Canonical Allele Identifier: CA496461147

Gene: BCO1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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