Canonical Allele Identifier: CA396876795

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81314499C>G (hg19) ; chr16:g.81280894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280894C>G , CM000678.2:g.81280894C>G	GRCh38
NC_000016.9:g.81314499C>G , CM000678.1:g.81314499C>G	GRCh37
NC_000016.8:g.79872000C>G	NCBI36
NG_012171.1:g.47204C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1139C>G MANE Select	ENSP00000258168.2:p.Ser380Cys
ENST00000258168.6:c.1139C>G	ENSP00000258168.2:p.Ser380Cys
ENST00000563804.5:c.*763C>G	ENSP00000457910.1:n.*763C>G
NM_017429.2:c.1139C>G	NP_059125.2:p.Ser380Cys
XM_011523109.1:c.1102-6401C>G	XP_011521411.1:n.1102-6401C>G
XM_011523110.1:c.590C>G	XP_011521412.1:p.Ser197Cys
XM_011523109.2:c.1102-6401C>G	XP_011521411.1:n.1102-6401C>G
XM_017023286.2:c.1139C>G	XP_016878775.1:p.Ser380Cys
XM_017023287.2:c.1139C>G	XP_016878776.1:p.Ser380Cys
XM_017023288.2:c.1139C>G	XP_016878777.1:p.Ser380Cys
XM_017023289.1:c.362C>G	XP_016878778.1:p.Ser121Cys
XR_002957813.1:n.1466C>G
NM_017429.3:c.1139C>G MANE Select	NP_059125.2:p.Ser380Cys