Canonical Allele Identifier: CA2236942989

Gene: BCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280891C= , CM000678.2:g.81280891C=	GRCh38
NC_000016.9:g.81314496C= , CM000678.1:g.81314496C=	GRCh37
NC_000016.8:g.79871997C=	NCBI36
NG_012171.1:g.47201C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017429.3:c.1136C= MANE Select	NP_059125.2:p.Ala379=
ENST00000258168.7:c.1136C= MANE Select	ENSP00000258168.2:p.Ala379=
NM_017429.2:c.1136C=	NP_059125.2:p.Ala379=
ENST00000258168.6:c.1136C=	ENSP00000258168.2:p.Ala379=
ENST00000563804.5:c.*760C=	ENSP00000457910.1:n.*760C=
XM_011523109.1:c.1102-6404C=	XP_011521411.1:n.1102-6404C=
XM_011523109.2:c.1102-6404C=	XP_011521411.1:n.1102-6404C=
XM_011523110.1:c.587C=	XP_011521412.1:p.Ala196=
XM_017023286.2:c.1136C=	XP_016878775.1:p.Ala379=
XM_017023287.2:c.1136C=	XP_016878776.1:p.Ala379=
XM_017023288.2:c.1136C=	XP_016878777.1:p.Ala379=
XM_017023289.1:c.359C=	XP_016878778.1:p.Ala120=
XR_002957813.1:n.1463C=