Canonical Allele Identifier: CA2807832307

Gene: BCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280739G>T , CM000678.2:g.81280739G>T	GRCh38
NC_000016.9:g.81314344G>T , CM000678.1:g.81314344G>T	GRCh37
NC_000016.8:g.79871845G>T	NCBI36
NG_012171.1:g.47049G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1102-118G>T MANE Select	ENSP00000258168.2:n.1102-118G>T
ENST00000258168.6:c.1102-118G>T	ENSP00000258168.2:n.1102-118G>T
ENST00000563804.5:c.*726-118G>T	ENSP00000457910.1:n.*726-118G>T
NM_017429.2:c.1102-118G>T	NP_059125.2:n.1102-118G>T
XM_011523109.1:c.1102-6556G>T	XP_011521411.1:n.1102-6556G>T
XM_011523110.1:c.553-118G>T	XP_011521412.1:n.553-118G>T
XM_011523109.2:c.1102-6556G>T	XP_011521411.1:n.1102-6556G>T
XM_017023286.2:c.1102-118G>T	XP_016878775.1:n.1102-118G>T
XM_017023287.2:c.1102-118G>T	XP_016878776.1:n.1102-118G>T
XM_017023288.2:c.1102-118G>T	XP_016878777.1:n.1102-118G>T
XM_017023289.1:c.325-118G>T	XP_016878778.1:n.325-118G>T
XR_002957813.1:n.1429-118G>T
NM_017429.3:c.1102-118G>T MANE Select	NP_059125.2:n.1102-118G>T