Canonical Allele Identifier: CA396872289

Gene: BCO1

Linked Data

• gnomAD v4: 16-81268000-A-G
• MyVariant Identifiers: chr16:g.81301605A>G (hg19) ; chr16:g.81268000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81268000A>G , CM000678.2:g.81268000A>G	GRCh38
NC_000016.9:g.81301605A>G , CM000678.1:g.81301605A>G	GRCh37
NC_000016.8:g.79859106A>G	NCBI36
NG_012171.1:g.34310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.712A>G MANE Select	ENSP00000258168.2:p.Ser238Gly
ENST00000258168.6:c.712A>G	ENSP00000258168.2:p.Ser238Gly
ENST00000563804.5:c.*336A>G	ENSP00000457910.1:n.*336A>G
NM_017429.2:c.712A>G	NP_059125.2:p.Ser238Gly
XM_011523109.1:c.712A>G	XP_011521411.1:p.Ser238Gly
XM_011523110.1:c.163A>G	XP_011521412.1:p.Ser55Gly
XM_011523109.2:c.712A>G	XP_011521411.1:p.Ser238Gly
XM_017023286.2:c.712A>G	XP_016878775.1:p.Ser238Gly
XM_017023287.2:c.712A>G	XP_016878776.1:p.Ser238Gly
XM_017023288.2:c.712A>G	XP_016878777.1:p.Ser238Gly
XM_017023289.1:c.-24-42A>G	XP_016878778.1:n.-24-42A>G
XR_002957813.1:n.1081-42A>G
NM_017429.3:c.712A>G MANE Select	NP_059125.2:p.Ser238Gly