Canonical Allele Identifier: CA284286788

Gene: BCO1

Linked Data

• dbSNP Id: rs1019663774
• gnomAD v3: 16-81280740-T-C
• gnomAD v4: 16-81280740-T-C
• MyVariant Identifiers: chr16:g.81314345T>C (hg19) ; chr16:g.81280740T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280740T>C , CM000678.2:g.81280740T>C	GRCh38
NC_000016.9:g.81314345T>C , CM000678.1:g.81314345T>C	GRCh37
NC_000016.8:g.79871846T>C	NCBI36
NG_012171.1:g.47050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.1102-117T>C MANE Select	ENSP00000258168.2:n.1102-117T>C
ENST00000258168.6:c.1102-117T>C	ENSP00000258168.2:n.1102-117T>C
ENST00000563804.5:c.*726-117T>C	ENSP00000457910.1:n.*726-117T>C
NM_017429.2:c.1102-117T>C	NP_059125.2:n.1102-117T>C
XM_011523109.1:c.1102-6555T>C	XP_011521411.1:n.1102-6555T>C
XM_011523110.1:c.553-117T>C	XP_011521412.1:n.553-117T>C
XM_011523109.2:c.1102-6555T>C	XP_011521411.1:n.1102-6555T>C
XM_017023286.2:c.1102-117T>C	XP_016878775.1:n.1102-117T>C
XM_017023287.2:c.1102-117T>C	XP_016878776.1:n.1102-117T>C
XM_017023288.2:c.1102-117T>C	XP_016878777.1:n.1102-117T>C
XM_017023289.1:c.325-117T>C	XP_016878778.1:n.325-117T>C
XR_002957813.1:n.1429-117T>C
NM_017429.3:c.1102-117T>C MANE Select	NP_059125.2:n.1102-117T>C