Canonical Allele Identifier: CA396872254

Gene: BCO1

Linked Data

• dbSNP Id: rs1212213618
• gnomAD v2: 16-81301603-A-G
• MyVariant Identifiers: chr16:g.81301603A>G (hg19) ; chr16:g.81267998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267998A>G , CM000678.2:g.81267998A>G	GRCh38
NC_000016.9:g.81301603A>G , CM000678.1:g.81301603A>G	GRCh37
NC_000016.8:g.79859104A>G	NCBI36
NG_012171.1:g.34308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.710A>G MANE Select	ENSP00000258168.2:p.His237Arg
ENST00000258168.6:c.710A>G	ENSP00000258168.2:p.His237Arg
ENST00000563804.5:c.*334A>G	ENSP00000457910.1:n.*334A>G
NM_017429.2:c.710A>G	NP_059125.2:p.His237Arg
XM_011523109.1:c.710A>G	XP_011521411.1:p.His237Arg
XM_011523110.1:c.161A>G	XP_011521412.1:p.His54Arg
XM_011523109.2:c.710A>G	XP_011521411.1:p.His237Arg
XM_017023286.2:c.710A>G	XP_016878775.1:p.His237Arg
XM_017023287.2:c.710A>G	XP_016878776.1:p.His237Arg
XM_017023288.2:c.710A>G	XP_016878777.1:p.His237Arg
XM_017023289.1:c.-24-44A>G	XP_016878778.1:n.-24-44A>G
XR_002957813.1:n.1081-44A>G
NM_017429.3:c.710A>G MANE Select	NP_059125.2:p.His237Arg