Canonical Allele Identifier: CA396871828

Gene: BCO1

Linked Data

• gnomAD v4: 16-81267959-C-G
• MyVariant Identifiers: chr16:g.81301564C>G (hg19) ; chr16:g.81267959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81267959C>G , CM000678.2:g.81267959C>G	GRCh38
NC_000016.9:g.81301564C>G , CM000678.1:g.81301564C>G	GRCh37
NC_000016.8:g.79859065C>G	NCBI36
NG_012171.1:g.34269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.671C>G MANE Select	ENSP00000258168.2:p.Ser224Cys
ENST00000258168.6:c.671C>G	ENSP00000258168.2:p.Ser224Cys
ENST00000563804.5:c.*295C>G	ENSP00000457910.1:n.*295C>G
NM_017429.2:c.671C>G	NP_059125.2:p.Ser224Cys
XM_011523109.1:c.671C>G	XP_011521411.1:p.Ser224Cys
XM_011523110.1:c.122C>G	XP_011521412.1:p.Ser41Cys
XM_011523109.2:c.671C>G	XP_011521411.1:p.Ser224Cys
XM_017023286.2:c.671C>G	XP_016878775.1:p.Ser224Cys
XM_017023287.2:c.671C>G	XP_016878776.1:p.Ser224Cys
XM_017023288.2:c.671C>G	XP_016878777.1:p.Ser224Cys
XM_017023289.1:c.-24-83C>G	XP_016878778.1:n.-24-83C>G
XR_002957813.1:n.1081-83C>G
NM_017429.3:c.671C>G MANE Select	NP_059125.2:p.Ser224Cys