Canonical Allele Identifier: CA496463649

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81314497A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280892A>G , CM000678.2:g.81280892A>G	GRCh38
NC_000016.9:g.81314497A>G , CM000678.1:g.81314497A>G	GRCh37
NC_000016.8:g.79871998A>G	NCBI36
NG_012171.1:g.47202A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1137A>G MANE Select	ENSP00000258168.2:p.Ala379=
ENST00000258168.6:c.1137A>G	ENSP00000258168.2:p.Ala379=
ENST00000563804.5:c.*761A>G	ENSP00000457910.1:n.*761A>G
NM_017429.2:c.1137A>G	NP_059125.2:p.Ala379=
XM_011523109.1:c.1102-6403A>G	XP_011521411.1:n.1102-6403A>G
XM_011523110.1:c.588A>G	XP_011521412.1:p.Ala196=
XM_011523109.2:c.1102-6403A>G	XP_011521411.1:n.1102-6403A>G
XM_017023286.2:c.1137A>G	XP_016878775.1:p.Ala379=
XM_017023287.2:c.1137A>G	XP_016878776.1:p.Ala379=
XM_017023288.2:c.1137A>G	XP_016878777.1:p.Ala379=
XM_017023289.1:c.360A>G	XP_016878778.1:p.Ala120=
XR_002957813.1:n.1464A>G
NM_017429.3:c.1137A>G MANE Select	NP_059125.2:p.Ala379=