Canonical Allele Identifier: CA2634485941

Gene: BCO1

Linked Data

• gnomAD v4: 16-81280802-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280802G>C , CM000678.2:g.81280802G>C	GRCh38
NC_000016.9:g.81314407G>C , CM000678.1:g.81314407G>C	GRCh37
NC_000016.8:g.79871908G>C	NCBI36
NG_012171.1:g.47112G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1102-55G>C MANE Select	ENSP00000258168.2:n.1102-55G>C
ENST00000258168.6:c.1102-55G>C	ENSP00000258168.2:n.1102-55G>C
ENST00000563804.5:c.*726-55G>C	ENSP00000457910.1:n.*726-55G>C
NM_017429.2:c.1102-55G>C	NP_059125.2:n.1102-55G>C
XM_011523109.1:c.1102-6493G>C	XP_011521411.1:n.1102-6493G>C
XM_011523110.1:c.553-55G>C	XP_011521412.1:n.553-55G>C
XM_011523109.2:c.1102-6493G>C	XP_011521411.1:n.1102-6493G>C
XM_017023286.2:c.1102-55G>C	XP_016878775.1:n.1102-55G>C
XM_017023287.2:c.1102-55G>C	XP_016878776.1:n.1102-55G>C
XM_017023288.2:c.1102-55G>C	XP_016878777.1:n.1102-55G>C
XM_017023289.1:c.325-55G>C	XP_016878778.1:n.325-55G>C
XR_002957813.1:n.1429-55G>C
NM_017429.3:c.1102-55G>C MANE Select	NP_059125.2:n.1102-55G>C