Canonical Allele Identifier: CA2634485947

Gene: BCO1

Linked Data

• gnomAD v4: 16-81280809-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280809C>T , CM000678.2:g.81280809C>T	GRCh38
NC_000016.9:g.81314414C>T , CM000678.1:g.81314414C>T	GRCh37
NC_000016.8:g.79871915C>T	NCBI36
NG_012171.1:g.47119C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1102-48C>T MANE Select	ENSP00000258168.2:n.1102-48C>T
ENST00000258168.6:c.1102-48C>T	ENSP00000258168.2:n.1102-48C>T
ENST00000563804.5:c.*726-48C>T	ENSP00000457910.1:n.*726-48C>T
NM_017429.2:c.1102-48C>T	NP_059125.2:n.1102-48C>T
XM_011523109.1:c.1102-6486C>T	XP_011521411.1:n.1102-6486C>T
XM_011523110.1:c.553-48C>T	XP_011521412.1:n.553-48C>T
XM_011523109.2:c.1102-6486C>T	XP_011521411.1:n.1102-6486C>T
XM_017023286.2:c.1102-48C>T	XP_016878775.1:n.1102-48C>T
XM_017023287.2:c.1102-48C>T	XP_016878776.1:n.1102-48C>T
XM_017023288.2:c.1102-48C>T	XP_016878777.1:n.1102-48C>T
XM_017023289.1:c.325-48C>T	XP_016878778.1:n.325-48C>T
XR_002957813.1:n.1429-48C>T
NM_017429.3:c.1102-48C>T MANE Select	NP_059125.2:n.1102-48C>T