Canonical Allele Identifier: CA496463665

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81314503A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280898A>C , CM000678.2:g.81280898A>C	GRCh38
NC_000016.9:g.81314503A>C , CM000678.1:g.81314503A>C	GRCh37
NC_000016.8:g.79872004A>C	NCBI36
NG_012171.1:g.47208A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1143A>C MANE Select	ENSP00000258168.2:p.Thr381=
ENST00000258168.6:c.1143A>C	ENSP00000258168.2:p.Thr381=
ENST00000563804.5:c.*767A>C	ENSP00000457910.1:n.*767A>C
NM_017429.2:c.1143A>C	NP_059125.2:p.Thr381=
XM_011523109.1:c.1102-6397A>C	XP_011521411.1:n.1102-6397A>C
XM_011523110.1:c.594A>C	XP_011521412.1:p.Thr198=
XM_011523109.2:c.1102-6397A>C	XP_011521411.1:n.1102-6397A>C
XM_017023286.2:c.1143A>C	XP_016878775.1:p.Thr381=
XM_017023287.2:c.1143A>C	XP_016878776.1:p.Thr381=
XM_017023288.2:c.1143A>C	XP_016878777.1:p.Thr381=
XM_017023289.1:c.366A>C	XP_016878778.1:p.Thr122=
XR_002957813.1:n.1470A>C
NM_017429.3:c.1143A>C MANE Select	NP_059125.2:p.Thr381=