Canonical Allele Identifier: CA8191008

Gene: BCO1

Linked Data

• dbSNP Id: rs762688426
• ExAC: 16:81314424 C / A
• gnomAD v2: 16-81314424-C-A
• gnomAD v3: 16-81280819-C-A
• gnomAD v4: 16-81280819-C-A
• MyVariant Identifiers: chr16:g.81314424C>A (hg19) ; chr16:g.81280819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280819C>A , CM000678.2:g.81280819C>A	GRCh38
NC_000016.9:g.81314424C>A , CM000678.1:g.81314424C>A	GRCh37
NC_000016.8:g.79871925C>A	NCBI36
NG_012171.1:g.47129C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1102-38C>A MANE Select	ENSP00000258168.2:n.1102-38C>A
ENST00000258168.6:c.1102-38C>A	ENSP00000258168.2:n.1102-38C>A
ENST00000563804.5:c.*726-38C>A	ENSP00000457910.1:n.*726-38C>A
NM_017429.2:c.1102-38C>A	NP_059125.2:n.1102-38C>A
XM_011523109.1:c.1102-6476C>A	XP_011521411.1:n.1102-6476C>A
XM_011523110.1:c.553-38C>A	XP_011521412.1:n.553-38C>A
XM_011523109.2:c.1102-6476C>A	XP_011521411.1:n.1102-6476C>A
XM_017023286.2:c.1102-38C>A	XP_016878775.1:n.1102-38C>A
XM_017023287.2:c.1102-38C>A	XP_016878776.1:n.1102-38C>A
XM_017023288.2:c.1102-38C>A	XP_016878777.1:n.1102-38C>A
XM_017023289.1:c.325-38C>A	XP_016878778.1:n.325-38C>A
XR_002957813.1:n.1429-38C>A
NM_017429.3:c.1102-38C>A MANE Select	NP_059125.2:n.1102-38C>A