Canonical Allele Identifier: CA496463680

Gene: BCO1

Linked Data

• MyVariant Identifiers: chr16:g.81314509C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280904C>A , CM000678.2:g.81280904C>A	GRCh38
NC_000016.9:g.81314509C>A , CM000678.1:g.81314509C>A	GRCh37
NC_000016.8:g.79872010C>A	NCBI36
NG_012171.1:g.47214C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1149C>A MANE Select	ENSP00000258168.2:p.Ala383=
ENST00000258168.6:c.1149C>A	ENSP00000258168.2:p.Ala383=
ENST00000563804.5:c.*773C>A	ENSP00000457910.1:n.*773C>A
NM_017429.2:c.1149C>A	NP_059125.2:p.Ala383=
XM_011523109.1:c.1102-6391C>A	XP_011521411.1:n.1102-6391C>A
XM_011523110.1:c.600C>A	XP_011521412.1:p.Ala200=
XM_011523109.2:c.1102-6391C>A	XP_011521411.1:n.1102-6391C>A
XM_017023286.2:c.1149C>A	XP_016878775.1:p.Ala383=
XM_017023287.2:c.1149C>A	XP_016878776.1:p.Ala383=
XM_017023288.2:c.1149C>A	XP_016878777.1:p.Ala383=
XM_017023289.1:c.372C>A	XP_016878778.1:p.Ala124=
XR_002957813.1:n.1476C>A
NM_017429.3:c.1149C>A MANE Select	NP_059125.2:p.Ala383=