= XP_011521411.1:p.Arg267=
XM_011523109.2:c.801A= XP_011521411.1:p.Arg267=
XM_011523110.1:c.252A= XP_011521412.1:p.Arg84=
XM_017023286.2:c.801A= XP_016878775.1:p.Arg267=
XM_017023287.2:c.801A= XP_016878776.1:p.Arg267=
XM_017023288.2:c.801A= XP_016878777.1:p.Arg267=
XM_017023289.1:c.24A= XP_016878778.1:p.Arg8=
XR_002957813.1:n.1128A=