Canonical Allele Identifier: CA2634485864

Gene: BCO1

Linked Data

• gnomAD v4: 16-81280726-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280726T>A , CM000678.2:g.81280726T>A	GRCh38
NC_000016.9:g.81314331T>A , CM000678.1:g.81314331T>A	GRCh37
NC_000016.8:g.79871832T>A	NCBI36
NG_012171.1:g.47036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.1102-131T>A MANE Select	ENSP00000258168.2:n.1102-131T>A
ENST00000258168.6:c.1102-131T>A	ENSP00000258168.2:n.1102-131T>A
ENST00000563804.5:c.*726-131T>A	ENSP00000457910.1:n.*726-131T>A
NM_017429.2:c.1102-131T>A	NP_059125.2:n.1102-131T>A
XM_011523109.1:c.1102-6569T>A	XP_011521411.1:n.1102-6569T>A
XM_011523110.1:c.553-131T>A	XP_011521412.1:n.553-131T>A
XM_011523109.2:c.1102-6569T>A	XP_011521411.1:n.1102-6569T>A
XM_017023286.2:c.1102-131T>A	XP_016878775.1:n.1102-131T>A
XM_017023287.2:c.1102-131T>A	XP_016878776.1:n.1102-131T>A
XM_017023288.2:c.1102-131T>A	XP_016878777.1:n.1102-131T>A
XM_017023289.1:c.325-131T>A	XP_016878778.1:n.325-131T>A
XR_002957813.1:n.1429-131T>A
NM_017429.3:c.1102-131T>A MANE Select	NP_059125.2:n.1102-131T>A