Canonical Allele Identifier: CA396872230

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81301602C>A (hg19) ; chr16:g.81267997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267997C>A , CM000678.2:g.81267997C>A	GRCh38
NC_000016.9:g.81301602C>A , CM000678.1:g.81301602C>A	GRCh37
NC_000016.8:g.79859103C>A	NCBI36
NG_012171.1:g.34307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.709C>A MANE Select	ENSP00000258168.2:p.His237Asn
ENST00000258168.6:c.709C>A	ENSP00000258168.2:p.His237Asn
ENST00000563804.5:c.*333C>A	ENSP00000457910.1:n.*333C>A
NM_017429.2:c.709C>A	NP_059125.2:p.His237Asn
XM_011523109.1:c.709C>A	XP_011521411.1:p.His237Asn
XM_011523110.1:c.160C>A	XP_011521412.1:p.His54Asn
XM_011523109.2:c.709C>A	XP_011521411.1:p.His237Asn
XM_017023286.2:c.709C>A	XP_016878775.1:p.His237Asn
XM_017023287.2:c.709C>A	XP_016878776.1:p.His237Asn
XM_017023288.2:c.709C>A	XP_016878777.1:p.His237Asn
XM_017023289.1:c.-24-45C>A	XP_016878778.1:n.-24-45C>A
XR_002957813.1:n.1081-45C>A
NM_017429.3:c.709C>A MANE Select	NP_059125.2:p.His237Asn