Canonical Allele Identifier: CA623736103

Gene: BCO1

Linked Data

• dbSNP Id: rs1485416224
• gnomAD v2: 16-81314300-G-A
• gnomAD v3: 16-81280695-G-A
• gnomAD v4: 16-81280695-G-A
• MyVariant Identifiers: chr16:g.81314300G>A (hg19) ; chr16:g.81280695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280695G>A , CM000678.2:g.81280695G>A	GRCh38
NC_000016.9:g.81314300G>A , CM000678.1:g.81314300G>A	GRCh37
NC_000016.8:g.79871801G>A	NCBI36
NG_012171.1:g.47005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.1102-162G>A MANE Select	ENSP00000258168.2:n.1102-162G>A
ENST00000258168.6:c.1102-162G>A	ENSP00000258168.2:n.1102-162G>A
ENST00000563804.5:c.*726-162G>A	ENSP00000457910.1:n.*726-162G>A
NM_017429.2:c.1102-162G>A	NP_059125.2:n.1102-162G>A
XM_011523109.1:c.1102-6600G>A	XP_011521411.1:n.1102-6600G>A
XM_011523110.1:c.553-162G>A	XP_011521412.1:n.553-162G>A
XM_011523109.2:c.1102-6600G>A	XP_011521411.1:n.1102-6600G>A
XM_017023286.2:c.1102-162G>A	XP_016878775.1:n.1102-162G>A
XM_017023287.2:c.1102-162G>A	XP_016878776.1:n.1102-162G>A
XM_017023288.2:c.1102-162G>A	XP_016878777.1:n.1102-162G>A
XM_017023289.1:c.325-162G>A	XP_016878778.1:n.325-162G>A
XR_002957813.1:n.1429-162G>A
NM_017429.3:c.1102-162G>A MANE Select	NP_059125.2:n.1102-162G>A